IllnessCataract [primarily isolated], differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for isolated Cataract containing 20 core candidate genes and altogether 137 curated genes according to the clinical signs
ID
KP0018
Number of genes
65
Accredited laboratory test
Examined sequence length
19,5 kb (Core-/Core-canditate-Genes)
111,3 kb (Extended panel: incl. additional genes)
111,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
BFSP1 | 1998 | NM_001195.5 | AD, AR | |
BFSP2 | 1248 | NM_003571.4 | AD | |
CHMP4B | 675 | NM_176812.5 | AD | |
CRYAA | 522 | NM_000394.4 | AD, AR | |
CRYBA1 | 648 | NM_005208.5 | 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 | |
CRYGD | 525 | NM_006891.4 | AD | |
CRYGS | 537 | NM_017541.4 | AD | |
EPHA2 | 2931 | NM_004431.5 | AD | |
FOXE3 | 960 | NM_012186.3 | AD, AR | |
GCNT2 | 1203 | NM_001491.3 | AR, AD | |
GJA3 | 1308 | NM_021954.4 | AD | |
HSF4 | 1389 | NM_001538.4 | AD | |
MIP | 792 | NM_012064.4 | AD | |
PAX6 | 1269 | NM_000280.5 | AD | |
PITX3 | 909 | NM_005029.4 | AD | |
AGK | 1269 | NM_018238.4 | AR | |
ALDH18A1 | 2388 | NM_002860.4 | AD, AR | |
ATAD3A | 1761 | NM_001170535.3 | AR | |
COL2A1 | 4464 | NM_001844.5 | AD | |
COL4A1 | 5010 | NM_001845.6 | AD | |
COL4A2 | 5139 | NM_001846.4 | AD | |
CRYAB | 528 | NM_001885.3 | AD, AR | |
CRYBA2 | 594 | NM_057093.2 | AD | |
CRYBA4 | 591 | NM_001886.3 | AD | |
CRYGB | 528 | NM_005210.4 | AD | |
CTDP1 | 2529 | NM_004715.5 | AR | |
CYP27A1 | 1596 | NM_000784.4 | AR | |
DHCR7 | 1428 | NM_001360.3 | AR | |
ERCC2 | 2283 | NM_000400.4 | AR | |
ERCC3 | 2349 | NM_000122.2 | AR | |
EYA1 | 1779 | NM_000503.6 | AD | |
FAR1 | 1548 | NM_032228.6 | AD, AR | |
FTL | 528 | NM_000146.4 | AD | |
FYCO1 | 4437 | NM_024513.4 | AR | |
GALK1 | 1179 | NM_000154.2 | AR | |
GALT | 1140 | NM_000155.4 | AR | |
GJA8 | 1302 | NM_005267.5 | AD | |
GTF2H5 | 216 | NM_207118.3 | AR | |
LIM2 | 648 | NM_030657.4 | AR | |
LONP1 | 2688 | NM_001276479.2 | AR | |
LSS | 2303 | NM_001001438.3 | AR | |
MAFA | 1062 | NM_201589.4 | AD | |
NF2 | 1788 | NM_000268.4 | AD | |
NHS | 4425 | NM_001136024.4 | XL | |
OPA3 | 540 | NM_025136.4 | AD | |
PEX11B | 780 | NM_003846.3 | AR | |
PEX7 | 972 | NM_000288.4 | AR | |
RAB3GAP2 | 4182 | NM_012414.4 | AR | |
RRAGA | 943 | NM_006570.5 | AD | |
SIL1 | 1386 | NM_022464.5 | AR | |
SIPA1L3 | 5366 | NM_015073.3 | AR | |
SLC16A12 | 1551 | NM_213606.4 | AD | |
SLC2A1 | 1479 |
| NM_006516.4 | AD |
SLC40A1 | 1716 | NM_014585.6 | AD | |
SRD5A3 | 957 | NM_024592.5 | AR | |
SREBF1 | 3534 | NM_001005291.3 | AD | |
TDRD7 | 3297 | NM_014290.3 | AR | |
TRPM3 | 768 | NM_001007470.3 | AD | |
UNC45B | 2790 | NM_001033576.2 | AD | |
VIM | 1401 | NM_003380.5 | AD | |
WFS1 | 2673 | NM_006005.3 | AD, AR |
Informations about the disease
Clinical Comment
High clinical + genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected
Synonyms
- Allelic: Adult i phenotype without cataract (GCNT2)
- Allelic: Alopecia-mental retardation syndrome 4 (LSS)
- Allelic: Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
- Allelic: Aniridia (PAX6)
- Allelic: Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
- Allelic: Ayme-Gripp syndrome (MAF)
- Allelic: Blood group, Ii (GCNT2)
- Allelic: Brain small vessel disease 2 (COL4A2)
- Allelic: Brain small vessel disease with/-out ocular anomalies (COL4A1)
- Allelic: Branchiootic syndrome 1 (EYA1)
- Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
