IllnessCataract, syndromal; differential diagnosis
Summary
Short information
A curated panel containing 123 genes for the comprehensive analysis of practically all known genetic and syndromic cataract entities
ID
KP0010
Number of genes
121
Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
268,1 kb (Extended panel: incl. additional genes)
268,1 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
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
ABHD12 | 1197 | NM_001042472.3 | AR | |
ADAMTS10 | 3312 | NM_030957.4 | AR | |
AGK | 1269 | NM_018238.4 | AR | |
AGPS | 1977 | NM_003659.4 | AR | |
ALDH18A1 | 2388 | NM_002860.4 | AD, AR | |
ANAPC1 | 5835 | NM_022662.4 | AR | |
ATAD3A | 1761 | NM_001170535.3 | AR | |
B3GLCT | 1497 | NM_194318.4 | AR | |
BCOR | 5166 | NM_017745.6 | XL | |
CDK9 | 1126 | NM_001261.4 | AR | |
COG4 | 2295 | NM_001195139.2 | AR | |
COL11A1 | 5421 | NM_001854.4 | AD, AR | |
COL18A1 | 4560 | NM_001379500.1 | AR | |
COL2A1 | 4464 | NM_001844.5 | AD | |
COL4A1 | 5010 | NM_001845.6 | AD, Mult | |
COL4A5 | 5058 | NM_000495.5 | XL | |
COPB1 | 2883 | NM_001144061.2 | AR | |
CRYAA | 522 | NM_000394.4 | AD, AR | |
CRYAB | 528 | NM_001885.3 | AD, AR | |
CRYBA4 | 591 | NM_001886.3 | AD | |
CRYBB1 | 759 | NM_001887.4 | AD, AR | |
CRYBB2 | 618 | NM_000496.3 | AD | |
CRYBB3 | 636 | NM_004076.5 | AD, AR | |
CRYGC | 525 | NM_020989.4 | AD | |
CTDP1 | 2529 | NM_004715.5 | AR | |
CYP27A1 | 1596 | NM_000784.4 | AR | |
CYP51A1 | 1540 | NM_000786.4 | XL | |
DHCR7 | 1428 | NM_001360.3 | AR | |
DMPK | 1920 | NM_001081563.2 | AD | |
DNMBP | 6032 | NM_015221.4 | AD | |
DYRK1A | 2292 | NM_001396.5 | AD | |
EED | 2100 | NM_003797.5 | AD | |
EIF2B2 | 1056 | NM_014239.4 | AR | |
EPG5 | 7740 | NM_020964.3 | AR | |
EPHA2 | 2931 | NM_004431.5 | AD | |
ERCC2 | 2283 | NM_000400.4 | AR | |
ERCC3 | 2349 | NM_000122.2 | AR | |
ERCC6 | 4482 | NM_000124.4 | AR | |
ERCC8 | 1191 | NM_000082.4 | AR | |
EYA1 | 1779 | NM_000503.6 | AD | |
FAR1 | 1548 | NM_032228.6 | AR, AD | |
FBN1 | 8616 | NM_000138.5 | AD | |
FOXC1 | 1662 | NM_001453.3 | AD | |
FOXE3 | 960 | NM_012186.3 | AD, AR | |
FTL | 528 | NM_000146.4 | AD | |
GALK1 | 1179 | NM_000154.2 | AR | |
GALM | 1069 | NM_138801.3 | AR | |
GALT | 1140 | NM_000155.4 | AR | |
GCNT2 | 1203 | NM_001491.3 | n.k. | |
GEMIN4 | 3177 | NM_015721.3 | AR | |
GFER | 618 | NM_005262.3 | AR | |
GLS | 1797 | NM_001256310.2 | AD | |
GNPAT | 2043 | NM_014236.4 | AR | |
GTF2H5 | 216 | NM_207118.3 | AR | |
HMX1 | 1047 | NM_018942.3 | AR | |
HTRA2 | 1377 | NM_013247.5 | AR | |
HYCC1 | 1566 | NM_032581.4 | AR | |
INPP5K | 1119 | NM_016532.4 | AR | |
INTS1 | 6843 | NM_001080453.3 | AR | |
JAM3 | 780 | NM_001205329.2 | AR | |
LCAT | 1323 | NM_000229.2 | AR | |
LIM2 | 648 | NM_030657.4 | AR | |
LONP1 | 2688 | NM_001276479.2 | AR | |
LSS | 2303 | NM_001001438.3 | AR | |
MAF | 1212 | NM_005360.5 | AD | |
MAN2B1 | 3036 | NM_000528.4 | AR | |
MED27 | 1160 | NM_001253881.2 | AR | |
MSMO1 | 489 | NM_001017369.3 | AR | |
MYH9 | 5883 | NM_002473.6 | AD | |
NACC1 | 1589 | NM_052876.4 | AD | |
NDP | 402 | NM_000266.4 | XLR | |
NF2 | 1788 | NM_000268.4 | AD | |
NHS | 4425 | NM_001136024.4 | XL | |
NUP188 | 5294 | NM_015354.3 | AD | |
OCRL | 2706 | NM_000276.4 | XLR | |
OPA3 | 540 | NM_025136.4 | AD | |
P3H2 | 1584 | NM_001134418.2 | AR | |
PAX6 | 1269 | NM_000280.5 | AD | |
PEX1 | 3852 | NM_000466.3 | AR | |
PEX10 | 1041 | NM_153818.2 | AR | |
PEX11B | 780 | NM_003846.3 | AR | |
PEX12 | 1080 | NM_000286.3 | AR | |
PEX13 | 1212 | NM_002618.4 | AR | |
PEX14 | 1134 | NM_004565.3 | AR | |
PEX16 | 1011 | NM_004813.4 | AR | |
PEX19 | 900 | NM_002857.4 | AR | |
PEX2 | 918 | NM_000318.3 | AR | |
PEX26 | 918 | NM_017929.6 | AR | |
PEX3 | 1122 | NM_003630.3 | AR | |
PEX5 | 1920 | NM_001131025.2 | AR | |
PEX6 | 2943 | NM_000287.4 | AR | |
PEX7 | 972 | NM_000288.4 | AR | |
PGRMC1 | 588 | NM_006667.5 | AD | |
PIK3C2A | 5093 | NM_002645.4 | AR | |
PITX3 | 909 | NM_005029.4 | AD | |
PLOD3 | 2217 | NM_001084.5 | AR | |
POLG | 3720 | NM_002693.3 | AD, AR | |
POMT1 | 2244 | NM_007171.4 | AR | |
PSMC3 | 1501 | NM_002804.5 | AD | |
PXDN | 4440 | NM_012293.3 | AR | |
RAB18 | 621 | NM_021252.5 | AR | |
RAB3GAP1 | 2946 | NM_012233.3 | AR | |
RAB3GAP2 | 4182 | NM_012414.4 | AR | |
RECQL4 | 3628 | NM_004260.4 | AR | |
RIC1 | 3498 | NM_001135920.4 | AD | |
SEC23A | 2298 | NM_006364.4 | AR | |
SIL1 | 1386 | NM_022464.5 | AR | |
SLC16A12 | 1551 | NM_213606.4 | AD | |
SLC2A1 | 1479 |
| NM_006516.4 | AD |
SLC33A1 | 1650 | NM_004733.4 | AR | |
SMG8 | 2988 | NM_018149.7 | AR | |
SRD5A3 | 957 | NM_024592.5 | AR | |
SREBF1 | 3534 | NM_001005291.3 | AD, AR | |
TBC1D20 | 1212 | NM_144628.4 | AR | |
TKFC | 2102 | NM_015533.4 | AR | |
VPS4A | 1325 | NM_013245.3 | AD | |
VSX2 | 1086 | NM_182894.3 | AR | |
WFS1 | 2673 | NM_006005.3 | AD, AR | |
WRN | 4299 | NM_000553.6 | AR | |
XYLT2 | 2598 | NM_022167.4 | AR | |
ZNF526 | 2013 | NM_133444.3 | AR |
Informations about the disease
Clinical Comment
Heterogenous disorders
Synonyms
- Alias: Cataract, syndromal
- Allelic: Adult i phenotype without cataract (GCNT2)
- Allelic: Blood group, Ii (GCNT2)
- Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
- Allelic: Cataract 38, AR (AGK)
- Allelic: Deafness, autosomal dominant 37 (COL11A1)
- Allelic: Dent disease 2 (OCRL)
- Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
- Allelic: Fibrochondrogenesis 1 (COL11A1)
- Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
- Allelic: Myopathy, myofibrillar, 2 (CRYAB)
- Allelic: Premature ovarian insufficiency [panelapp] (PGRMC1)
- Allelic: Spastic paraplegia 9A, AD (ALDH18A1)
- Allelic: Spastic paraplegia 9B, AR (ALDH18A1)
- Allelic: Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
- Allelic: Stickler syndrome, type II (COL11A1)
- Allelic: Trichothiodystrophy 1, photosensitive (ERCC2)
- Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
- Allelic: Xeroderma pigmentosum, group D (ERCC2)
- Lysyl hydroxylase 3 deficiency (PLOD3)
- 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLPB)
- 3-methylglutaconic aciduria, type VIII (HTRA2)
- AR cataract due to abnormal sterol metabolism [panelapp] (CYP51A1)
- Acromicric dysplasia (FBN1)
- Allelic: Pontocereb. hypoplasia, hypotonia, respiratory insufficiency s., neonatal lethal (ATAD3)
- Alopecia-mental retardation syndrome 4 (LSS)
- Alport syndrome 1, XL (COL4A5)
- Alport syndrome 1, XL (COL4A5)
- Alzahrani-Kuwahara syndrome: global developmental delay ID, poor/absent speech (SMG8)
- Anterior segment anomalies with/-out cataract (EYA1)
- Anterior segment dysgenesis 1, multiple subtypes (PITX)
- Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
- Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
- Anterior segment dysgenesis 5, multiple subtypes (PAX6)
- Anterior segment dysgenesis 7, with sclerocornea (PXDN)
- Axenfeld-Rieger syndrome, type 3 (FOXC1)
- Ayme-Gripp syndrome (MAF)
- Baralle-Macken syndrome: neurodevelopmental disorder, cataracts, var. microcephaly (COPB1)
- Brain small vessel disease with/-out ocular anomalies (COL4A1)
- Branchiooculofacial syndrome (TFAP2A)
- Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
- CATIFA syndrome: cleft lip, cataract, tooth abnormality, ID, face dysmorph, ADHS (RIC1)
- CIMDAG syndr.: cereb. hypoplasia, cataract, ID, microceph., dystonia, anemia, red. growth (VPS4A)
- CODAS [cerebral, ocular, dental, auricular + skeletal anomalies] syndrome (LONP1)
- Cataract 1, multiple types (GJA8)
- Cataract 11, multiple types (PITX)
- Cataract 11, syndromic, AR (PITX)
- Cataract 13 with adult i phenotype (GCNT2)
- Cataract 14, multiple types (GJA3)
- Cataract 15, multiple types (MIP)
- Cataract 16, multiple types (CRYAB)
- Cataract 17, multiple types (CRYBB1)
- Cataract 19 (LIM2)
- Cataract 2, multiple types (CRYGC)
- Cataract 21, multiple types (MAF)
- Cataract 22 (CRYBB3)
- Cataract 23 (CRYBA4)
- Cataract 3, multiple types (CRYBB2)
- Cataract 34, multiple types (FOXE3)
- Cataract 40, X-linked (NHS)
- Cataract 41 (WFS1)
- Cataract 44 (LSS)
- Cataract 47, juvenile, with microcornea (SLC16A12)
- Cataract 48 (DNMBP1)
- Cataract 6, multiple types (EPHA2)
- Cataract 9, multiple types (CRYAA)
- Cataract with late-onset corneal dystrophy (PAX6)
- Cerebrooculofacioskeletal syndrome 2 (ERCC2)
- Cerebrotendinous xanthomatosis (CYP27A1)
- Cohen-Gibson syndrome (EED)
- Congenital cataracts, facial dysmorphism, neuropathy (CTDP1)
- Congenital cataracts, hearing loss + neurodegeneration (SLC33A1)
- Congenital disorder of glycosylation, type IIj (COG4)
- Craniolenticulosutural dysplasia (SEC23A)
- Cutis laxa, AD (ALDH18A1)
- Cutis laxa, AR, type IIIA (ALDH18A1)
- Dentici-Novelli neurodevelopmental syndrome (ZNF526)
- Developmental + epileptic encephalopathy 71 (GLS
- Dystonia 9 (SLC2A1)
- Ectopia lentis, familial (FBN1)
- Exudative vitreoretinopathy 2, XL (NDP)
- Fish-eye disease (LCAT)
- GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
- GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
- Galactokinase deficiency with cataracts (GALK1)
- Galactosemia (GALT)
- Galactosemia IV (GALM)
- Geleophysic dysplasia 2 (FBN1)
- Glaucoma, primary closed-angle (COL18A1)
- Global developmental delay, progressive ataxia + elevated glutamine (GLS)
- Harel-Yoon syndrome (ATAD3)
- Hemorrhagic destruction of the brain, subependymal calcification, and cataracts (JAM3)
- Hyperferritinemia-cataract syndrome (FTL)
- Hypotrichosis 14 (LSS)
- ID, cataract; iris, ear, heart, skeletal + choanal morph., AKUT, seizures [panelapp] (CDK9)
- Ichthyosis, follicular, with atrichia + photophobia syndrome 2 (SREBF1)
- Infantile cataract, skin abnormalities, glutamate excess, impaired intellectual development (GLS)
- Intellectual developmental disorder, AD 7 (DYRK1A)
- Isolated paediatric cataract; Cataract [MONDO:0005129] [panelapp] (PGRMC1)
- Kahrizi syndrome: mental retardation, cataracts, coloboma, kyphosis, coarse face (SRD5A3)
- Knobloch syndrome, type 1 (COL18A1)
- Lathosterolosis (SC5D)
- Leukodystrophy, hypomyelinating, 5 (FAM126A)
- Leukoencephalopathy with vanishing white matter (EIF2B2)
- Lowe syndrome (OCRL)
- MASS syndrome (FBN1)
- Macrothrombocytopenia, granulocyte inclusions with/-out nephritis, sensorineural hearing loss (MYH9)
- Mannosidosis, alpha-, types I, II (MAN2B1)
- Marfan lipodystrophy syndrome (FBN1)
- Marfan syndrome (FBN1)
- Marinesco-Sjogren syndrome (SIL1)
- Marshall syndrome (COL11A1)
- Martsolf syndrome (RAB3GAP2)
- Microcephaly, congenital cataract, psoriasiform dermatitis (MSMO1)
- Microphthalmia with coloboma 3 (VSX2)
- Microphthalmia, syndromic 2 (BCOR)
- Mitochondrial DNA depletion syndrome 4B, Alpers + MNGIE types (POLG)
- Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
- Mucoepithelial dysplasia, hereditary (SREBF1)
- Muscular dystrophy, congenital, cataracts + intellectual disability (INPP5K)
- Muscular dystrophy-dystroglycanopathy, cong. with ID, type B, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 1 (POMT1)
- Myopathy, mitochondrial progressive, congenital cataract, developmental delay (GFER)
- Myopia, high, cataract + vitreoretinal degeneration (P3H2)
- Myotonic dystrophy 1 (DMPK)
- Nance-Horan syndrome: cong. cataract, dental anomalies, dysmorphic features, in some cases ID (NHS)
- Neurodevelopmental disorder with cataracts, poor growth, dysmorphic facies (INTS1)
- Neurodevelopmental disorder with microcephaly, cataracts + renal abnormalities (GEMIN4)
- Neurodevelopmental disorder with spasticity, cataracts, cerebellar hypoplasia (MED27)
- Neurodevelopmental disorder, epilepsy, cataracts, feeding diff., delayed brain myelin. (NACC1)
- Neurofibromatosis, type 2 (NF2)
- Norrie disease (NDP)
- Norum disease (LCAT)
- Oculoauricular syndrome (HMX1)
- Oculoskeletodental syndrome (PIK3C2A)
- Optic atrophy 3 with cataract (OPA3)
- Ovarioleukodystrophy (EIF2B2)
- Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
- Peroxisome biogenesis disorders (PEX...)
- Peters-plus syndrome (B3GLCT)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (ABHD12)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (ADAMTS10)
- Progressive external ophthalmoplegia, AD 1 (POLG)
- Progressive external ophthalmoplegia, AR 1 (POLG)
- Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
- Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
- Rothmund-Thomson syndrome, type 1 (ANAPC1)
- Rothmund-Thomson syndrome, type 2 (RECQL4)
- Sandestig-Stefanova s.: micro-, trigonoceph., cataract, microphth., face, camptodactyly... (NUP188)
- Saul-Wilson syndrome (COG4)
- Sengers syndrome (AGK)
- Smith-Lemli-Opitz syndrome (DHCR7)
- Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
- Spondyloocular syndrome (XYLT2)
- Stickler syndrome, type I (COL2A1)
- Stiff skin syndrome (FBN1)
- Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
- Trichothiodystrophy 3, photosensitive (GTF2H5)
- Triokinase + FMN cyclase deficiency syndrome (TKFC)
- Vici syndrome (EPG5)
- Warburg micro syndrome 1 (RAB3GAP1)
- Warburg micro syndrome 2 (RAB3GAP2)
- Warburg micro syndrome 3 (RAB18)
- Warburg micro syndrome 4 (TBC1D20)
- Weill-Marchesani syndrome 2, AD (FBN1)
- Weill-Marchesani syndrome 2, dominant (FBN1)
- Werner syndrome (WRN)
Heredity, heredity patterns etc.
- AD
- AR
- Mult
- XL
- XLR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined