| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cataract v0.362 | RGS6 |
Seb Lunke gene: RGS6 was added gene: RGS6 was added to Cataract. Sources: Literature Mode of inheritance for gene: RGS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RGS6 were set to 38332109; 25525169 Phenotypes for gene: RGS6 were set to Cataract,MONDO:0005129; intellectual disability, MONDO:0001071; microcephaly, MONDO:0001149 Review for gene: RGS6 was set to RED Added comment: Original paper from 2015 describes single consanguineous with two siblings affected by cataract, developmental delay, and microcephaly >3SD. A homozygous canonical splice variant predicted to lead to NMD in RGS6 was identified by WGS and linkage (rather than full WGS analysis). The 2024 paper speculates that the phenotype is driven by a change in RGS6 isoform balance rather than LoF using a knock-out mouse model. It is noted that the mice did not have microcephaly, and ID was assessed using social interaction. No mention of cataract in the mice. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.358 | EPHA2 | Zornitza Stark Mode of inheritance for gene: EPHA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.355 | COL4A2 |
Ee Ming Wong gene: COL4A2 was added gene: COL4A2 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A2 were set to PMID: 26708157; 24203695 Phenotypes for gene: COL4A2 were set to Cataract (MONDO:0005129), COL4A2-related Review for gene: COL4A2 was set to AMBER gene: COL4A2 was marked as current diagnostic Added comment: - PMID: 26708157: One family with an autosomal dominant disorder comprising porencephaly, focal epilepsy, and lens opacities where p.Gly800Glu was identified in affected family members. The cataracts identified in this family was considered a phenotypic expansion associated with COL4A2 mutation. - PMID: 24203695: Heterozygous mice carrying the COL4A2 p.(Gly646Asp) variant demonstrated cerebral, muscular and ocular phenotypes including cataract. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.354 | TAPT1 |
Paul De Fazio gene: TAPT1 was added gene: TAPT1 was added to Cataract. Sources: Literature Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAPT1 were set to 36697720; 36652330 Phenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) Review for gene: TAPT1 was set to RED gene: TAPT1 was marked as current diagnostic Added comment: PMID: 36697720 - reports a patient with a biallelic frameshift variant in an infant with bilateral cateract, dysmorphic features, poor weight gain, and clinical symptoms reminiscent of osteogenesis imperfecta. A zebrafish knockout model showed aberrant lens development but no visible skeletal involvement. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.353 | DNA2 |
Seb Lunke gene: DNA2 was added gene: DNA2 was added to Cataract. Sources: Literature Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to 37133451 Phenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated Review for gene: DNA2 was set to AMBER Added comment: A phenotypic expansion has been proposed based on a cohort of six Brazilian probands that in addition to classic RTS also presented with poikiloderma and congenital cataracts. All shared the same deep intronic splice variant, c.588–2214 A>G, in trans with other LoF variants. The deep intronic variant has been shown to result in the inclusion of a cryptic exon in the mature RNA, resulting in a frame shift and premature termination codon. The authors speculate that the shared intronic variant, which they attribute to a founder effect, has residual normal splicing responsible for the phenotypic variation. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.353 | DNA2 |
Seb Lunke gene: DNA2 was added gene: DNA2 was added to Cataract. Sources: Literature deep intronic, founder tags were added to gene: DNA2. Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to 37133451 Phenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated Review for gene: DNA2 was set to AMBER Added comment: A phenotypic expansion has been proposed based on a cohort of six Brazilian probands that in addition to classic RTS also presented with poikiloderma and congenital cataracts. All shared the same deep intronic splice variant, c.588–2214 A>G, in trans with other LoF variants. The deep intronic variant has been shown to result in the inclusion of a cryptic exon in the mature RNA, resulting in a frame shift and premature termination codon. The authors speculate that the shared intronic variant, which they attribute to a founder effect, has residual normal splicing responsible for the phenotypic variation. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.350 | RNH1 |
Krithika Murali gene: RNH1 was added gene: RNH1 was added to Cataract. Sources: Literature Mode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNH1 were set to PMID: 36935417 Phenotypes for gene: RNH1 were set to RNH1-related disease Review for gene: RNH1 was set to AMBER Added comment: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, regression in the context of infection and seizures. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.349 | TRPM3 |
Zornitza Stark gene: TRPM3 was added gene: TRPM3 was added to Cataract. Sources: Expert list Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM3 were set to 25090642; 33484482 Phenotypes for gene: TRPM3 were set to Cataract 50 with or without glaucoma, MIM#620253 Review for gene: TRPM3 was set to AMBER Added comment: Single multi-generational family reported with a missense variant in this gene and cataract. Mouse model of same variant. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.347 | LEMD2 |
Seb Lunke gene: LEMD2 was added gene: LEMD2 was added to Cataract. Sources: Literature founder tags were added to gene: LEMD2. Mode of inheritance for gene: LEMD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LEMD2 were set to 31061923; 26788539; 30905398; 36377660 Phenotypes for gene: LEMD2 were set to Cataract 46, juvenile-onset, OMIM# 212500 Review for gene: LEMD2 was set to AMBER Added comment: Hom c38T>G LEMD2 variant associated with cataracts in 5 large Hutterite families, carriers at increased risk of sudden death associated with Arrhythmic dilated Cardiomyopathy. (pmid: 31061923, 26788539). Founder mutation, incomplete penetrance of cardiac phenotype likely. Later, a separate de-novo variant, c.1436C>T, has been described in two unrelated patients with an early progeroid appearance. No cataract or other ocular phenotypes were observed despite multiple ophthalmological examinations. Cardiac phenotypes do not appear to have been assessed. (pmid: 30905398) Most recently, Lemd2 knock-in mice for the c38T>G variants showed severe cardiomyopathy and premature death, which was rescued by AAV-Lemd2 vector induced overexpression. No indication of arrhythmia, cataract not assessed. (pmid: 36377660). It appears the cardiac and cataract phenotypes remain to be linked to the founder variant only, while no additional evidence for the progeroid phenotype is available at this time. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.345 | FOSL2 |
Krithika Murali gene: FOSL2 was added gene: FOSL2 was added to Cataract. Sources: Literature Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOSL2 were set to 36197437 Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related Review for gene: FOSL2 was set to GREEN Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies). In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism. Clinical features included: - Cutis aplasia congenital of the scalp (10/11) - Tooth enamel hypoplasia and discolouration (8/9) - Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis - 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset) - 6/9 IUGR - 5/9 postnatal growth restriction - 7/9 developmental delay/ID - 5/7 ADHD/ASD - 2/9 seizures Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.345 | GALK1 | Zornitza Stark Tag treatable tag was added to gene: GALK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.345 | GALT | Zornitza Stark Tag treatable tag was added to gene: GALT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.342 | GCNT2 | Zornitza Stark Mode of inheritance for gene: GCNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.337 | MIR184 | Zornitza Stark Mode of inheritance for gene: MIR184 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.334 | CRYGS | Zornitza Stark Mode of inheritance for gene: CRYGS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.331 | LIM2 | Zornitza Stark Mode of inheritance for gene: LIM2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.328 | BFSP1 | Zornitza Stark Mode of inheritance for gene: BFSP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.325 | CHMP4B | Zornitza Stark Mode of inheritance for gene: CHMP4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.322 | P3H2 | Zornitza Stark Mode of inheritance for gene: P3H2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.320 | AGK | Elena Savva Mode of inheritance for gene: AGK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.320 | AGK | Elena Savva Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.317 | CRYGD | Zornitza Stark Mode of inheritance for gene: CRYGD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.314 | CRYGC | Zornitza Stark Mode of inheritance for gene: CRYGC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.311 | CRYBB3 | Zornitza Stark Mode of inheritance for gene: CRYBB3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.308 | CRYBB2 | Zornitza Stark Mode of inheritance for gene: CRYBB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.305 | CRYBB1 | Zornitza Stark Mode of inheritance for gene: CRYBB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.302 | CRYBA4 | Zornitza Stark Mode of inheritance for gene: CRYBA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.299 | CRYBA1 | Zornitza Stark Mode of inheritance for gene: CRYBA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.296 | CRYAA | Zornitza Stark Mode of inheritance for gene: CRYAA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.293 | BFSP2 | Zornitza Stark Mode of inheritance for gene: BFSP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.290 | ADAMTS17 |
Zornitza Stark gene: ADAMTS17 was added gene: ADAMTS17 was added to Cataract. Sources: Expert Review Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS17 were set to 19836009; 22486325; 24940034 Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, MIM# 613195 Review for gene: ADAMTS17 was set to GREEN Added comment: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present. At least 3 unrelated families reported. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.286 | UBE2U |
Ee Ming Wong gene: UBE2U was added gene: UBE2U was added to Cataract. Sources: Literature Mode of inheritance for gene: UBE2U was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBE2U were set to PMID: 33776059 Phenotypes for gene: UBE2U were set to Retinoschisis; cataracts; learning disabilities; developmental delay Penetrance for gene: UBE2U were set to Complete Review for gene: UBE2U was set to RED gene: UBE2U was marked as current diagnostic Added comment: - one missense UBE2U variant identified in one family with five affected individuals (includes proband) - in silico analyses predicts the UBE2U variant to be damaging - no functional - another STUM missense variant identified in the same family predicted to be benign - additional clinical assessment indicated that the family shared some systemic dysmorphisms and learning disabilities similar to RIDDLE syndrome Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.285 | PGRMC1 |
Bryony Thompson gene: PGRMC1 was added gene: PGRMC1 was added to Cataract. Sources: Literature SV/CNV tags were added to gene: PGRMC1. Mode of inheritance for gene: PGRMC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGRMC1 were set to 33867527; 23783460 Phenotypes for gene: PGRMC1 were set to Isolated paediatric cataract Review for gene: PGRMC1 was set to AMBER Added comment: A single large family with X-linked isolated paediatric cataract segregating a large 127 kb deletion truncating PGRMC1. A supporting knockout zebrafish model with cataract. Also, two unrelated probands with non-syndromic ID and cataract with a large deletion encompassing PGRMC1 and SLC25A5. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.280 | FYCO1 | Zornitza Stark Mode of inheritance for gene: FYCO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.280 | FYCO1 | Zornitza Stark Mode of inheritance for gene: FYCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.275 | MED27 |
Zornitza Stark gene: MED27 was added gene: MED27 was added to Cataract. Sources: Literature Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED27 were set to 33443317 Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286 Review for gene: MED27 was set to GREEN Added comment: 16 individuals from 11 families reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.272 | FAR1 | Zornitza Stark Mode of inheritance for gene: FAR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.270 | FAR1 |
Chirag Patel gene: FAR1 was added gene: FAR1 was added to Cataract. Sources: Literature Mode of inheritance for gene: FAR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAR1 were set to PMID: 33239752 Phenotypes for gene: FAR1 were set to spastic paraparesis and bilateral cataracts Review for gene: FAR1 was set to GREEN Added comment: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.266 | COPB1 |
Zornitza Stark gene: COPB1 was added gene: COPB1 was added to Cataract. Sources: Literature Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPB1 were set to 33632302 Phenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts Review for gene: COPB1 was set to AMBER Added comment: Two unrelated families, some supportive functional data. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.263 | SC5D | Zornitza Stark Mode of inheritance for gene: SC5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.260 | NSUN2 |
Tiong Tan gene: NSUN2 was added gene: NSUN2 was added to Cataract. Sources: Literature Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NSUN2 were set to Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features Penetrance for gene: NSUN2 were set to Complete Review for gene: NSUN2 was set to AMBER Added comment: Two siblings compound het for two variants c.546_547insCT, p.Met183Leufs*13; c.1583del, p.Pro528Hisfs*19 and juvenile cataracts Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.259 | CTDP1 | Zornitza Stark Tag deep intronic tag was added to gene: CTDP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.258 | ZNF526 |
Zornitza Stark gene: ZNF526 was added gene: ZNF526 was added to Cataract. Sources: Literature Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF526 were set to 21937992; 25558065; 33397746 Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia Review for gene: ZNF526 was set to GREEN Added comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene. - PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided. - PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.255 | GJA8 | Zornitza Stark Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.252 | RAB3GAP2 | Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.249 | RAB3GAP1 | Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.246 | PXDN | Zornitza Stark Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.244 | DPAGT1 |
Zornitza Stark gene: DPAGT1 was added gene: DPAGT1 was added to Cataract. Sources: Expert Review Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 12872255; 22492991; 22304930; 31153949; 30653653; 30117111 Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964 Review for gene: DPAGT1 was set to GREEN Added comment: Cataracts reported in more than 3 unrelated families with this Type I CDG. Other common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. Overall, more than 20 unrelated families reported. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.243 | ANAPC1 | Zornitza Stark Tag deep intronic tag was added to gene: ANAPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.241 | JAM3 | Zornitza Stark Mode of inheritance for gene: JAM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.240 | ARL2 |
Zornitza Stark gene: ARL2 was added gene: ARL2 was added to Cataract. Sources: Expert list Mode of inheritance for gene: ARL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARL2 were set to 30945270 Phenotypes for gene: ARL2 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082 Review for gene: ARL2 was set to RED Added comment: Single family reported, missense variant segregating with structural eye abnormalities in 4 individuals (father and three daughters). Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.237 | SREBF1 |
Zornitza Stark gene: SREBF1 was added gene: SREBF1 was added to Cataract. Sources: Expert Review Mode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SREBF1 were set to 31790666; 32902915 Phenotypes for gene: SREBF1 were set to Mucoepithelial dysplasia, hereditary, MIM#158310 Review for gene: SREBF1 was set to GREEN Added comment: HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.235 | EPG5 |
Zornitza Stark gene: EPG5 was added gene: EPG5 was added to Cataract. Sources: Expert Review Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957; 26917586 Phenotypes for gene: EPG5 were set to Vici syndrome, MIM# 242840 Review for gene: EPG5 was set to GREEN Added comment: Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. Well established gene disease association, over 50 families reported. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.233 | COL9A2 |
Natalie Tan gene: COL9A2 was added gene: COL9A2 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL9A2 were set to PMID: 31090205; 21671392; 20686772; 27666725; 15802199; 15710493 Phenotypes for gene: COL9A2 were set to Stickler syndrome, type V, MIM# 614284 Review for gene: COL9A2 was set to GREEN Added comment: Bi-allelic variants have been associated with Stickler syndrome in three unrelated families. Association is supported by multiple animal models. [Modified review by ZS from Deafness_IsolatedAndComplex panel.] Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.232 | COL9A1 |
Natalie Tan gene: COL9A1 was added gene: COL9A1 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL9A1 were set to PMID: 21421862; 16909383 Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134 Review for gene: COL9A1 was set to GREEN Added comment: At least three families reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.230 | RAB18 | Zornitza Stark Tag founder tag was added to gene: RAB18. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.228 | RAB18 | Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.226 | PSMC3 |
Zornitza Stark gene: PSMC3 was added gene: PSMC3 was added to Cataract. Sources: Literature Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMC3 were set to 32500975 Phenotypes for gene: PSMC3 were set to Deafness; cataract Review for gene: PSMC3 was set to AMBER Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.223 | BCOR | Zornitza Stark Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.220 | ITPA | Zornitza Stark Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.215 | LMX1B | Zornitza Stark Mode of inheritance for gene: LMX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.213 | PIK3R1 | Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.210 | GJA1 | Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.207 | LCAT |
Dean Phelan gene: LCAT was added gene: LCAT was added to Cataract. Sources: Literature Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: LCAT was set to RED Added comment: OMIM: Norum disease (AR) - Corneal lipid deposits, Corneal opacities Fish-eye disease (AR) - Corneal opacities Discussion with ZS - Corneal opacities not the same as cataracts and often misdiagnosed. Therefore leave as Red at this stage. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.206 | ISPD |
Seb Lunke gene: ISPD was added gene: ISPD was added to Cataract. Sources: Literature Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISPD were set to 22522421; 22522420 Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 MIM#614643 Added comment: >10 independent patients with congential cataract as part of muscular dystrophy presentation, plus functional studies in zebra fish. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.201 | LONP1 |
Naomi Baker changed review comment from: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of pateints with infantile cataract identified a biallelic LONP1 mutation in patient with stand-alone cataract (PMID: 29408517). Sources: Literature; to: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of patients with infantile cataract identified a biallelic LONP1 mutation in a patient who was otherwise healthy (PMID: 29408517). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.201 | GTF2H5 |
Ain Roesley gene: GTF2H5 was added gene: GTF2H5 was added to Cataract. Sources: Literature Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2H5 were set to 15220921,24986372 Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive (MIM# 616395) Penetrance for gene: GTF2H5 were set to unknown Review for gene: GTF2H5 was set to GREEN Added comment: PMID: 24986372; A 5‐year‐old male, born as a collodion baby from healthy non‐consanguineous parents, exhibited sun sensitivity, brittle hair, ichthyosis, cataracts and mental/physical retardation. He demonstrated neither neurological abnormalities nor pigmentary changes following sun exposure. Homozygous for a nonsense variant. PMID: 15220921; 2 out of 4 patients have cataracts. The 2 patients without cataracts are siblings. (2x homs for PTVs, 1x chet for PTV and missense) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.201 | LONP1 |
Naomi Baker gene: LONP1 was added gene: LONP1 was added to Cataract. Sources: Literature Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to PMID: 25574826; 29408517. Phenotypes for gene: LONP1 were set to CODAS syndrome MIM# 600373 Penetrance for gene: LONP1 were set to Complete Review for gene: LONP1 was set to GREEN Added comment: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of pateints with infantile cataract identified a biallelic LONP1 mutation in patient with stand-alone cataract (PMID: 29408517). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.201 | GFER |
Paul De Fazio gene: GFER was added gene: GFER was added to Cataract. Sources: Literature Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 19409522; 25269795 Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay MIM#613076 Review for gene: GFER was set to AMBER gene: GFER was marked as current diagnostic Added comment: One family (3 sibs born to healthy consang parents) described with progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay had a homozygous missense variant (PMID:19409522). Studies of patient fibroblasts and muscle tissue showed: a reduction in complex I, II, and IV activity; a lower cysteine-rich protein content; abnormal ultrastructural morphology of the mitochondria, with enlargement of the IMS space; and accelerated time-dependent accumulation of multiple mtDNA deletions. Additional functional studies in yeast also showed mitochondrial defects. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.200 | GLS |
Zornitza Stark gene: GLS was added gene: GLS was added to Cataract. Sources: Expert list Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLS were set to 30239721 Phenotypes for gene: GLS were set to Infantile cataracts Review for gene: GLS was set to AMBER Added comment: Single family and a zebrafish model. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.197 | GEMIN4 |
Seb Lunke gene: GEMIN4 was added gene: GEMIN4 was added to Cataract. Sources: Literature Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN4 were set to 25558065; 27878435 Phenotypes for gene: GEMIN4 were set to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 Review for gene: GEMIN4 was set to GREEN Added comment: From GEL: PMID: 25558065 reported on 5 affected patients from 3 unrelated consanguineous Saudi families with neurodevelopmental disorder, microcephaly cataracts and renal abnormalities. PMID: 27878435 reported on a different family with a different variant that was previously reported. The same paper also performed mouse studies and found that the gene is down regulated in key gene knockout mice with lens defects. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.194 | NHS | Zornitza Stark Mode of inheritance for gene: NHS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.192 | NF2 | Zornitza Stark Mode of inheritance for gene: NF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.190 | NDP | Zornitza Stark Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.187 | FKTN | Zornitza Stark Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.184 | FBN1 | Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.181 | NACC1 | Zornitza Stark Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.180 | ESCO2 |
Seb Lunke gene: ESCO2 was added gene: ESCO2 was added to Cataract. Sources: Literature Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESCO2 were set to 19574259 Phenotypes for gene: ESCO2 were set to Craniofacial abnormalities; Developmental Delay; Corneal opacities; Growth retardation; Limb abnormalities; Roberts syndrome 238300 Review for gene: ESCO2 was set to AMBER Added comment: Corneal opacities described in 13/36 cases with Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.177 | EIF2B2 |
Seb Lunke gene: EIF2B2 was added gene: EIF2B2 was added to Cataract. Sources: Literature Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B2 were set to 21484434; 14566705; 28041799 Phenotypes for gene: EIF2B2 were set to leukodystrophy; congenital cataracts gene: EIF2B2 was marked as current diagnostic Added comment: From GEL: There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.174 | CTDP1 | Zornitza Stark Mode of inheritance for gene: CTDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.172 | CTDP1 | Zornitza Stark Tag founder tag was added to gene: CTDP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.172 | DYRK1A |
Seb Lunke gene: DYRK1A was added gene: DYRK1A was added to Cataract. Sources: Literature Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYRK1A were set to 28053047; 25944381 Phenotypes for gene: DYRK1A were set to congenital cataracts Review for gene: DYRK1A was set to RED Added comment: Really only one patient where cataract has been attributed directly to DYRK1A variant, 13 others with DYRK1A variants did not have cataracts (28053047). Second mention of cataract the gene was part of a large multi-gene deletion, and again other patients with DYRK1A (28053047) variants did not have cataract. Insufficient evidence. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.170 | DNMBP |
Seb Lunke gene: DNMBP was added gene: DNMBP was added to Cataract. Sources: Literature Mode of inheritance for gene: DNMBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNMBP were set to 30290152 Phenotypes for gene: DNMBP were set to congenital cataract Review for gene: DNMBP was set to GREEN gene: DNMBP was marked as current diagnostic Added comment: Multiple individuals from three independent large consanguineous families with bilateral infantile cataracts. Seperate hom nonsense variants. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.169 | CRYGA |
Seb Lunke Tag refuted was removed from gene: CRYGA. Tag disputed tag was added to gene: CRYGA. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.169 | CRYGA | Zornitza Stark Tag refuted tag was added to gene: CRYGA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.168 | CRYGA |
Seb Lunke gene: CRYGA was added gene: CRYGA was added to Cataract. Sources: Literature Mode of inheritance for gene: CRYGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYGA were set to 30450742; 28839118 Review for gene: CRYGA was set to RED Added comment: Reported as potentially disease causing in multiple individuals from two seperate families, but in both cases variant is present in the general population (20 Hets for one variant, >1000 hets and 9 homs in other variant) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.167 | AKR1E2 |
Seb Lunke gene: AKR1E2 was added gene: AKR1E2 was added to Cataract. Sources: Literature Mode of inheritance for gene: AKR1E2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1E2 were set to 26622071; 26622071 Phenotypes for gene: AKR1E2 were set to congenital cararact Review for gene: AKR1E2 was set to RED Added comment: Same family with homozygous canonical splice variants and 3 cases of congenital cataract described in 2012 (original) and 2015 (review). No other descriptions since. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.166 | ADAMTSL4 |
Seb Lunke gene: ADAMTSL4 was added gene: ADAMTSL4 was added to Cataract. Sources: Literature Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL4 were set to 22338190; 20702823 Phenotypes for gene: ADAMTSL4 were set to ectopia lentis; cataract Review for gene: ADAMTSL4 was set to RED Added comment: Early onset cataract described in multiple patients with variants in ADAMTSL4 as a secondary manifestation to Ectopia lentis et pupillae (MIM 225200) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.164 | ABHD12 |
Seb Lunke gene: ABHD12 was added gene: ABHD12 was added to Cataract. Sources: Literature Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD12 were set to 32077159; 29571850; 28448692; 24697911 Phenotypes for gene: ABHD12 were set to Polyneuropathy; Hearing loss; Ataxia; Retinitis pigmentosa; Cataracts Added comment: Two siblings each from two families with hom nonsense and PHARC syndrome and early on-set cataract, and a complex homozygous nonsense variant in an adult with early on-set cataract have been descibed recently in addition to original mutations described in 11 families from 4 different countries (Fiskerstrand et al (2010)). Total over 10 independent cases mentioned in literature. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.160 | POLG | Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.158 | RIC1 |
Zornitza Stark gene: RIC1 was added gene: RIC1 was added to Cataract. Sources: Expert list Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIC1 were set to 27878435; 31932796 Phenotypes for gene: RIC1 were set to CATIFA syndrome, MIM# 618761 Review for gene: RIC1 was set to AMBER Added comment: 8 individuals from two consanguineous families, homozygous for same missense variant (founder effect). Cataract is a key feature of the phenotype. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.155 | SLC16A12 | Zornitza Stark Mode of inheritance for gene: SLC16A12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.153 | WFS1 |
Zornitza Stark gene: WFS1 was added gene: WFS1 was added to Cataract. Sources: Expert list Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WFS1 were set to 32350710 Phenotypes for gene: WFS1 were set to Wolfram syndrome 1, MIM# 222300 Review for gene: WFS1 was set to GREEN Added comment: Cataracts reported in ~40% in a cohort of affected individuals. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.151 | XYLT2 |
Zornitza Stark gene: XYLT2 was added gene: XYLT2 was added to Cataract. Sources: Expert list Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26027496 Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome, MIM# 605822 Review for gene: XYLT2 was set to GREEN Added comment: Cataracts are a key feature of this condition. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.149 | ADD3 |
Elena Savva gene: ADD3 was added gene: ADD3 was added to Cataract. Sources: Literature Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADD3 were set to PMID: 29768408; 23836506 Phenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3 617008 Review for gene: ADD3 was set to AMBER Added comment: PMID: 29768408;23836506 - 4/5 patients (2 families) with early-onset bilateral cataracts Two families, emerging gene Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.147 | SIL1 | Zornitza Stark Mode of inheritance for gene: SIL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.144 | HSF4 | Zornitza Stark Mode of inheritance for gene: HSF4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.139 | COG4 |
Chirag Patel gene: COG4 was added gene: COG4 was added to Cataract. Sources: Literature Mode of inheritance for gene: COG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489 Phenotypes for gene: COG4 were set to PMID: 31949312; 30290151 Review for gene: COG4 was set to GREEN Added comment: Saul-Wilson syndrome (AD) 14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like) All have a recurrent de novo heterozygous missense variant (p.Gly516Arg) Congenital disorder of glycosylation, type IIj (AR) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.137 | GALM |
Zornitza Stark gene: GALM was added gene: GALM was added to Cataract. Sources: Literature Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALM were set to 30451973; 30910422 Phenotypes for gene: GALM were set to galactosaemia; type IV galactosaemia Review for gene: GALM was set to GREEN Added comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia. In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422) Note only two of the reported individuals had cataracts. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.134 | TDRD7 | Zornitza Stark Mode of inheritance for gene: TDRD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.132 | LSS |
Bryony Thompson gene: LSS was added gene: LSS was added to Cataract. Sources: Literature Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSS were set to 26200341; 29016354 Phenotypes for gene: LSS were set to Cataract 44 MIM#616509 Review for gene: LSS was set to GREEN Added comment: Three families reported with congenital cataracts with biallelic variants in LSS. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.126 | SIPA1L3 |
Bryony Thompson gene: SIPA1L3 was added gene: SIPA1L3 was added to Cataract. Sources: Expert list Mode of inheritance for gene: SIPA1L3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SIPA1L3 were set to 28951961; 27993984; 25804400 Phenotypes for gene: SIPA1L3 were set to Cataract 45 MIM#616851 Review for gene: SIPA1L3 was set to AMBER Added comment: A consanguineous German family segregating a homozygous nonsense mutation in two sisters with congenital cataracts (PMID: 25804400). Null Zebrafish, Xenopus and mouse models recapitulate the human cataract phenotype. A case with congenital cataracts as a feature of their condition harboured a de novo balanced chromosomal translocation, 46,XY,t(2;19)(q37.3;q13.1), where breakpoint mapping and sequencing showed a physical disruption of the 5′UTR of SIPA1L3 (PMID: 26231217). In a case with bilateral congenital cataracts a heterozygous missense (D148Y) was identified and in vitro functional assays of the variant resulted in abnormal actin morphology (PMID: 26231217). Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.122 | POMT2 | Bryony Thompson Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.118 | OAT |
Bryony Thompson gene: OAT was added gene: OAT was added to Cataract. Sources: Expert list Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAT were set to 22674428; 11297489 Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870 Review for gene: OAT was set to GREEN Added comment: Onset of cataract in the second/third decade is a common feature of this condition. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.113 | MSMO1 |
Bryony Thompson gene: MSMO1 was added gene: MSMO1 was added to Cataract. Sources: Expert list Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSMO1 were set to 21285510; 24144731; 28673550 Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834 Review for gene: MSMO1 was set to GREEN Added comment: At least 3 probands with biallelic variant and congenital cataract as a prominent feature of the condition. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.106 | TMEM70 |
Bryony Thompson gene: TMEM70 was added gene: TMEM70 was added to Cataract. Sources: Expert list Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM70 were set to 21147908; 23235116; 27454254 Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052 Review for gene: TMEM70 was set to AMBER Added comment: Four cases from three unrelated consanguineous families with two different variants, with cataracts as a feature of the condition. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.104 | WAS | Bryony Thompson Marked gene: WAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.104 | WAS | Bryony Thompson Gene: was has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.104 | WAS | Bryony Thompson Classified gene: WAS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.104 | WAS | Bryony Thompson Gene: was has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.103 | WAS | Bryony Thompson reviewed gene: WAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiskott-Aldrich syndrome MIM#301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.99 | BTK | Zornitza Stark Mode of inheritance for gene: BTK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.95 | HPS1 | Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.91 | HPS4 | Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.87 | HPS6 | Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.83 | ICOS | Zornitza Stark Mode of inheritance for gene: ICOS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.79 | IKBKG | Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.75 | IL10RA | Zornitza Stark Mode of inheritance for gene: IL10RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.72 | IL10RB | Zornitza Stark Mode of inheritance for gene: IL10RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.69 | IL2RG | Zornitza Stark Mode of inheritance for gene: IL2RG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.66 | ITGB2 | Zornitza Stark Mode of inheritance for gene: ITGB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.62 | LARGE1 | Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.60 | HTRA2 |
Lauren Akesson gene: HTRA2 was added gene: HTRA2 was added to Cataract. Sources: Literature Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to PMID: 27696117; 27208207 Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria type VIII (617248) Penetrance for gene: HTRA2 were set to unknown Review for gene: HTRA2 was set to GREEN Added comment: Cataract is listed as part of the phenotype of 3-methylglutaconic aciduria caused by HTRA2 in OMIM (617248). Cataracts are a well established phenotypic feature of 3-methylglutaconic aciduria, which is caused by several genes including HTRA2. At least one proband with a homozygous HTRA2 variant has cataracts (PMID 27696117). A total of four unrelated families with homozygous HTRA2 variants demonstrate 3-methylglutaconic aciduria (PMID 27696117; 27208207) of which two variants segregate with disease within the families (PMID 27208207) and two variants have functional studies (PMID 27696117). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.59 | FOXP3 | Zornitza Stark Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.54 | CYBA | Zornitza Stark Mode of inheritance for gene: CYBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.51 | CYBB | Zornitza Stark Mode of inheritance for gene: CYBB was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.48 | DCLRE1C | Zornitza Stark Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.44 | DOCK8 | Zornitza Stark Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.43 | DOCK8 | Zornitza Stark Tag SV/CNV tag was added to gene: DOCK8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.39 | EPCAM | Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.35 | FKRP | Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.33 | EED |
Lauren Akesson gene: EED was added gene: EED was added to Cataract. Sources: Literature Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EED were set to 25787343 Phenotypes for gene: EED were set to Cohen-Gibson syndrome Penetrance for gene: EED were set to unknown Review for gene: EED was set to AMBER Added comment: Cataract has been reported in a single proband with a heterozygous missense variant in EED (no functional studies performed) (PMID 25787343). Cataracts have not been reported in subsequent probands (PMID 27193220 ; 27868325 ; 28229514 ; 29410511 ; 30858506). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.32 | CD40LG | Zornitza Stark Mode of inheritance for gene: CD40LG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.24 | ADAM17 | Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.21 | ADA | Zornitza Stark Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.18 | PLOD3 |
Lauren Akesson gene: PLOD3 was added gene: PLOD3 was added to Cataract. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 30463024; 31129566 Phenotypes for gene: PLOD3 were set to cataract Penetrance for gene: PLOD3 were set to unknown Review for gene: PLOD3 was set to GREEN Added comment: Complex phenotype that includes cataracts in 3/5 described unrelated families Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.16 | INTS1 | Zornitza Stark Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.14 | TKFC |
Zornitza Stark gene: TKFC was added gene: TKFC was added to Cataract. Sources: Literature Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKFC were set to 32004446 Phenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction Review for gene: TKFC was set to AMBER Added comment: Two unrelated individuals reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.12 | ANAPC1 |
Alison Yeung gene: ANAPC1 was added gene: ANAPC1 was added to Cataract. Sources: Literature Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANAPC1 were set to PMID: 31303264 Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM 618625 Review for gene: ANAPC1 was set to GREEN gene: ANAPC1 was marked as current diagnostic Added comment: 7 reported unrelated families Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.10 | PIK3C2A |
Zornitza Stark gene: PIK3C2A was added gene: PIK3C2A was added to Cataract. Sources: Literature Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIK3C2A were set to 31034465 Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440 Review for gene: PIK3C2A was set to GREEN gene: PIK3C2A was marked as current diagnostic Added comment: Three unrelated consanguineous families reported with bi-allelic LoF variants. Cataracts are part of the phenotype. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.6 | NUP188 | Zornitza Stark Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.3 | PANK4 |
Zornitza Stark gene: PANK4 was added gene: PANK4 was added to Cataract_VCGS. Sources: Literature Mode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PANK4 were set to 30585370 Phenotypes for gene: PANK4 were set to Congenital posterior cataract Review for gene: PANK4 was set to AMBER Added comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.1 | PISD | Zornitza Stark Mode of inheritance for gene: PISD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | ZAP70 |
Zornitza Stark gene: ZAP70 was added gene: ZAP70 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZAP70 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | XIAP |
Zornitza Stark gene: XIAP was added gene: XIAP was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: XIAP was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | WRN |
Zornitza Stark gene: WRN was added gene: WRN was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WRN was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | WAS |
Zornitza Stark gene: WAS was added gene: WAS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WAS was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | VSX2 |
Zornitza Stark gene: VSX2 was added gene: VSX2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VSX2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | VIM |
Zornitza Stark gene: VIM was added gene: VIM was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VIM was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | TTC37 |
Zornitza Stark gene: TTC37 was added gene: TTC37 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TTC37 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | TFAP2A |
Zornitza Stark gene: TFAP2A was added gene: TFAP2A was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TFAP2A was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | TDRD7 |
Zornitza Stark gene: TDRD7 was added gene: TDRD7 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TDRD7 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | STXBP2 |
Zornitza Stark gene: STXBP2 was added gene: STXBP2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STXBP2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | SRD5A3 |
Zornitza Stark gene: SRD5A3 was added gene: SRD5A3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SRD5A3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | SLC37A4 |
Zornitza Stark gene: SLC37A4 was added gene: SLC37A4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC37A4 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | SLC33A1 |
Zornitza Stark gene: SLC33A1 was added gene: SLC33A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC33A1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | SLC2A1 |
Zornitza Stark gene: SLC2A1 was added gene: SLC2A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC2A1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | SLC16A12 |
Zornitza Stark gene: SLC16A12 was added gene: SLC16A12 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC16A12 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | SKIV2L |
Zornitza Stark gene: SKIV2L was added gene: SKIV2L was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SKIV2L was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | SIL1 |
Zornitza Stark gene: SIL1 was added gene: SIL1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SIL1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | SH2D1A |
Zornitza Stark gene: SH2D1A was added gene: SH2D1A was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SH2D1A was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | SC5D |
Zornitza Stark gene: SC5D was added gene: SC5D was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SC5D was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | RET |
Zornitza Stark gene: RET was added gene: RET was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RET was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | RAG2 |
Zornitza Stark gene: RAG2 was added gene: RAG2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAG2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | RAB3GAP2 |
Zornitza Stark gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAB3GAP2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | RAB3GAP1 |
Zornitza Stark gene: RAB3GAP1 was added gene: RAB3GAP1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAB3GAP1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | RAB18 |
Zornitza Stark gene: RAB18 was added gene: RAB18 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAB18 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PXDN |
Zornitza Stark gene: PXDN was added gene: PXDN was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PXDN was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | POMT2 |
Zornitza Stark gene: POMT2 was added gene: POMT2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMT2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | POMT1 |
Zornitza Stark gene: POMT1 was added gene: POMT1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMT1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | POLG |
Zornitza Stark gene: POLG was added gene: POLG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLG was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PLCG2 |
Zornitza Stark gene: PLCG2 was added gene: PLCG2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLCG2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PITX3 |
Zornitza Stark gene: PITX3 was added gene: PITX3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PITX3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PISD |
Zornitza Stark gene: PISD was added gene: PISD was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PISD was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PIK3R1 |
Zornitza Stark gene: PIK3R1 was added gene: PIK3R1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIK3R1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX7 |
Zornitza Stark gene: PEX7 was added gene: PEX7 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX7 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX6 |
Zornitza Stark gene: PEX6 was added gene: PEX6 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX6 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX5 |
Zornitza Stark gene: PEX5 was added gene: PEX5 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX5 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX3 |
Zornitza Stark gene: PEX3 was added gene: PEX3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX26 |
Zornitza Stark gene: PEX26 was added gene: PEX26 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX26 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX2 |
Zornitza Stark gene: PEX2 was added gene: PEX2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX19 |
Zornitza Stark gene: PEX19 was added gene: PEX19 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX19 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX16 |
Zornitza Stark gene: PEX16 was added gene: PEX16 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX16 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX14 |
Zornitza Stark gene: PEX14 was added gene: PEX14 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX14 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX13 |
Zornitza Stark gene: PEX13 was added gene: PEX13 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX13 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX12 |
Zornitza Stark gene: PEX12 was added gene: PEX12 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX12 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX11B |
Zornitza Stark gene: PEX11B was added gene: PEX11B was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX11B was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX10 |
Zornitza Stark gene: PEX10 was added gene: PEX10 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX10 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PEX1 |
Zornitza Stark gene: PEX1 was added gene: PEX1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PAX6 |
Zornitza Stark gene: PAX6 was added gene: PAX6 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PAX6 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | P3H2 |
Zornitza Stark gene: P3H2 was added gene: P3H2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: P3H2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | OPA3 |
Zornitza Stark gene: OPA3 was added gene: OPA3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OPA3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | OCRL |
Zornitza Stark gene: OCRL was added gene: OCRL was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OCRL was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | NUP188 |
Zornitza Stark gene: NUP188 was added gene: NUP188 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NUP188 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | NHS |
Zornitza Stark gene: NHS was added gene: NHS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NHS was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | NF2 |
Zornitza Stark gene: NF2 was added gene: NF2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NF2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | NDP |
Zornitza Stark gene: NDP was added gene: NDP was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NDP was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | NCF4 |
Zornitza Stark gene: NCF4 was added gene: NCF4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NCF4 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | NCF2 |
Zornitza Stark gene: NCF2 was added gene: NCF2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NCF2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | NCF1 |
Zornitza Stark gene: NCF1 was added gene: NCF1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NCF1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | NACC1 |
Zornitza Stark gene: NACC1 was added gene: NACC1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NACC1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | MYH9 |
Zornitza Stark gene: MYH9 was added gene: MYH9 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYH9 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | MIR184 |
Zornitza Stark gene: MIR184 was added gene: MIR184 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MIR184 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | MIP |
Zornitza Stark gene: MIP was added gene: MIP was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MIP was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | MAN2B1 |
Zornitza Stark gene: MAN2B1 was added gene: MAN2B1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAN2B1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | MAF |
Zornitza Stark gene: MAF was added gene: MAF was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAF was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | LRBA |
Zornitza Stark gene: LRBA was added gene: LRBA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRBA was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | LMX1B |
Zornitza Stark gene: LMX1B was added gene: LMX1B was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LMX1B was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | LIM2 |
Zornitza Stark gene: LIM2 was added gene: LIM2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIM2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | LIG4 |
Zornitza Stark gene: LIG4 was added gene: LIG4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIG4 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | LARGE1 |
Zornitza Stark gene: LARGE1 was added gene: LARGE1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LARGE1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | JAM3 |
Zornitza Stark gene: JAM3 was added gene: JAM3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: JAM3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | ITPA |
Zornitza Stark gene: ITPA was added gene: ITPA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ITPA was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | ITGB2 |
Zornitza Stark gene: ITGB2 was added gene: ITGB2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ITGB2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | INTS1 |
Zornitza Stark gene: INTS1 was added gene: INTS1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: INTS1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | INPP5K |
Zornitza Stark gene: INPP5K was added gene: INPP5K was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: INPP5K was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | IL2RG |
Zornitza Stark gene: IL2RG was added gene: IL2RG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IL2RG was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | IL10RB |
Zornitza Stark gene: IL10RB was added gene: IL10RB was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IL10RB was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | IL10RA |
Zornitza Stark gene: IL10RA was added gene: IL10RA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IL10RA was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | IL10 |
Zornitza Stark gene: IL10 was added gene: IL10 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IL10 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | IKBKG |
Zornitza Stark gene: IKBKG was added gene: IKBKG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IKBKG was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | ICOS |
Zornitza Stark gene: ICOS was added gene: ICOS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ICOS was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | HSF4 |
Zornitza Stark gene: HSF4 was added gene: HSF4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HSF4 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | HPS6 |
Zornitza Stark gene: HPS6 was added gene: HPS6 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HPS6 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | HPS4 |
Zornitza Stark gene: HPS4 was added gene: HPS4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HPS4 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | HPS1 |
Zornitza Stark gene: HPS1 was added gene: HPS1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HPS1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | HMX1 |
Zornitza Stark gene: HMX1 was added gene: HMX1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HMX1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | GUCY2C |
Zornitza Stark gene: GUCY2C was added gene: GUCY2C was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GUCY2C was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | GNPAT |
Zornitza Stark gene: GNPAT was added gene: GNPAT was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNPAT was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | GJA8 |
Zornitza Stark gene: GJA8 was added gene: GJA8 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJA8 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | GJA3 |
Zornitza Stark gene: GJA3 was added gene: GJA3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJA3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | GJA1 |
Zornitza Stark gene: GJA1 was added gene: GJA1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJA1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | GCNT2 |
Zornitza Stark gene: GCNT2 was added gene: GCNT2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GCNT2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | GALT |
Zornitza Stark gene: GALT was added gene: GALT was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GALT was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | GALK1 |
Zornitza Stark gene: GALK1 was added gene: GALK1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GALK1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | FYCO1 |
Zornitza Stark gene: FYCO1 was added gene: FYCO1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FYCO1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | FTL |
Zornitza Stark gene: FTL was added gene: FTL was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FTL was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | FOXP3 |
Zornitza Stark gene: FOXP3 was added gene: FOXP3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXP3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | FOXE3 |
Zornitza Stark gene: FOXE3 was added gene: FOXE3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXE3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | FKTN |
Zornitza Stark gene: FKTN was added gene: FKTN was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FKTN was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | FKRP |
Zornitza Stark gene: FKRP was added gene: FKRP was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FKRP was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | FBN1 |
Zornitza Stark gene: FBN1 was added gene: FBN1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FBN1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | FAM126A |
Zornitza Stark gene: FAM126A was added gene: FAM126A was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAM126A was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | ERCC8 |
Zornitza Stark gene: ERCC8 was added gene: ERCC8 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ERCC8 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | ERCC6 |
Zornitza Stark gene: ERCC6 was added gene: ERCC6 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ERCC6 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | ERCC3 |
Zornitza Stark gene: ERCC3 was added gene: ERCC3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ERCC3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | ERCC2 |
Zornitza Stark gene: ERCC2 was added gene: ERCC2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ERCC2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | EPHA2 |
Zornitza Stark gene: EPHA2 was added gene: EPHA2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPHA2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | EPCAM |
Zornitza Stark gene: EPCAM was added gene: EPCAM was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPCAM was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | DOCK8 |
Zornitza Stark gene: DOCK8 was added gene: DOCK8 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DOCK8 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | DHCR7 |
Zornitza Stark gene: DHCR7 was added gene: DHCR7 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DHCR7 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | DCLRE1C |
Zornitza Stark gene: DCLRE1C was added gene: DCLRE1C was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DCLRE1C was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CYP51A1 |
Zornitza Stark gene: CYP51A1 was added gene: CYP51A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP51A1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CYP27A1 |
Zornitza Stark gene: CYP27A1 was added gene: CYP27A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP27A1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CYBB |
Zornitza Stark gene: CYBB was added gene: CYBB was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYBB was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CYBA |
Zornitza Stark gene: CYBA was added gene: CYBA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYBA was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CTDP1 |
Zornitza Stark gene: CTDP1 was added gene: CTDP1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTDP1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CRYGS |
Zornitza Stark gene: CRYGS was added gene: CRYGS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYGS was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CRYGD |
Zornitza Stark gene: CRYGD was added gene: CRYGD was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYGD was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CRYGC |
Zornitza Stark gene: CRYGC was added gene: CRYGC was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYGC was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CRYBB3 |
Zornitza Stark gene: CRYBB3 was added gene: CRYBB3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYBB3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CRYBB2 |
Zornitza Stark gene: CRYBB2 was added gene: CRYBB2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYBB2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CRYBB1 |
Zornitza Stark gene: CRYBB1 was added gene: CRYBB1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYBB1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CRYBA4 |
Zornitza Stark gene: CRYBA4 was added gene: CRYBA4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYBA4 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CRYBA1 |
Zornitza Stark gene: CRYBA1 was added gene: CRYBA1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYBA1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CRYAB |
Zornitza Stark gene: CRYAB was added gene: CRYAB was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYAB was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CRYAA |
Zornitza Stark gene: CRYAA was added gene: CRYAA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYAA was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | COL4A1 |
Zornitza Stark gene: COL4A1 was added gene: COL4A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL4A1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | COL2A1 |
Zornitza Stark gene: COL2A1 was added gene: COL2A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL2A1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | COL18A1 |
Zornitza Stark gene: COL18A1 was added gene: COL18A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL18A1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | COL11A1 |
Zornitza Stark gene: COL11A1 was added gene: COL11A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL11A1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CHMP4B |
Zornitza Stark gene: CHMP4B was added gene: CHMP4B was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHMP4B was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CD40LG |
Zornitza Stark gene: CD40LG was added gene: CD40LG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CD40LG was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | CD3G |
Zornitza Stark gene: CD3G was added gene: CD3G was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CD3G was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | BTK |
Zornitza Stark gene: BTK was added gene: BTK was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BTK was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | BFSP2 |
Zornitza Stark gene: BFSP2 was added gene: BFSP2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BFSP2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | BFSP1 |
Zornitza Stark gene: BFSP1 was added gene: BFSP1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BFSP1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | BCOR |
Zornitza Stark gene: BCOR was added gene: BCOR was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BCOR was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | B3GLCT |
Zornitza Stark gene: B3GLCT was added gene: B3GLCT was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: B3GLCT was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | ALDH18A1 |
Zornitza Stark gene: ALDH18A1 was added gene: ALDH18A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALDH18A1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | AICDA |
Zornitza Stark gene: AICDA was added gene: AICDA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AICDA was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | AGPS |
Zornitza Stark gene: AGPS was added gene: AGPS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AGPS was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | AGK |
Zornitza Stark gene: AGK was added gene: AGK was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AGK was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | ADAMTS10 |
Zornitza Stark gene: ADAMTS10 was added gene: ADAMTS10 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADAMTS10 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | ADAM17 |
Zornitza Stark gene: ADAM17 was added gene: ADAM17 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADAM17 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | ADA |
Zornitza Stark gene: ADA was added gene: ADA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADA was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||