- Allelic: Coloboma, ocular (PAX6)
- Allelic: Deafness, AD 6/14/38 (WFS1)
- Allelic: Diabetes mellitus, noninsulin-dependent, association with (WFS1)
- Allelic: Foveal hypoplasia 1 (PAX6)
- Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1, COL4A2)
- Allelic: Hypotrichosis 14 (LSS)
- Allelic: Keratitis (PAX6)
- Allelic: L-ferritin deficiency, dominant + recessive (FTL)
- Allelic: Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
- Allelic: Morning glory disc anomaly (PAX6)
- Allelic: Myofibrillar myopathy 11 (UNC45B)
- Allelic: Myopathy, myofibrillar, 2 (CRAB)
- Allelic: Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
- Allelic: Neurodegeneration with brain iron accumulation 3 (FTL)
- Allelic: Optic nerve hypoplasia (PAX6)
- Allelic: Otofaciocervical syndrome (EYA1)
- Allelic: Retinal arteries, tortuosity of (COL4A1)
- Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
- Anterior segment anomalies with/-out cataract (EYA1)
- Anterior segment dysgenesis 1, multiple subtypes (PITX3)
- Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
- Anterior segment dysgenesis 5, multiple subtypes (PAX6)
- Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
- CODAS syndrome [Cerebral, Ocular, Dental, Auricular, Skeletal anomalies s.] (LONP1)
- Cataract 1, multiple types (GJA8)
- Cataract 10, multiple types (CRYBA1)
- Cataract 11, multiple types (PITX3)
- Cataract 11, syndromic, AR (PITX3)
- Cataract 12, multiple types (BFSP2)
- 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 18, AR (FYCO1)
- Cataract 19, multiple types (LIM2)
- Cataract 2, multiple types (CRYGC)
- Cataract 20, multiple types (CRYGS)
- Cataract 21, multiple types (MAF)
- Cataract 22 (CRYBB3)
- Cataract 23 (CRYBA4)
- Cataract 3, multiple types (CRYBB2)
- Cataract 30, pulverulent (VIM)
- Cataract 31, multiple types (CHMP4B)
- Cataract 33, multiple types (BFSP1)
- Cataract 34, multiple types (FOXE3)
- Cataract 36 (TDRD7)
- Cataract 38, AR (AGK)
- Cataract 39, multiple types, AD (CRYGB)
- Cataract 4, multiple types (CRYGD)
- Cataract 40, XL (NHS)
- Cataract 41 (WFS1)
- Cataract 42 (CRYBA2)
- Cataract 43 (UNC45B)
- Cataract 44 (LSS)
- Cataract 45 (SIPA1L3)
- Cataract 47, juvenile, with microcornea (SLC16A12)
- Cataract 48 (DNMBP)
- Cataract 49 (PANK4)
- Cataract 5, multiple types (HSF4)
- Cataract 6, multiple types (EPHA2)
- Cataract 9, multiple types (CRYAA)
- Cataract with late-onset corneal dystrophy (PAX6)
- Cataract, AR, due to abnormal sterol metabolism [panelapp] (CYP51A1)
- Cerebrotendinous xanthomatosis (CYP27A1)
- Congenital cataracts, facial dysmorphism + neuropathy (CTDP1)
- Deafness, cataract, impaired intellectual development + polyneuropathy (PSMC3)
- Galactokinase deficiency with cataracts (GALK1)
- Generalized hypotonia, developmental delay, ID, seizures, autistic behavior [panelapp] (TRPM3)
- Hemochromatosis, type 4 (SLC40A1)
- Hyperferritinemia-cataract syndrome (FTL)
- Insulinomatosis + diabetes mellitus (MAFA)
- Isolated paediatric cataract [panelapp; MONDO:0005129] (PGRMC1)
- Marinesco-Sjogren syndrome (SIL1)
- Nance-Horan syndrome (NHS)
- Neurofibromatosis, type 2 (NF2)
- Peroxisome biogenesis disorder 14B (PEX11B)
- Peroxisome biogenesis disorder 9B (PEX7)
- Sengers syndrome (AGK)
- Stickler syndrome, type I, nonsyndromic ocular (COL2A1)
- Wolfram syndrome 1 (WFS1)
- Wolfram-like syndrome, AD (WFS1)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined