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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessRetinitis pigmentosa/retina disorders, autosomal recessive; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Retinitis pigmentosa/retinal disease, autosomal recessive, comprising 5 core candidate genes and altogether >200 curated genes according to the clinical signs

ID
RP0872
Number of genes
125 Accredited laboratory test
Examined sequence length
27,1 kb (Core-/Core-canditate-Genes)
362,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[[[Sanger]]]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CRB14221NM_201253.3AR
EYS9435NM_001142800.2AR
IMPG23726NM_016247.4AR
RP16471NM_006269.2AR, AD
RPE651602NM_000329.3AD, AR
TULP11629NM_003322.6AR
ABCA46822NM_000350.3AR
ABHD121197NM_001042472.3AR
ACO22343NM_001098.3AR, AD
ADAM92460NM_003816.3AR
ADGRV118921NM_032119.4AR, digenisch
AGBL52740NM_001035507.3AR
AHI13591NM_017651.5AR
AIPL11155NM_014336.5AD, AR
AIRE1638NM_000383.4AD, AR
ALDH3A21458NM_000382.3AR
ALMS112504NM_015120.4AR
ARHGEF183598
  • No OMIM-Gs linked
NM_001130955.2AR
ARL2BP492NM_012106.4AR
ARL6561NM_177976.3AR
BBS11782NM_024649.5AR, digenisch
BBS102172NM_024685.4AR
BBS122133NM_152618.3AR
BBS22166NM_031885.5AR
BBS41560NM_033028.5AR
BBS51026NM_152384.3AR
BBS72148NM_176824.3AR
BBS92664NM_198428.3AR
BEST11758NM_004183.4AD, AR
C2orf713869
  • No OMIM-Gs linked
NM_004928.3AR
CABP4828NM_145200.5AR
CACNA2D43414NM_172364.5AR
CC2D2A4863NM_001080522.2AR
CDH2310065NM_022124.6AR, digenisch
CDHR12580NM_033100.4AR
CEP1644383NM_014956.5AR
CEP2907440NM_025114.4AR
CEP782216NM_001098802.3AR
CERKL1677NM_001030311.3AR
CFAP4101507NM_004928.3AR
CFAP418624NM_177965.4AR
CIB2564NM_006383.4AR
CLRN1699NM_174878.3AR
CNGA12073NM_000087.5AR, AD
CNGB1900NM_001135639.2AR
CNNM42328NM_020184.4AR
CSPP13666NM_024790.6AR
CWC271883NM_005869.4AR
CYP4V21578NM_207352.4AR
DHDDS900NM_001243564.2AR
FAM161A2151NM_001201543.2AR
FLVCR11668NM_014053.4AR
GUCY2D3312NM_000180.4AR, AD
HARS11530NM_002109.6AR
HGSNAT1908NM_152419.3AR
HMX11047NM_018942.3AR
IDH3A1248
  • No OMIM-Gs linked
NM_005530.3AR
IDH3B1158NM_006899.5AR
IFT1404389NM_014714.4AR
INPP5E1945NM_019892.6AR
IQCB11797NM_001023570.4AR
KCNV21638NM_133497.4AR
KIAA15495853NM_001164665.2AD, AR
KIZ1712NM_001163022.3AR
KLHL71761NM_001031710.3AD, AR
LRAT693NM_004744.5AR
LRP213968NM_004525.3AR
LZTFL1900NM_020347.4AR
MAK1752NM_001242385.2AR
MERTK3000NM_006343.3AR
MKKS1713NM_018848.3AR
MKS11680NM_017777.4AR
MYO7A6648NM_000260.4AR
NEUROD11071NM_002500.5AR
NPHP12202NM_000272.5AR
NPHP33993NM_153240.5AR
NPHP44281NM_015102.5AR
NR2E31234NM_014249.4AD, AR
NRL714NM_006177.5AD, AR
OAT1320NM_000274.4AR
PANK21713NM_153638.4AR
PCDH155868NM_033056.4AR, digenisch
PCYT1A1104NM_005017.4AR
PDE6A2583NM_000440.3AR
PDE6B2565NM_000283.4AD, AR
PDE6C2577NM_006204.4AR
PDE6G264NM_002602.4AR
PEX13852NM_000466.3AR, digenisch
PEX2918NM_000318.3AR
PEX7972NM_000288.4AR, digenisch
PHYH1017NM_006214.4AR
PNPLA63984NM_006702.5AR
POC1B1437NM_172240.3AR
PRCD165NM_001077620.3AR
PROM12598NM_006017.3AD, AR
PRPH21041NM_000322.5AD, AR, digenisch
RAB28663NM_004249.4AR
RBP33744NM_002900.3AR
RBP4606NM_006744.4AR
RCBTB11596NM_018191.4AR
REEP6560NM_138393.4AR
RHO1047NM_000539.3AR
RLBP1954NM_000326.5AR
RPGRIP13861NM_020366.4AR
RPGRIP1L3948NM_015272.5AR
SAG1218NM_000541.5AR
SCAPER4203NM_020843.4AR
SDCCAG82142NM_006642.5AR
SPATA71704NM_001040428.4AR
SRD5A3957NM_024592.5AR
STN11221NM_024928.5AR
TMEM2371227NM_001044385.3AR
TTC81518NM_198309.3AR
TTLL53846NM_015072.5AR
TUB1686NM_003320.5AR
USH1C1659NM_005709.4AR
USH1G1386NM_173477.5AR
USH2A15609NM_206933.4AR
VPS13B12069NM_017890.5AR
WDPCP2241NM_015910.7AR
WDR194029NM_025132.4AR
WHRN2724NM_015404.4AR
ZFYVE267620NM_015346.4AR
ZNF4082163NM_024741.3AR
ZNF4233675NM_015069.5AR, AD

Informations about the disease

Clinical Comment

Retinitis Pigmentosa (RP) is the most common form of hereditary retinal dystrophy characterised by photoreceptor degeneration. RP manifests with initial night blindness and tunnel vision, followed by secondary loss of cone photoreceptors, leading to reduced visual acuity and macular degeneration. The onset and progression of RP and the severity of symptoms can vary significantly between patients, even within the same family. Nearly 100 different autosomal dominant inherited forms of RP are known. In up to >80% of autosomal dominantly inherited RP, the genetic predisposition can be identified (depending on population and clinical preselection). There is sometimes incomplete penetrance and varying clinical expression. An inconspicuous genetic finding does not mean that the suspected clinical diagnosis is excluded. Autosomal recessively inherited RP is identified in more than half of all patients. Nearly 100 different autosomal recessive inherited forms of RP are currently known. In up to >80% of the recessively inherited RP forms (depending on the population and clinical preselection) the genetic predisposition can be identified. There are often different clinical manifestations. An inconspicuous genetic finding does not mean that the suspected clinical diagnosis is excluded.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1417/

 

Synonyms
  • Alias: Retinopathia pigmentosa
  • Allelic: Achromatopsia-4 (GNAT2)
  • Allelic: Bestrophinopathy, AR (BEST1)
  • Allelic: Bile acid synthesis defect, congenital, 4 (AMACR)
  • Allelic: Boucher-Neuhauser syndrome (PNPLA6)
  • Allelic: Bradyopsia (RGS9)
  • Allelic: Ceroid lipofuscinosis, neuronal, 6B, Kufs type (CLN6)
  • Allelic: Eye Disorders [panelapp] (RDH12)
  • Allelic: Heimler syndrome 2 (PEX6)
  • Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
  • Allelic: Hyper-IgD syndrome (MVK)
  • Allelic: Laurence-Moon syndrome (PNPLA6)
  • Allelic: Leber congenital amaurosis 13 (RDH12)
  • Allelic: Leber congenital amaurosis 15 (TULP1)
  • Allelic: Leber congenital amaurosis 17 (GDF6)
  • Allelic: Leber congenital amaurosis 8 (CRB1)
  • Allelic: Macular Dystrophy/Degeneration/Stargardt Disease [panelapp] (RDH12)
  • Allelic: Macular dystrophy, vitelliform, 2 (BEST1)
  • Allelic: Maturity-onset diabetes of the young (NEUROD1)
  • Allelic: Meckel syndrome 2 (TMEM216)
  • Allelic: Microcephalic osteodysplastic primordial dwarfism, type I (SEMA4A)
  • Allelic: Microcornea, myopic chorioretinal atrophy + telecanthus (ADAMTS18)
  • Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
  • Allelic: Microphthalmia, isolated 4 (GDF6)
  • Allelic: Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy, congenital with mental retard., type B, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 1 POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 3 (POMGNT1)
  • Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
  • Allelic: Neuropathy, hereditary motor and sensory, Russe type (HK1)
  • Allelic: PERCHING syndrome (KLHL7)
  • Allelic: Porokeratosis 3, multiple types (MVK)
  • Allelic: Retinitis pigmentosa 83 (ARL3)
  • Allelic: Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
  • Allelic: Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
  • Allelic: Spastic paraplegia 39, AR (PNPLA6)
  • Allelic: Spastic paraplegia 55, (MTRFR)
  • Allelic: Spinocerebellar ataxia, AR 7 (TPP1)
  • Allelic: Type 2 diabetes mellitus, susceptibility to (NEUROD1)
  • Abetalipoproteinemia (MTTP)
  • Achromatopsia 6 (PDE6H)
  • Achromatopsia, Cone + cone-rod dystrophy [panelapp] (RGS9)
  • Achromatopsia, cone + cone-rod dystrophy [panelapp] (GNAT2)
  • Alpha-methylacyl-CoA racemase deficiency (AMACR)
  • Alstrom syndrome (ALMS1)
  • Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
  • Bardet-Biedl syndrome 11 (TRIM32)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 14 (CEP290)
  • Bardet-Biedl syndrome 15 (WDPCP)
  • Bardet-Biedl syndrome 16 (SDCCAG8)
  • Bardet-Biedl syndrome 17 (LZTFL1)
  • Bardet-Biedl syndrome 19 (IFT27)
  • Bardet-Biedl syndrome 20 (IFT172)
  • Bardet-Biedl syndrome 20 (IFT74)
  • Bardet-Biedl syndrome 21 (CFAP418 syn. C8orf37)
  • Bardet-Biedl syndrome 3 (ARL6)
  • Bardet-Biedl syndrome 6 (MKKS)
  • Bardet-Biedl syndrome 8 (TTC8)
  • Bardet-Biedl syndromes 1, 2, 4, 5, 7, 9, 10, 12 (BBS1-BBS12)
  • Bietti crystalline corneoretinal dystrophy (CYP4V2)
  • Bothnia retinal dystrophy (RLBP1)
  • Ceroid lipofuscinosis, neuronal, 1 (PPT1)
  • Ceroid lipofuscinosis, neuronal, 10 (CTSD)
  • Ceroid lipofuscinosis, neuronal, 11, (GRN)
  • Ceroid lipofuscinosis, neuronal, 2 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 3 (CLN3)
  • Ceroid lipofuscinosis, neuronal, 6A (CLN6)
  • Ceroid lipofuscinosis, neuronal, 6A (CLN6)
  • Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
  • Ceroid lipofuscinosis, neuronal, 8 (CLN8)
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • Cohen syndrome (VPS13B)
  • Combined oxidative phosphorylation deficiency 7 (MTRFR)
  • Cone dystrophy 4 (PDE6C)
  • Cone-rod dystrophy (AIPL1)
  • Cone-rod dystrophy + hearing loss (CEP78)
  • Cone-rod dystrophy + hearing loss 2 (CEP250)
  • Cone-rod dystrophy 12 (PROM1)
  • Cone-rod dystrophy 13 (RPGRIP1)
  • Cone-rod dystrophy 15 (CDHR1)
  • Cone-rod dystrophy 16 (CFAP418 syn. C8orf37)
  • Cone-rod dystrophy 18 (RAB28)
  • Cone-rod dystrophy 19 (TTLL5)
  • Cone-rod dystrophy 20 (POC1B)
  • Cone-rod dystrophy 21 (DRAM2)
  • Cone-rod dystrophy 22 (TLCD3B syn. FAM57B)
  • Cone-rod dystrophy 6 (GUCY2D)
  • Cone-rod dystrophy 9 (ADAM9)
  • Cone-rod dystrophy [MONDO:0015993] (TLCD3B syn. FAM57B)
  • Cone-rod synaptic disorder, congenital nonprogressive (CABP4)
  • Donnai-Barrow syndrome (LRP2)
  • Genetic retinal degeneration conditions [panelapp] (ADAMTS18)
  • Gyrate atrophy of choroid + retina with/-out ornithinemia (OAT)
  • HARP syndrome (PANK2)
  • Hypotaurinemic retinal degeneration + cardiomyopathy (SLC6A6)
  • Infantile cerebellar-retinal degeneration (ACO2)
  • Intellectual developmental disorder + retinitis pigmentosa (SCAPER)
  • Jalili syndrome (CNNM4)
  • Joubert syndrome 1 (INPP5E)
  • Joubert syndrome 14 (TMEM237)
  • Joubert syndrome 19 (ZNF423)
  • Joubert syndrome 2 (TMEM216)
  • Joubert syndrome 20 (TMEM231)
  • Joubert syndrome 21 (CSPP1)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 3 (AHI1)
  • Joubert syndrome 35 (ARL3)
  • Joubert syndrome 39 (TMEM218)
  • Joubert syndrome 4 (NPHP1)
  • Joubert syndrome 5 (CEP290)
  • Joubert syndrome 7 (RPGRIP1L)
  • Joubert syndrome 9 (CC2D2A)
  • Lowry-Wood syndrome (SEMA4A)
  • Macular dystrophy with central cone involvement (MFSD8)
  • McKusick-Kaufman syndrome (MKKS)
  • Meckel syndrome 11 (TMEM231)
  • Mental retardation, truncal obesity, retinal dystrophy + micropenis (INPP5E)
  • Methylmalonic aciduria + homocystinuria, cblC type (MMACHC)
  • Methylmalonic aciduria + homocystinuria, cblC type, digenic (MMACHC)
  • Mevalonic aciduria (MVK)
  • Mitochondrial DNA depletion syndrome 20, MNGIE type (LIG3)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 1 (POMT1)
  • Nephronophthisis 1, juvenile (NPHP1)
  • Nephronophthisis 13 (WDR19)
  • Nephronophthisis 14 (ZNF423)
  • Nephronophthisis 15 (CEP164)
  • Nephronophthisis 3 (NPHP3)
  • Nephronophthisis 4 (NPHP4)
  • Neuronal ceroid lipofuscinosis 1 [MONDO:0013866] (GRN)
  • Newfoundland rod-cone dystrophy (RLBP1)
  • Oculoauricular syndrome (HMX1)
  • Oliver-McFarlane syndrome (PNPLA6)
  • Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
  • Peroxisome biogenesis disorder 4A (Zellweger (PEX6)
  • Peroxisome biogenesis disorder 4B (PEX6)
  • Peroxisome biogenesis disorder 5A [Zellweger] (PEX2)
  • Peroxisome biogenesis disorder 9B (PEX7)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa + cataract (ABHD12)
  • Refsum disease (PHYH)
  • Retinal cone dystrophy 3 (PDE6H)
  • Retinal cone dystrophy 3B (KCNV2)
  • Retinal cone dystrophy 4 (CACNA2D4)
  • Retinal degeneration, AR, clumped pigment type (NRL)
  • Retinal disorders [panelapp "eye disorders"] (CLN6)
  • Retinal disorders [panelapp "eye disorders"] (CLN8)
  • Retinal dystrophy + obesity (TUB)
  • Retinal dystrophy with macular staphyloma (C21orf2)
  • Retinal dystrophy with/-out extraocular anomalies (RCBTB1)
  • Retinal dystrophy, early-onset severe (LRAT)
  • Retinal dystrophy, iris coloboma + comedogenic acne syndrome (RBP4)
  • Retinal dystrophy, juvenile cataracts + short stature syndrome (RDH11)
  • Retinitis Pigmentosa, AR [panelapp] (RDH12)
  • Retinitis pigmentosa + erythrocytic microcytosis (TRNT1)
  • Retinitis pigmentosa 1 (RPI)
  • Retinitis pigmentosa 11 (PRPF31)
  • Retinitis pigmentosa 12 (CRB1)
  • Retinitis pigmentosa 14 (TULP1)
  • Retinitis pigmentosa 19 (ABCA4)
  • Retinitis pigmentosa 20 (RPE65)
  • Retinitis pigmentosa 25 (EYS)
  • Retinitis pigmentosa 26 (CERKL)
  • Retinitis pigmentosa 27 (NRL)
  • Retinitis pigmentosa 28 (FAM161A)
  • Retinitis pigmentosa 36 (PRCD)
  • Retinitis pigmentosa 37 (NR2E3)
  • Retinitis pigmentosa 38 (MERTK)
  • Retinitis pigmentosa 4, AD/AR (RHO)
  • Retinitis pigmentosa 40 (PDE6B)
  • Retinitis pigmentosa 41 (PROM1)
  • Retinitis pigmentosa 42 (KLHL7)
  • Retinitis pigmentosa 43 (PDE6A)
  • Retinitis pigmentosa 45 (CNGB1)
  • Retinitis pigmentosa 46 (IDH3B)
  • Retinitis pigmentosa 47 (SAG)
  • Retinitis pigmentosa 49 (CNGA1)
  • Retinitis pigmentosa 50 (BEST1)
  • Retinitis pigmentosa 51 (TTC8)
  • Retinitis pigmentosa 55 (ARL6)
  • Retinitis pigmentosa 56 (IMPG2)
  • Retinitis pigmentosa 57 (PDE6G)
  • Retinitis pigmentosa 58 (ZNF513)
  • Retinitis pigmentosa 59 (DHDDS)
  • Retinitis pigmentosa 61 (CLRN1)
  • Retinitis pigmentosa 62 (MAK)
  • Retinitis pigmentosa 64 (CFAP418 syn. C8orf37)
  • Retinitis pigmentosa 65 (CDHR1)
  • Retinitis pigmentosa 66 (RBP3)
  • Retinitis pigmentosa 67 (NEK2)
  • Retinitis pigmentosa 68 (SLC7A14)
  • Retinitis pigmentosa 69 (KIZ)
  • Retinitis pigmentosa 7 + digenic form (PRPH2)
  • Retinitis pigmentosa 71 (IFT172)
  • Retinitis pigmentosa 72 (ZNF408)
  • Retinitis pigmentosa 73 (HGSNAT)
  • Retinitis pigmentosa 75 (AGBL5)
  • Retinitis pigmentosa 76 (POMGNT1)
  • Retinitis pigmentosa 77 (REEP6)
  • Retinitis pigmentosa 78 (ARHGEF18)
  • Retinitis pigmentosa 79 (HK1)
  • Retinitis pigmentosa 80 (IFT140)
  • Retinitis pigmentosa 84 (DHX38)
  • Retinitis pigmentosa 85 (AHR)
  • Retinitis pigmentosa 86 (KIAA1549)
  • Retinitis pigmentosa 87 with choroidal involvement (RPE65)
  • Retinitis pigmentosa 90 (IDH3A)
  • Retinitis pigmentosa ["eye disoders" panelapp] (CTSD)
  • Retinitis pigmentosa [panelapp] (CLN3)
  • Retinitis pigmentosa [panelapp] (NEUROD1)
  • Retinitis pigmentosa [panelapp] (RDH12)
  • Retinitis pigmentosa [panelapp] (SLC37A3)
  • Retinitis pigmentosa with/-out situs inversus (ARL2BP)
  • Retinitis pigmentosa with/-out skeletal anomalies
  • Retinitis pigmentosa, concentric (BEST1)
  • Retinitis pigmentosa, juvenile (AIPL1, LRAT)
  • Retinitis pigmentosa, juvenile, AR (SPATA7)
  • Retinitis punctata albescens (PRPH2, RHO, RLBP1)
  • Retinopathy [panelapp] (NEUROD1)
  • Rickets due to defect in vitamin D 25-hydroxylation deficiency (CYP2R1)
  • Roifman syndrome (SEMA4A)
  • Senior-Loken syndrome 1 (NPHP1)
  • Senior-Loken syndrome 4 (NPHP4)
  • Senior-Loken syndrome 5 (IQCB1)
  • Senior-Loken syndrome 6 (CEP290)
  • Senior-Loken syndrome 7 (SDCCAG8)
  • Senior-Loken syndrome 8 (WDR19)
  • Senior-Loken syndrome 9 (TRAF3IP1)
  • Short-rib thoracic dysplasia 19 with/-out polydactyly (IFT81)
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, developm. delay (TRNT1)
  • Spastic paraplegia 15, AR [+retinal degeneration] (ZFYVE26)
  • Spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A)
  • Usher syndrome, type 1B (MYO7A)
  • Usher syndrome, type 1C (USH1C)
  • Usher syndrome, type 1D (CDH23)
  • Usher syndrome, type 1D/F digenic (CDH23)
  • Usher syndrome, type 1D/F digenic (PCDH15)
  • Usher syndrome, type 1F (PCDH15)
  • Usher syndrome, type 1G (USH1G)
  • Usher syndrome, type 1J (CIB2)
  • Usher syndrome, type 2A (USH2A)
  • Usher syndrome, type 2C (ADGRV1)
  • Usher syndrome, type 2C, GPR98/PDZD7 digenic (ADGRV1)
  • Usher syndrome, type 2D (WHRN)
  • Usher syndrome, type 3A (CLRN1)
  • Usher syndrome, type 3B (HARS)
  • Usher syndrome, type IV (ARSG)
Heredity, heredity patterns etc.
  • AD
  • AR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined