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Anophthalmia_Microphthalmia_Coloboma v1.43 NR6A1 Bryony Thompson Marked gene: NR6A1 as ready
Anophthalmia_Microphthalmia_Coloboma v1.43 NR6A1 Bryony Thompson Gene: nr6a1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.43 NR6A1 Bryony Thompson Classified gene: NR6A1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.43 NR6A1 Bryony Thompson Gene: nr6a1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.42 NR6A1 Bryony Thompson gene: NR6A1 was added
gene: NR6A1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR6A1 were set to 39606382
Phenotypes for gene: NR6A1 were set to Craniofacial microsomia MONDO:0015397
Review for gene: NR6A1 was set to GREEN
Added comment: 6 unrelated families with heterozygous rare variants (missense, nonsense, frameshift, or large deletion) with incomplete penetrance and variable expressivity. Colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities characterised the phenotype of the families. Also, supporting zebrafish model. Loss of function is the expected mechanism of disease.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.41 ZRSR2 Zornitza Stark Phenotypes for gene: ZRSR2 were changed from Orofacialdigital syndrome MONDO:0015375, ZRSR2-related to Orofaciodigital syndrome XXI, MIM# 301132
Anophthalmia_Microphthalmia_Coloboma v1.40 ZRSR2 Zornitza Stark reviewed gene: ZRSR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XXI, MIM# 301132; Mode of inheritance: None
Anophthalmia_Microphthalmia_Coloboma v1.40 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Anophthalmia_Microphthalmia_Coloboma v1.40 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.40 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
deep intronic tags were added to gene: NHEJ1.
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHEJ1 were set to 37580330
Phenotypes for gene: NHEJ1 were set to Microphthalmia/coloboma, MIM# 13 620968
Review for gene: NHEJ1 was set to RED
Added comment: Seven individuals from 2 consanguineous families identified with a deep intronic homozygous variant affecting the IHH enhancer within NHEJ1.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.39 FZD5 Zornitza Stark Phenotypes for gene: FZD5 were changed from Coloboma (MONDO:0001476), FZD5-related to Microphthalmia/coloboma 11, MIM# 620731
Anophthalmia_Microphthalmia_Coloboma v1.38 FZD5 Zornitza Stark edited their review of gene: FZD5: Changed phenotypes: Microphthalmia/coloboma 11, MIM# 620731
Anophthalmia_Microphthalmia_Coloboma v1.38 ZRSR2 Zornitza Stark Marked gene: ZRSR2 as ready
Anophthalmia_Microphthalmia_Coloboma v1.38 ZRSR2 Zornitza Stark Gene: zrsr2 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.38 ZRSR2 Zornitza Stark Classified gene: ZRSR2 as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v1.38 ZRSR2 Zornitza Stark Gene: zrsr2 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.37 ZRSR2 Michelle Torres gene: ZRSR2 was added
gene: ZRSR2 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZRSR2 were set to 38158857
Phenotypes for gene: ZRSR2 were set to Orofacialdigital syndrome MONDO:0015375, ZRSR2-related
Review for gene: ZRSR2 was set to AMBER
Added comment: Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies.

Six unrelated families with two truncating variants and functional studies:
- p.(Gly404GlufsTer23): detected in one family with 2x affected males
- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited

Only 2x probands with microphthalmia and/or optic disc coloboma.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.37 FZD5 Elena Savva Phenotypes for gene: FZD5 were changed from Coloboma to Coloboma (MONDO:0001476), FZD5-related
Anophthalmia_Microphthalmia_Coloboma v1.36 EPHA2 Zornitza Stark Marked gene: EPHA2 as ready
Anophthalmia_Microphthalmia_Coloboma v1.36 EPHA2 Zornitza Stark Gene: epha2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.36 EPHA2 Zornitza Stark Classified gene: EPHA2 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.36 EPHA2 Zornitza Stark Gene: epha2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.35 EPHA2 Zornitza Stark gene: EPHA2 was added
gene: EPHA2 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review
Mode of inheritance for gene: EPHA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EPHA2 were set to 35918037
Phenotypes for gene: EPHA2 were set to microphthalmia, MONDO:0021129, EPHA2-related
Review for gene: EPHA2 was set to GREEN
Added comment: Variants in this gene are responsible for multiple eye phenotypes including microphthalmia, reviewed in PMID 35918037
Sources: Expert Review
Anophthalmia_Microphthalmia_Coloboma v1.34 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Anophthalmia_Microphthalmia_Coloboma v1.34 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.34 MPDZ Zornitza Stark Classified gene: MPDZ as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.34 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.33 MPDZ Zornitza Stark gene: MPDZ was added
gene: MPDZ was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDZ were set to 28556411; 36429029; 36594712
Phenotypes for gene: MPDZ were set to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219
Review for gene: MPDZ was set to GREEN
Added comment: PMID:28556411 - Three unrelated patients were reported with biallelic MPDZ variants and congenital hydrocephalus and eye/ brain anomalies. The 2.5 year-old with homozygous variant (p.Gln1490Argfs*19) had macular hypoplasia, 8 year-old boy with compound heterozygous variants (p.Arg744Ter & p.Arg1071Ter) had foveal dysplasia with thin inner retina, and 15-month old boy with homozygous variant (p.Ala1760Thr) had iris coloboma and prominent optic nerve. This 15-month old boy also had cholestasis and liver failure associated with a variant in the TJP2 gene (p.[Leu192Profs*3]).

PMID:36429029 - A Chinese proband with isolated bilateral macular coloboma was identified with compound heterozygous variants (p.Asp1434fs*3 & p.Ser1752Ter). In addition, results from in silico analysis and phenotypes observed in zebrafish knockdown model recapitulate the phenotypes observed in the proband.

PMID:36594712 - A 4 year-old proband presenting with intermittent exotropia and decreased vision in both eyes was identified with compound heterozygous variants in MPDZ gene (c.3100C>T/ p.Arg1034Ter & c.747 + 2T>G). This patient had macular colobomas and far temporal chorioretinal atrophy in both eyes. His 9 year-old older brother with the same variants had a visual acuity of 20/25 in the right eye and 20/40 in the left eye and was found to have subtle changes in the foveal reflex of both eyes.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v1.32 WNT7B Chirag Patel Classified gene: WNT7B as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.32 WNT7B Chirag Patel Gene: wnt7b has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.31 WNT7B Chirag Patel reviewed gene: WNT7B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35790350; Phenotypes: Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome, Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v1.31 ARHGAP35 Alison Yeung Marked gene: ARHGAP35 as ready
Anophthalmia_Microphthalmia_Coloboma v1.31 ARHGAP35 Alison Yeung Gene: arhgap35 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.31 ARHGAP35 Alison Yeung Classified gene: ARHGAP35 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.31 ARHGAP35 Alison Yeung Gene: arhgap35 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.30 ARHGAP35 Dean Phelan gene: ARHGAP35 was added
gene: ARHGAP35 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP35 were set to PMID: 36450800
Phenotypes for gene: ARHGAP35 were set to Developmental defect of the eye (MONDO:0020145), ARHGAP35-related
Added comment: PMID: 36450800
- ARHGAP35 variants were found in five individuals from four families with human developmental eye phenotypes. The affected individuals had anophthalmia, microphthalmia, coloboma and/or anterior segment dysgenesis disorders, together with variable non-ocular phenotypes in some families including renal, neurological, or cardiac anomalies.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.30 Zornitza Stark List of related panels changed from to Anophthalmia; HP:0000528;Microphthalmia; HP:0000568;Coloboma; HP:0000589
Anophthalmia_Microphthalmia_Coloboma v1.29 Zornitza Stark HPO terms changed from to Anophthalmia, HP:0000528;Microphthalmia, HP:0000568;Coloboma, HP:0000589
Anophthalmia_Microphthalmia_Coloboma v1.28 KIF15 Alison Yeung Marked gene: KIF15 as ready
Anophthalmia_Microphthalmia_Coloboma v1.28 KIF15 Alison Yeung Gene: kif15 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.28 KIF15 Alison Yeung Phenotypes for gene: KIF15 were changed from ?Braddock-Carey syndrome 2 - MIM#619981 to Braddock-Carey syndrome 2 - MIM#619981
Anophthalmia_Microphthalmia_Coloboma v1.27 KIF15 Alison Yeung Classified gene: KIF15 as Red List (low evidence)
Anophthalmia_Microphthalmia_Coloboma v1.27 KIF15 Alison Yeung Gene: kif15 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.26 KIF15 Krithika Murali gene: KIF15 was added
gene: KIF15 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: KIF15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF15 were set to 28150392
Phenotypes for gene: KIF15 were set to ?Braddock-Carey syndrome 2 - MIM#619981
Review for gene: KIF15 was set to AMBER
Added comment: PMID 28150392 Sleiman et al 2017 report one individual with homozygous R501* variant (NMD-predicted) from a consanguineous family. The child had thrombocytopenia, PRS, microcephaly -3SD by age 6, dysmorphic facies, bilateral external auditory canal atresia and deafness, microphthalmia, clinodactyly, short stature. Variant absent from gnomAD. Parents confirmed to be carriers and unaffected siblings were carriers/homozygous wild-type.

No other SNVs reported in ClinVar. Variant is absent from gnomAD. Authors note phenotypic similarities with Braddock-Carey syndrome (21q22 contiguous deletion also involving RUNX1).
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.26 BMP3 Zornitza Stark Marked gene: BMP3 as ready
Anophthalmia_Microphthalmia_Coloboma v1.26 BMP3 Zornitza Stark Gene: bmp3 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.26 BMP3 Seb Lunke Marked gene: BMP3 as ready
Anophthalmia_Microphthalmia_Coloboma v1.26 BMP3 Seb Lunke Gene: bmp3 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.26 BMP3 Zornitza Stark Classified gene: BMP3 as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v1.26 BMP3 Zornitza Stark Gene: bmp3 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.25 BMP3 Seb Lunke gene: BMP3 was added
gene: BMP3 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: BMP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP3 were set to 35089417
Phenotypes for gene: BMP3 were set to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129
Review for gene: BMP3 was set to AMBER
Added comment: Single missense variant identified segregating with disease following WES screen in a family with coloboma and/or microphthalmia in BMP3. Two additional unrelated patients identified with different missense in BMP3. Pathogenicity however largely on in-silicos, with one of the 3 missense having 29 hets in gnomAD.

Additional functional work in bmp3 -/- zebra fish and some supporting evidence but not conclusive.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.24 WNT7B Zornitza Stark Marked gene: WNT7B as ready
Anophthalmia_Microphthalmia_Coloboma v1.24 WNT7B Zornitza Stark Gene: wnt7b has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.24 WNT7B Zornitza Stark Classified gene: WNT7B as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v1.24 WNT7B Zornitza Stark Gene: wnt7b has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.23 WNT7B Zornitza Stark gene: WNT7B was added
gene: WNT7B was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT7B were set to 35790350
Phenotypes for gene: WNT7B were set to Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related
Review for gene: WNT7B was set to AMBER
Added comment: Three families reported with fetuses with multiple congenital anomalies and bi-allelic LoF variants. Two of the families had at the same variant. Supportive zebrafish model. Uncertain if all had anophthalmia/microphthalmia.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.22 LRP2 Zornitza Stark Publications for gene: LRP2 were set to
Anophthalmia_Microphthalmia_Coloboma v1.21 LRP2 Chirag Patel reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v1.21 CDH4 Ain Roesley Marked gene: CDH4 as ready
Anophthalmia_Microphthalmia_Coloboma v1.21 CDH4 Ain Roesley Gene: cdh4 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.21 CDH4 Ain Roesley gene: CDH4 was added
gene: CDH4 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: CDH4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH4 were set to 35034853
Phenotypes for gene: CDH4 were set to coloboma MONDO#0001476, CDH4-related
Review for gene: CDH4 was set to RED
gene: CDH4 was marked as current diagnostic
Added comment: 1x family with AD coloboma

Also presented with ID and post natal microcephaly

zebrafish KO model
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.20 PDGFRA Ain Roesley changed review comment from: 1x family with AD coloboma
Sources: Literature; to: 1x family with AD coloboma

zebrafish KO model
Anophthalmia_Microphthalmia_Coloboma v1.20 PDGFRA Ain Roesley Marked gene: PDGFRA as ready
Anophthalmia_Microphthalmia_Coloboma v1.20 PDGFRA Ain Roesley Gene: pdgfra has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.20 PDGFRA Ain Roesley edited their review of gene: PDGFRA: Changed rating: RED
Anophthalmia_Microphthalmia_Coloboma v1.20 PDGFRA Ain Roesley gene: PDGFRA was added
gene: PDGFRA was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRA were set to 35034853
Phenotypes for gene: PDGFRA were set to coloboma MONDO#0001476, PDGFRA-related
gene: PDGFRA was marked as current diagnostic
Added comment: 1x family with AD coloboma
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.19 BMPR1B Ain Roesley Marked gene: BMPR1B as ready
Anophthalmia_Microphthalmia_Coloboma v1.19 BMPR1B Ain Roesley Gene: bmpr1b has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.19 BMPR1B Ain Roesley Classified gene: BMPR1B as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.19 BMPR1B Ain Roesley Gene: bmpr1b has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.18 BMPR1B Ain Roesley edited their review of gene: BMPR1B: Changed rating: GREEN
Anophthalmia_Microphthalmia_Coloboma v1.18 BMPR1B Ain Roesley gene: BMPR1B was added
gene: BMPR1B was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR1B were set to 35034853
Phenotypes for gene: BMPR1B were set to coloboma MONDO#0001476, BMPR1B-related
gene: BMPR1B was marked as current diagnostic
Added comment: 4 unrelated families with AD coloboma
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.17 ANK3 Ain Roesley Marked gene: ANK3 as ready
Anophthalmia_Microphthalmia_Coloboma v1.17 ANK3 Ain Roesley Gene: ank3 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.17 ANK3 Ain Roesley Classified gene: ANK3 as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v1.17 ANK3 Ain Roesley Gene: ank3 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.16 ANK3 Ain Roesley gene: ANK3 was added
gene: ANK3 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: ANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANK3 were set to 35034853
Phenotypes for gene: ANK3 were set to coloboma MONDO#0001476, ANK3-related
Review for gene: ANK3 was set to AMBER
gene: ANK3 was marked as current diagnostic
Added comment: 2 unrelated families with missense - 1x de novo and 1x unknown inheritance

zebrafish KO model
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.15 GDF3 Zornitza Stark Classified gene: GDF3 as Red List (low evidence)
Anophthalmia_Microphthalmia_Coloboma v1.15 GDF3 Zornitza Stark Gene: gdf3 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.14 GDF3 Zornitza Stark changed review comment from: Please note the variants originally reported are present at a high frequency in gnomad which is not consistent with a rare Mendelian disorder.; to: The variants originally reported are present at a high frequency in gnomad which is not consistent with a rare Mendelian disorder.
Anophthalmia_Microphthalmia_Coloboma v1.14 GDF3 Zornitza Stark reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Anophthalmia_Microphthalmia_Coloboma v1.14 GDF3 Zornitza Stark Marked gene: GDF3 as ready
Anophthalmia_Microphthalmia_Coloboma v1.14 GDF3 Zornitza Stark Gene: gdf3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.14 GDF3 Chirag Patel Classified gene: GDF3 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.14 GDF3 Chirag Patel Gene: gdf3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.13 GDF3 Chirag Patel gene: GDF3 was added
gene: GDF3 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list
Mode of inheritance for gene: GDF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF3 were set to PubMed: 19864492
Phenotypes for gene: GDF3 were set to Microphthalmia with coloboma 6, OMIM #613703; Microphthalmia, isolated 7, OMIM # 613704
Review for gene: GDF3 was set to GREEN
Added comment: Ye et al. (2010) identified heterozygous missense mutations in the GDF3 gene in 3 probands with bilateral colobomatous microphthalmia.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v1.12 PACS1 Zornitza Stark Marked gene: PACS1 as ready
Anophthalmia_Microphthalmia_Coloboma v1.12 PACS1 Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.12 PACS1 Zornitza Stark Phenotypes for gene: PACS1 were changed from 615009 to Schuurs-Hoeijmakers syndrome, MIM# 615009
Anophthalmia_Microphthalmia_Coloboma v1.11 PACS1 Zornitza Stark Classified gene: PACS1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.11 PACS1 Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.10 WLS Zornitza Stark Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648
Anophthalmia_Microphthalmia_Coloboma v1.9 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v1.9 WLS Zornitza Stark Marked gene: WLS as ready
Anophthalmia_Microphthalmia_Coloboma v1.9 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.9 WLS Zornitza Stark Classified gene: WLS as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.9 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.8 WLS Teresa Zhao gene: WLS was added
gene: WLS was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WLS were set to PMID: 34587386
Phenotypes for gene: WLS were set to Syndromic structural birth defects
Review for gene: WLS was set to GREEN
Added comment: - Homozygous mutations in 10 affected persons from 5 unrelated families.
- Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects.
- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.8 PRR12 Zornitza Stark Phenotypes for gene: PRR12 were changed from Complex microphthalmia to Neuroocular syndrome, MIM#619539; Complex microphthalmia
Anophthalmia_Microphthalmia_Coloboma v1.7 PRR12 Zornitza Stark edited their review of gene: PRR12: Changed phenotypes: Neuroocular syndrome, MIM#619539, Complex microphthalmia
Anophthalmia_Microphthalmia_Coloboma v1.7 PACS1 Chris Richmond gene: PACS1 was added
gene: PACS1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PACS1 were set to 32672908
Phenotypes for gene: PACS1 were set to 615009
Penetrance for gene: PACS1 were set to Complete
Review for gene: PACS1 was set to GREEN
gene: PACS1 was marked as current diagnostic
Added comment: Multiple papers reporting patients with colobomata - well described.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.7 KIF17 Zornitza Stark Marked gene: KIF17 as ready
Anophthalmia_Microphthalmia_Coloboma v1.7 KIF17 Zornitza Stark Gene: kif17 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.7 KIF17 Zornitza Stark gene: KIF17 was added
gene: KIF17 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: KIF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF17 were set to 33922911; 30458707; 28341548
Phenotypes for gene: KIF17 were set to Microphthalmia; Coloboma
Review for gene: KIF17 was set to RED
Added comment: Two siblings reported with MAC spectrum and homozygous missense variant in this gene. Some pre-existing data linking KIF17 to eye development.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.6 CAPN15 Zornitza Stark Phenotypes for gene: CAPN15 were changed from microphthalmia HP:0000568; coloboma HP:0000589 to Oculogastrointestinal neurodevelopmental syndrome 619318; microphthalmia HP:0000568; coloboma HP:0000589
Anophthalmia_Microphthalmia_Coloboma v1.5 CAPN15 Zornitza Stark edited their review of gene: CAPN15: Changed phenotypes: Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318, microphthalmia HP:0000568, coloboma HP:0000589
Anophthalmia_Microphthalmia_Coloboma v1.5 CDON Zornitza Stark Phenotypes for gene: CDON were changed from Holoprosencephaly 11 MIM#614226 to Coloboma
Anophthalmia_Microphthalmia_Coloboma v1.4 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from Bosma arhinia microphthalmia syndrome (MIM#603457) to Bosma arhinia microphthalmia syndrome (MIM#603457); Arhinia, choanal atresia, microphthalmia MONDO:0011323
Anophthalmia_Microphthalmia_Coloboma v1.3 TOGARAM1 Zornitza Stark Phenotypes for gene: TOGARAM1 were changed from Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus to Joubert syndrome 37, MIM# 619185; Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus
Anophthalmia_Microphthalmia_Coloboma v1.2 TOGARAM1 Zornitza Stark Publications for gene: TOGARAM1 were set to 32747439
Anophthalmia_Microphthalmia_Coloboma v1.1 TOGARAM1 Zornitza Stark Classified gene: TOGARAM1 as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v1.1 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.0 TOGARAM1 Zornitza Stark edited their review of gene: TOGARAM1: Added comment: Additional family with microphthalmia as part of a ciliopathy phenotype reported in PMID 32453716.; Changed rating: AMBER; Changed publications: 32747439, 32453716
Anophthalmia_Microphthalmia_Coloboma v1.0 Zornitza Stark promoted panel to version 1.0
Anophthalmia_Microphthalmia_Coloboma v0.209 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.209 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.209 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to Brain small vessel disease with or without ocular anomalies, MIM#175780
Anophthalmia_Microphthalmia_Coloboma v0.208 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.207 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.206 COL4A1 Zornitza Stark reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24628545; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM#175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.206 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.206 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.206 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Walker-Walburg syndrome
Anophthalmia_Microphthalmia_Coloboma v0.205 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.204 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Walker-Walburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.204 OCRL Zornitza Stark Marked gene: OCRL as ready
Anophthalmia_Microphthalmia_Coloboma v0.204 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.204 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from to Lowe syndrome, MIM# 309000
Anophthalmia_Microphthalmia_Coloboma v0.203 OCRL Zornitza Stark Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.202 OCRL Zornitza Stark reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lowe syndrome, MIM# 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.202 NDP Zornitza Stark Marked gene: NDP as ready
Anophthalmia_Microphthalmia_Coloboma v0.202 NDP Zornitza Stark Gene: ndp has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.202 NDP Zornitza Stark Phenotypes for gene: NDP were changed from to Norrie disease, MIM# 310600
Anophthalmia_Microphthalmia_Coloboma v0.201 NDP Zornitza Stark Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.200 NDP Zornitza Stark reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.200 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Anophthalmia_Microphthalmia_Coloboma v0.200 NAA10 Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.200 NAA10 Zornitza Stark Tag 5'UTR tag was added to gene: NAA10.
Anophthalmia_Microphthalmia_Coloboma v0.200 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1, MIM# 309800
Anophthalmia_Microphthalmia_Coloboma v0.199 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Anophthalmia_Microphthalmia_Coloboma v0.198 NAA10 Zornitza Stark Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.197 NAA10 Zornitza Stark reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842225, 24431331; Phenotypes: Microphthalmia, syndromic 1, MIM# 309800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.197 PITX3 Zornitza Stark Marked gene: PITX3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.197 PITX3 Zornitza Stark Gene: pitx3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.197 PITX3 Zornitza Stark Phenotypes for gene: PITX3 were changed from to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia
Anophthalmia_Microphthalmia_Coloboma v0.196 PITX3 Zornitza Stark Publications for gene: PITX3 were set to
Anophthalmia_Microphthalmia_Coloboma v0.195 PITX3 Zornitza Stark Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.194 PITX3 Zornitza Stark reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29405783; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250, Cataract 11, multiple types, MIM# 610623, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.194 PRR12 Zornitza Stark Marked gene: PRR12 as ready
Anophthalmia_Microphthalmia_Coloboma v0.194 PRR12 Zornitza Stark Gene: prr12 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.194 PRR12 Zornitza Stark Phenotypes for gene: PRR12 were changed from to Complex microphthalmia
Anophthalmia_Microphthalmia_Coloboma v0.193 PRR12 Zornitza Stark Publications for gene: PRR12 were set to
Anophthalmia_Microphthalmia_Coloboma v0.192 PRR12 Zornitza Stark Mode of inheritance for gene: PRR12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.191 PRR12 Zornitza Stark reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33314030, 29556724; Phenotypes: Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.191 PRSS56 Zornitza Stark Marked gene: PRSS56 as ready
Anophthalmia_Microphthalmia_Coloboma v0.191 PRSS56 Zornitza Stark Gene: prss56 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.191 PRSS56 Zornitza Stark Phenotypes for gene: PRSS56 were changed from to Microphthalmia, isolated 6, MIM# 613517
Anophthalmia_Microphthalmia_Coloboma v0.190 PRSS56 Zornitza Stark Publications for gene: PRSS56 were set to
Anophthalmia_Microphthalmia_Coloboma v0.189 PRSS56 Zornitza Stark Mode of inheritance for gene: PRSS56 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.188 HCCS Zornitza Stark Tag SV/CNV tag was added to gene: HCCS.
Anophthalmia_Microphthalmia_Coloboma v0.188 PRSS56 Zornitza Stark reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: None; Publications: 21532570, 23127749, 31992737; Phenotypes: Microphthalmia, isolated 6, MIM# 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.188 HCCS Zornitza Stark Marked gene: HCCS as ready
Anophthalmia_Microphthalmia_Coloboma v0.188 HCCS Zornitza Stark Gene: hccs has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.188 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, MIM# 309801
Anophthalmia_Microphthalmia_Coloboma v0.187 HCCS Zornitza Stark Publications for gene: HCCS were set to
Anophthalmia_Microphthalmia_Coloboma v0.186 HCCS Zornitza Stark Mode of inheritance for gene: HCCS 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)
Anophthalmia_Microphthalmia_Coloboma v0.185 HCCS Zornitza Stark reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033964, 30068298, 24735900; Phenotypes: Linear skin defects with multiple congenital anomalies 1, MIM# 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Anophthalmia_Microphthalmia_Coloboma v0.185 GJA8 Zornitza Stark Marked gene: GJA8 as ready
Anophthalmia_Microphthalmia_Coloboma v0.185 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.185 GJA8 Zornitza Stark Phenotypes for gene: GJA8 were changed from to Cataract 1, multiple types, MIM# 116200; Microphthalmia
Anophthalmia_Microphthalmia_Coloboma v0.184 GJA8 Zornitza Stark Publications for gene: GJA8 were set to
Anophthalmia_Microphthalmia_Coloboma v0.183 GJA8 Zornitza Stark Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.182 GJA8 Zornitza Stark reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30498267, 29464339; Phenotypes: Cataract 1, multiple types, MIM# 116200, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.182 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Anophthalmia_Microphthalmia_Coloboma v0.182 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.182 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, MIM# 308300
Anophthalmia_Microphthalmia_Coloboma v0.181 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)
Anophthalmia_Microphthalmia_Coloboma v0.180 IKBKG Zornitza Stark reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Incontinentia pigmenti, MIM# 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Anophthalmia_Microphthalmia_Coloboma v0.180 MITF Zornitza Stark Publications for gene: MITF were set to
Anophthalmia_Microphthalmia_Coloboma v0.179 MITF Zornitza Stark Marked gene: MITF as ready
Anophthalmia_Microphthalmia_Coloboma v0.179 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.179 MITF Zornitza Stark Phenotypes for gene: MITF were changed from to COMMAD syndrome, MIM# 617306
Anophthalmia_Microphthalmia_Coloboma v0.178 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.177 MITF Zornitza Stark reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889061, 32541011; Phenotypes: COMMAD syndrome, MIM# 617306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.177 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.177 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.177 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200
Anophthalmia_Microphthalmia_Coloboma v0.176 GJA1 Zornitza Stark Publications for gene: GJA1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.175 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.174 GJA1 Zornitza Stark reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19338053; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850, Oculodentodigital dysplasia, MIM# 164200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.174 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.174 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.174 FOXE3 Zornitza Stark Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Anophthalmia_Microphthalmia_Coloboma v0.173 FOXE3 Zornitza Stark Publications for gene: FOXE3 were set to
Anophthalmia_Microphthalmia_Coloboma v0.172 FOXE3 Zornitza Stark Mode of inheritance for gene: FOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.171 FOXE3 Zornitza Stark reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27218149, 21150893, 31884615, 29878917, 29713869; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.171 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Anophthalmia_Microphthalmia_Coloboma v0.171 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.171 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM# 113620
Anophthalmia_Microphthalmia_Coloboma v0.170 TFAP2A Zornitza Stark Publications for gene: TFAP2A were set to
Anophthalmia_Microphthalmia_Coloboma v0.169 TFAP2A Zornitza Stark Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.168 TFAP2A Zornitza Stark reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19206157, 19685247, 20358615, 32766183, 24783654; Phenotypes: Branchiooculofacial syndrome, MIM# 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.168 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Anophthalmia_Microphthalmia_Coloboma v0.168 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.168 TBC1D20 Zornitza Stark Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM# 615663
Anophthalmia_Microphthalmia_Coloboma v0.167 TBC1D20 Zornitza Stark Publications for gene: TBC1D20 were set to
Anophthalmia_Microphthalmia_Coloboma v0.166 TBC1D20 Zornitza Stark Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.165 TBC1D20 Zornitza Stark reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, MIM# 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.165 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.165 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.165 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.165 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.164 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5RAP2 were set to 32015000
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804
Review for gene: CDK5RAP2 was set to GREEN
Added comment: Microphthalmia is a feature.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.163 FZD5 Zornitza Stark Marked gene: FZD5 as ready
Anophthalmia_Microphthalmia_Coloboma v0.163 FZD5 Zornitza Stark Gene: fzd5 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.163 FZD5 Zornitza Stark Classified gene: FZD5 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.163 FZD5 Zornitza Stark Gene: fzd5 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.162 FZD5 Zornitza Stark gene: FZD5 was added
gene: FZD5 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD5 were set to 32737437; 26908622
Phenotypes for gene: FZD5 were set to Coloboma
Review for gene: FZD5 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.161 FAM111A Zornitza Stark Marked gene: FAM111A as ready
Anophthalmia_Microphthalmia_Coloboma v0.161 FAM111A Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.161 FAM111A Zornitza Stark Classified gene: FAM111A as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.161 FAM111A Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.160 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM111A were set to 32996714; 23684011
Phenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM@ 127000
Review for gene: FAM111A was set to GREEN
Added comment: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.159 STRA6 Zornitza Stark Marked gene: STRA6 as ready
Anophthalmia_Microphthalmia_Coloboma v0.159 STRA6 Zornitza Stark Gene: stra6 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.159 STRA6 Zornitza Stark Phenotypes for gene: STRA6 were changed from to Microphthalmia, isolated, with coloboma 8, MIM# 601186; Microphthalmia, syndromic 9, MIM# 601186
Anophthalmia_Microphthalmia_Coloboma v0.158 STRA6 Zornitza Stark Publications for gene: STRA6 were set to
Anophthalmia_Microphthalmia_Coloboma v0.157 STRA6 Zornitza Stark Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.156 STRA6 Zornitza Stark reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163; Phenotypes: Microphthalmia, isolated, with coloboma 8, MIM# 601186, Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.156 SOX2 Zornitza Stark Marked gene: SOX2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.156 SOX2 Zornitza Stark Gene: sox2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.156 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Anophthalmia_Microphthalmia_Coloboma v0.155 SOX2 Zornitza Stark Publications for gene: SOX2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.154 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.153 SOX2 Zornitza Stark reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450772, 28121235, 25542770, 24498598, 24211324, 24033328, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900, Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.153 SIX6 Zornitza Stark Marked gene: SIX6 as ready
Anophthalmia_Microphthalmia_Coloboma v0.153 SIX6 Zornitza Stark Gene: six6 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.153 SIX6 Zornitza Stark Phenotypes for gene: SIX6 were changed from to Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550
Anophthalmia_Microphthalmia_Coloboma v0.152 SIX6 Zornitza Stark Publications for gene: SIX6 were set to
Anophthalmia_Microphthalmia_Coloboma v0.151 SIX6 Zornitza Stark Mode of inheritance for gene: SIX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.150 SIX6 Zornitza Stark reviewed gene: SIX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23167593, 24702266, 33108933, 31207931, 24702266; Phenotypes: Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.150 SIX3 Zornitza Stark Marked gene: SIX3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.150 SIX3 Zornitza Stark Gene: six3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.150 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, MIM# 157170
Anophthalmia_Microphthalmia_Coloboma v0.149 SIX3 Zornitza Stark Publications for gene: SIX3 were set to
Anophthalmia_Microphthalmia_Coloboma v0.148 SIX3 Zornitza Stark Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.147 SIX3 Zornitza Stark reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976454; Phenotypes: Holoprosencephaly 2, MIM# 157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.147 SHH Zornitza Stark Marked gene: SHH as ready
Anophthalmia_Microphthalmia_Coloboma v0.147 SHH Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.147 SHH Zornitza Stark Phenotypes for gene: SHH were changed from to Microphthalmia with coloboma 5, MIM# 611638; Holoprosencephaly 3, MIM# 142945
Anophthalmia_Microphthalmia_Coloboma v0.146 SHH Zornitza Stark Publications for gene: SHH were set to
Anophthalmia_Microphthalmia_Coloboma v0.145 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.144 SHH Zornitza Stark reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976454, 12503095; Phenotypes: Microphthalmia with coloboma 5, MIM# 611638, Holoprosencephaly 3, MIM# 142945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.144 RERE Zornitza Stark Marked gene: RERE as ready
Anophthalmia_Microphthalmia_Coloboma v0.144 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.144 RERE Zornitza Stark Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Anophthalmia_Microphthalmia_Coloboma v0.143 RERE Zornitza Stark Publications for gene: RERE were set to
Anophthalmia_Microphthalmia_Coloboma v0.142 RERE Zornitza Stark Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.141 RERE Zornitza Stark reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.141 ABCB6 Zornitza Stark Marked gene: ABCB6 as ready
Anophthalmia_Microphthalmia_Coloboma v0.141 ABCB6 Zornitza Stark Gene: abcb6 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.141 RAX Zornitza Stark Marked gene: RAX as ready
Anophthalmia_Microphthalmia_Coloboma v0.141 RAX Zornitza Stark Gene: rax has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.141 RAX Zornitza Stark Phenotypes for gene: RAX were changed from to Microphthalmia, isolated 3, MIM# 611038
Anophthalmia_Microphthalmia_Coloboma v0.140 RAX Zornitza Stark Publications for gene: RAX were set to
Anophthalmia_Microphthalmia_Coloboma v0.139 RAX Zornitza Stark Mode of inheritance for gene: RAX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.138 RAX Zornitza Stark reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14662654, 18783408, 30811539, 24033328, 22524605; Phenotypes: Microphthalmia, isolated 3, MIM# 611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.138 RARA Zornitza Stark Marked gene: RARA as ready
Anophthalmia_Microphthalmia_Coloboma v0.138 RARA Zornitza Stark Gene: rara has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.138 RARA Zornitza Stark gene: RARA was added
gene: RARA was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: RARA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RARA were set to 31343737
Phenotypes for gene: RARA were set to Syndromic chorioretinal coloboma
Review for gene: RARA was set to RED
Added comment: Single case report of de novo missense variant in association with syndromic coloboma.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.137 RARB Zornitza Stark Marked gene: RARB as ready
Anophthalmia_Microphthalmia_Coloboma v0.137 RARB Zornitza Stark Gene: rarb has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.137 RARB Zornitza Stark Phenotypes for gene: RARB were changed from to Microphthalmia, syndromic 12, MIM# 615524
Anophthalmia_Microphthalmia_Coloboma v0.136 RARB Zornitza Stark Publications for gene: RARB were set to
Anophthalmia_Microphthalmia_Coloboma v0.135 RARB Zornitza Stark Mode of pathogenicity for gene: RARB was changed from to Other
Anophthalmia_Microphthalmia_Coloboma v0.134 RARB Zornitza Stark Mode of inheritance for gene: RARB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.133 RARB Zornitza Stark reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30880327, 30281527, 24075189, 27120018, 25457163, 17506106; Phenotypes: Microphthalmia, syndromic 12, MIM# 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.133 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.133 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.133 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Warburg micro syndrome 2, MIM# 614225
Anophthalmia_Microphthalmia_Coloboma v0.132 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.131 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.130 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.130 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.130 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.130 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM# 600118
Anophthalmia_Microphthalmia_Coloboma v0.129 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.128 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.127 RAB3GAP1 Zornitza Stark changed review comment from: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. Multiple families reported.; to: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.
Anophthalmia_Microphthalmia_Coloboma v0.127 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520; Phenotypes: Warburg micro syndrome 1, MIM# 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.127 PXDN Zornitza Stark Marked gene: PXDN as ready
Anophthalmia_Microphthalmia_Coloboma v0.127 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.127 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Anophthalmia_Microphthalmia_Coloboma v0.126 PXDN Zornitza Stark Publications for gene: PXDN were set to
Anophthalmia_Microphthalmia_Coloboma v0.125 PXDN Zornitza Stark Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.124 PXDN Zornitza Stark reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907015, 24939590, 32499604, 32224865, 32015378, 31817535; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.124 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Anophthalmia_Microphthalmia_Coloboma v0.124 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.124 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from to Microphthalmia; Coloboma, ocular, MIM# 120200
Anophthalmia_Microphthalmia_Coloboma v0.123 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Anophthalmia_Microphthalmia_Coloboma v0.122 PAX6 Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.121 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31700164, 30986449, 29930474, 22171686; Phenotypes: Microphthalmia, Coloboma, ocular, MIM# 120200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.121 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.121 PAX2 Zornitza Stark Gene: pax2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.121 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352
Anophthalmia_Microphthalmia_Coloboma v0.120 PAX2 Zornitza Stark Publications for gene: PAX2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.119 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.118 PAX2 Zornitza Stark reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654726; Phenotypes: Papillorenal syndrome, MIM# 120330, Renal coloboma syndrome, MONDO:0007352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.118 SMOC1 Zornitza Stark Marked gene: SMOC1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.118 SMOC1 Zornitza Stark Gene: smoc1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.118 SMOC1 Zornitza Stark Phenotypes for gene: SMOC1 were changed from to Microphthalmia with limb anomalies, MIM# 206920
Anophthalmia_Microphthalmia_Coloboma v0.117 SMOC1 Zornitza Stark Publications for gene: SMOC1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.116 SMOC1 Zornitza Stark Mode of inheritance for gene: SMOC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.115 SMOC1 Zornitza Stark reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, MIM# 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.115 NHS Zornitza Stark Marked gene: NHS as ready
Anophthalmia_Microphthalmia_Coloboma v0.115 NHS Zornitza Stark Gene: nhs has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.115 NHS Zornitza Stark Phenotypes for gene: NHS were changed from to Nance-Horan syndrome, MIM# 302350
Anophthalmia_Microphthalmia_Coloboma v0.114 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)
Anophthalmia_Microphthalmia_Coloboma v0.113 NHS Zornitza Stark reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nance-Horan syndrome, MIM# 302350; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Anophthalmia_Microphthalmia_Coloboma v0.113 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.113 HESX1 Zornitza Stark Gene: hesx1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.113 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from to Septooptic dysplasia, MIM# 182230
Anophthalmia_Microphthalmia_Coloboma v0.112 HESX1 Zornitza Stark Publications for gene: HESX1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.111 HESX1 Zornitza Stark Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.110 HESX1 Zornitza Stark Classified gene: HESX1 as Red List (low evidence)
Anophthalmia_Microphthalmia_Coloboma v0.110 HESX1 Zornitza Stark Gene: hesx1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.109 HESX1 Zornitza Stark reviewed gene: HESX1: Rating: RED; Mode of pathogenicity: None; Publications: 11136712; Phenotypes: Septooptic dysplasia, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.109 MFRP Zornitza Stark Marked gene: MFRP as ready
Anophthalmia_Microphthalmia_Coloboma v0.109 MFRP Zornitza Stark Gene: mfrp has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.109 MFRP Zornitza Stark Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040
Anophthalmia_Microphthalmia_Coloboma v0.108 MFRP Zornitza Stark Publications for gene: MFRP were set to
Anophthalmia_Microphthalmia_Coloboma v0.107 MFRP Zornitza Stark Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.106 MFRP Zornitza Stark reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17167404, 18554571, 20361016; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.106 MAB21L2 Zornitza Stark changed review comment from: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Two individuals with the c.151C > T (p.Arg51Cys) variant also had ID.

One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.

Three different animal models support gene-disease association.; to: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID.

One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.

Three different animal models support gene-disease association.
Anophthalmia_Microphthalmia_Coloboma v0.106 MAB21L2 Zornitza Stark Marked gene: MAB21L2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.106 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.106 MAB21L2 Zornitza Stark Phenotypes for gene: MAB21L2 were changed from to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877
Anophthalmia_Microphthalmia_Coloboma v0.105 MAB21L2 Zornitza Stark Publications for gene: MAB21L2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.104 MAB21L2 Zornitza Stark Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.103 MAB21L2 Zornitza Stark reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.103 SMCHD1 Zornitza Stark Marked gene: SMCHD1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.103 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.103 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome (MIM#603457)
Anophthalmia_Microphthalmia_Coloboma v0.102 SMCHD1 Zornitza Stark Publications for gene: SMCHD1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.101 SMCHD1 Zornitza Stark Mode of pathogenicity for gene: SMCHD1 was changed from to Other
Anophthalmia_Microphthalmia_Coloboma v0.100 SMCHD1 Zornitza Stark Mode of inheritance for gene: SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.99 RBP4 Zornitza Stark Marked gene: RBP4 as ready
Anophthalmia_Microphthalmia_Coloboma v0.99 RBP4 Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.99 VAX1 Zornitza Stark Marked gene: VAX1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.99 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.99 VAX1 Zornitza Stark Phenotypes for gene: VAX1 were changed from to Microphthalmia, syndromic 11, MIM# 614402
Anophthalmia_Microphthalmia_Coloboma v0.98 VAX1 Zornitza Stark Publications for gene: VAX1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.97 VAX1 Zornitza Stark Mode of inheritance for gene: VAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.96 VAX1 Zornitza Stark Classified gene: VAX1 as Red List (low evidence)
Anophthalmia_Microphthalmia_Coloboma v0.96 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.95 VAX1 Zornitza Stark reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: None; Publications: 22095910; Phenotypes: Microphthalmia, syndromic 11, MIM# 614402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.95 VSX2 Zornitza Stark Marked gene: VSX2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.95 VSX2 Zornitza Stark Gene: vsx2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.95 VSX2 Zornitza Stark Phenotypes for gene: VSX2 were changed from to Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093
Anophthalmia_Microphthalmia_Coloboma v0.94 VSX2 Zornitza Stark Publications for gene: VSX2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.93 VSX2 Zornitza Stark Mode of inheritance for gene: VSX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.92 VSX2 Zornitza Stark reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15257456, 17661825, 31884615, 28121235, 27301076, 24033328; Phenotypes: Microphthalmia with coloboma 3, MIM# 610092, Microphthalmia, isolated 2, MIM# 610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.92 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Anophthalmia_Microphthalmia_Coloboma v0.92 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.92 WDR37 Zornitza Stark Phenotypes for gene: WDR37 were changed from to Neurooculocardiogenitourinary syndrome, MIM# 618652
Anophthalmia_Microphthalmia_Coloboma v0.91 WDR37 Zornitza Stark Publications for gene: WDR37 were set to
Anophthalmia_Microphthalmia_Coloboma v0.90 WDR37 Zornitza Stark Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.89 WDR37 Zornitza Stark reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: None; Publications: 31327508, 31327508; Phenotypes: Neurooculocardiogenitourinary syndrome, MIM# 618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.89 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Anophthalmia_Microphthalmia_Coloboma v0.89 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.89 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from to CHARGE syndrome, MIM# 214800
Anophthalmia_Microphthalmia_Coloboma v0.88 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.87 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.87 BMP4 Zornitza Stark Marked gene: BMP4 as ready
Anophthalmia_Microphthalmia_Coloboma v0.87 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.87 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from to Microphthalmia, syndromic 6, MIM# 607932
Anophthalmia_Microphthalmia_Coloboma v0.86 BMP4 Zornitza Stark Publications for gene: BMP4 were set to
Anophthalmia_Microphthalmia_Coloboma v0.85 BMP4 Zornitza Stark Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.84 BMP4 Zornitza Stark reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21340693, 31053785; Phenotypes: Microphthalmia, syndromic 6, MIM# 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.84 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.84 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.84 ASXL1 Zornitza Stark Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome , MIM#605039
Anophthalmia_Microphthalmia_Coloboma v0.83 ASXL1 Zornitza Stark Publications for gene: ASXL1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.82 ASXL1 Zornitza Stark Mode of inheritance for gene: ASXL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.81 ASXL1 Zornitza Stark reviewed gene: ASXL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29446906; Phenotypes: Bohring-Opitz syndrome , MIM#605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.81 ALDH1A3 Zornitza Stark Marked gene: ALDH1A3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.81 ALDH1A3 Zornitza Stark Gene: aldh1a3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.81 ALDH1A3 Zornitza Stark Phenotypes for gene: ALDH1A3 were changed from to Microphthalmia, isolated 8, MIM# 615113
Anophthalmia_Microphthalmia_Coloboma v0.80 ALDH1A3 Zornitza Stark Publications for gene: ALDH1A3 were set to
Anophthalmia_Microphthalmia_Coloboma v0.79 ALDH1A3 Zornitza Stark Mode of inheritance for gene: ALDH1A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.79 ALDH1A3 Zornitza Stark Mode of inheritance for gene: ALDH1A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.78 ALDH1A3 Zornitza Stark reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23312594, 23591992, 30200890, 28890889, 26873617, 24777706; Phenotypes: Microphthalmia, isolated 8, MIM# 615113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.78 C16orf62 Zornitza Stark Phenotypes for gene: C16orf62 were changed from 3C/Ritscher-Schinzel-like syndrome to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Anophthalmia_Microphthalmia_Coloboma v0.77 C16orf62 Zornitza Stark edited their review of gene: C16orf62: Changed phenotypes: Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Anophthalmia_Microphthalmia_Coloboma v0.77 PIGL Zornitza Stark Marked gene: PIGL as ready
Anophthalmia_Microphthalmia_Coloboma v0.77 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.77 PIGL Zornitza Stark Classified gene: PIGL as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.77 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.76 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review
SV/CNV, founder tags were added to gene: PIGL.
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGL were set to 22444671; 31535386; 30023290; 29473937; 28371479; 25706356
Phenotypes for gene: PIGL were set to CHIME syndrome, MIM# 280000, MONDO:0010221
Review for gene: PIGL was set to GREEN
Added comment: Bi-allelic variants in PIGL have been associated with a multisystem disorder clinically characterised by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. Some individuals have hyperphosphatasia. p.Leu167Pro is a common founder variant. Also note large deletion reported more than once. More than 10 unrelated families reported.
Sources: Expert Review
Anophthalmia_Microphthalmia_Coloboma v0.75 CDON Zornitza Stark Marked gene: CDON as ready
Anophthalmia_Microphthalmia_Coloboma v0.75 CDON Zornitza Stark Gene: cdon has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.75 CDON Zornitza Stark Classified gene: CDON as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v0.75 CDON Zornitza Stark Gene: cdon has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.74 CDON Elena Savva gene: CDON was added
gene: CDON was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: CDON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDON were set to PMID: 32729136
Phenotypes for gene: CDON were set to Holoprosencephaly 11 MIM#614226
Review for gene: CDON was set to AMBER
Added comment: Isolated example of chet (both splice) siblings with isolated coloboma. Parents were normal.
Supported by mouse model.
Reviews a hom patient (PTC) in another case also with retinal coloboma, dev delay, dysmorphic features and an additional hom MAPRE2 variant (gene has not be associated to coloboma)
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.74 RPGRIP1L Zornitza Stark Classified gene: RPGRIP1L as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v0.74 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.73 RPGRIP1L Zornitza Stark changed review comment from: Coloboma is part of the phenotype.
Sources: Expert list; to: Coloboma is part of the phenotype, however, only a single individual with the COACH phenotype has been reported to date. Well established ciliopathy gene.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.73 RPGRIP1L Zornitza Stark edited their review of gene: RPGRIP1L: Changed rating: AMBER; Changed phenotypes: COACH syndrome 3, MIM# 619113
Anophthalmia_Microphthalmia_Coloboma v0.73 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from COACH syndrome, MIM#216360 to COACH syndrome 2, MIM# 619111
Anophthalmia_Microphthalmia_Coloboma v0.72 CC2D2A Zornitza Stark edited their review of gene: CC2D2A: Changed phenotypes: COACH syndrome 2, MIM# 619111
Anophthalmia_Microphthalmia_Coloboma v0.72 CAPN15 Zornitza Stark Marked gene: CAPN15 as ready
Anophthalmia_Microphthalmia_Coloboma v0.72 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.72 CAPN15 Zornitza Stark Classified gene: CAPN15 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.72 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.71 CAPN15 Zornitza Stark gene: CAPN15 was added
gene: CAPN15 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589
Review for gene: CAPN15 was set to GREEN
Added comment: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.69 C16orf62 Zornitza Stark Tag new gene name tag was added to gene: C16orf62.
Anophthalmia_Microphthalmia_Coloboma v0.69 RAB18 Zornitza Stark Tag founder tag was added to gene: RAB18.
Anophthalmia_Microphthalmia_Coloboma v0.69 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Anophthalmia_Microphthalmia_Coloboma v0.69 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.69 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Anophthalmia_Microphthalmia_Coloboma v0.68 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Anophthalmia_Microphthalmia_Coloboma v0.67 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.66 RAB18 Zornitza Stark reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.66 TOGARAM1 Zornitza Stark Marked gene: TOGARAM1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.66 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.66 TOGARAM1 Zornitza Stark gene: TOGARAM1 was added
gene: TOGARAM1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439
Phenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus
Review for gene: TOGARAM1 was set to RED
Added comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.65 BCOR Zornitza Stark Marked gene: BCOR as ready
Anophthalmia_Microphthalmia_Coloboma v0.65 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.65 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Anophthalmia_Microphthalmia_Coloboma v0.64 BCOR Zornitza Stark Publications for gene: BCOR were set to
Anophthalmia_Microphthalmia_Coloboma v0.63 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)
Anophthalmia_Microphthalmia_Coloboma v0.62 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Anophthalmia_Microphthalmia_Coloboma v0.62 OTX2 Zornitza Stark Marked gene: OTX2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.62 OTX2 Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.62 OTX2 Zornitza Stark Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5, MIM# 610125
Anophthalmia_Microphthalmia_Coloboma v0.61 OTX2 Zornitza Stark Publications for gene: OTX2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.60 OTX2 Zornitza Stark Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.59 OTX2 Zornitza Stark reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24859618; Phenotypes: Microphthalmia, syndromic 5, MIM# 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.59 SMCHD1 Crystle Lee reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28067911, 31243061; Phenotypes: Bosma arhinia microphthalmia syndrome (MIM#603457); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Anophthalmia_Microphthalmia_Coloboma v0.59 FBXW11 Zornitza Stark Phenotypes for gene: FBXW11 were changed from Intellectual disability; developmental eye anomalies; digital anomalies to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Intellectual disability; developmental eye anomalies; digital anomalies
Anophthalmia_Microphthalmia_Coloboma v0.58 FBXW11 Zornitza Stark reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.58 C16orf62 Zornitza Stark Marked gene: C16orf62 as ready
Anophthalmia_Microphthalmia_Coloboma v0.58 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.58 C16orf62 Zornitza Stark Classified gene: C16orf62 as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v0.58 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.57 C16orf62 Zornitza Stark gene: C16orf62 was added
gene: C16orf62 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 25434475; 31712251
Phenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome
Review for gene: C16orf62 was set to AMBER
Added comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251).
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.56 SMO Zornitza Stark Tag somatic tag was added to gene: SMO.
Anophthalmia_Microphthalmia_Coloboma v0.56 FAT1 Zornitza Stark Marked gene: FAT1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.56 FAT1 Zornitza Stark Gene: fat1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.56 FAT1 Zornitza Stark Classified gene: FAT1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.56 FAT1 Zornitza Stark Gene: fat1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.55 FAT1 Zornitza Stark gene: FAT1 was added
gene: FAT1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review
Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT1 were set to 30862798; 26905694
Phenotypes for gene: FAT1 were set to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
Review for gene: FAT1 was set to GREEN
Added comment: 5 families reported with eye abnormalities in addition to the renal phenotype.
Sources: Expert Review
Anophthalmia_Microphthalmia_Coloboma v0.54 TMEM98 Bryony Thompson Marked gene: TMEM98 as ready
Anophthalmia_Microphthalmia_Coloboma v0.54 TMEM98 Bryony Thompson Gene: tmem98 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.54 TMEM98 Bryony Thompson Classified gene: TMEM98 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.54 TMEM98 Bryony Thompson Gene: tmem98 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.53 TMEM98 Bryony Thompson gene: TMEM98 was added
gene: TMEM98 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list
Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM98 were set to 24852644; 26392740
Phenotypes for gene: TMEM98 were set to Nanophthalmos 4 MIM#615972
Review for gene: TMEM98 was set to GREEN
Added comment: At least three large multi-generational unrelated families reported to segregate heterozygous variants. Nanophthalmos is a rare form of microphthalmia.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.52 RBP4 Bryony Thompson Classified gene: RBP4 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.52 RBP4 Bryony Thompson Gene: rbp4 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.51 RBP4 Bryony Thompson gene: RBP4 was added
gene: RBP4 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RBP4 were set to 25910211; 29178648
Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10 MIM#616428
Review for gene: RBP4 was set to GREEN
Added comment: At least 3 unrelated microphthalmia, anophthalmia and coloboma families and supporting functional assays. Study established an uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.50 ABCB6 Bryony Thompson gene: ABCB6 was added
gene: ABCB6 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCB6 were set to 22226084; 24281366
Phenotypes for gene: ABCB6 were set to Microphthalmia, isolated, with coloboma 7 MIM#614497
Review for gene: ABCB6 was set to RED
Added comment: Segregation of a missense variant reported in a single Chinese family. Morpholino knockdown of abcb6 in zebrafish produces a phenotype characteristic of coloboma. The missenses p.Ala57Thr and p.Arg192Gln reported in cases with coloboma are too common in gnomAD for a dominant condition. No convincing evidence reported since the 2012 publication.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.49 YAP1 Zornitza Stark Publications for gene: YAP1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.48 YAP1 Zornitza Stark edited their review of gene: YAP1: Added comment: Four families reported; incomplete penetrance and variable expressivity.; Changed publications: 24462371, 27267789, 28801591
Anophthalmia_Microphthalmia_Coloboma v0.48 MYRF Zornitza Stark Marked gene: MYRF as ready
Anophthalmia_Microphthalmia_Coloboma v0.48 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.48 MYRF Zornitza Stark Classified gene: MYRF as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.48 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.47 MYRF Zornitza Stark gene: MYRF was added
gene: MYRF was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to 31048900; 31172260; 31266062; 31700225
Phenotypes for gene: MYRF were set to Nanophthalmos; High hyperopia
Review for gene: MYRF was set to GREEN
Added comment: Multiple families reported.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.46 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.46 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Marked gene: FBXW11 as ready
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.43 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
Added comment: Reported in > 3 unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.43 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
Added comment: Reported in > 3 unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.43 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
Added comment: Reported in >unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.42 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.42 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.42 MAB21L1 Sue White Classified gene: MAB21L1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.42 MAB21L1 Sue White Gene: mab21l1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.41 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.40 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Anophthalmia_Microphthalmia_Coloboma v0.39 Zornitza Stark Panel name changed from Anophthalmia, microphthalmia, coloboma_VCGS to Anophthalmia_Microphthalmia_Coloboma
Panel types changed to Victorian Clinical Genetics Services
Anophthalmia_Microphthalmia_Coloboma v0.38 Zornitza Stark removed gene:TEMN3-AS1 from the panel
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Marked gene: TEMN3-AS1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Gene: temn3-as1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Classified gene: TEMN3-AS1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Gene: temn3-as1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.36 TEMN3-AS1 Zornitza Stark gene: TEMN3-AS1 was added
gene: TEMN3-AS1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: TEMN3-AS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEMN3-AS1 were set to 27103084; 30513139; 30513139; 22766609
Phenotypes for gene: TEMN3-AS1 were set to Microphthalmia, isolated, with coloboma 9, OMIM #615145; Microphthalmia, syndromic 15, OMIM #615145
Review for gene: TEMN3-AS1 was set to GREEN
Added comment: Three families with syndromic microphthalmia and one family with non-syndromic microphthalmia reported.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.35 SALL2 Zornitza Stark Marked gene: SALL2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.35 SALL2 Zornitza Stark Gene: sall2 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.35 SALL2 Zornitza Stark gene: SALL2 was added
gene: SALL2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Other
Mode of inheritance for gene: SALL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SALL2 were set to 24412933
Phenotypes for gene: SALL2 were set to Coloboma, ocular, autosomal recessive, MIM#16820
Review for gene: SALL2 was set to RED
Added comment: Single family reported, supportive functional data.
Sources: Other
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Tag somatic tag was added to gene: RHOA.
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Marked gene: RHOA as ready
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Gene: rhoa has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Classified gene: RHOA as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.34 RHOA Zornitza Stark Gene: rhoa has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.33 RHOA Zornitza Stark Classified gene: RHOA as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.33 RHOA Zornitza Stark Gene: rhoa has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.32 RHOA Sue White gene: RHOA was added
gene: RHOA was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Literature
Mode of inheritance for gene: RHOA was set to Other
Publications for gene: RHOA were set to 31570889
Phenotypes for gene: RHOA were set to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia
Penetrance for gene: RHOA were set to Complete
Review for gene: RHOA was set to GREEN
gene: RHOA was marked as current diagnostic
Added comment: mosaic heterozygous variants causing dysmorphism, brain MRI changes, normal cognition, eye and acral anomalies
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.31 YAP1 Zornitza Stark Marked gene: YAP1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.31 YAP1 Zornitza Stark Gene: yap1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.31 YAP1 Zornitza Stark Classified gene: YAP1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.31 YAP1 Zornitza Stark Gene: yap1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.30 YAP1 Zornitza Stark gene: YAP1 was added
gene: YAP1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: YAP1 were set to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433
Review for gene: YAP1 was set to GREEN
Added comment: Coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.29 SMO Zornitza Stark Marked gene: SMO as ready
Anophthalmia_Microphthalmia_Coloboma v0.29 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.29 SMO Zornitza Stark Classified gene: SMO as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.29 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.28 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: SMO was set to Other
Phenotypes for gene: SMO were set to Curry-Jones syndrome, somatic mosaic, MIM#601707
Review for gene: SMO was set to GREEN
Added comment: Microphthalmia and coloboma are part of the phenotype of this somatic mosaic condition.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.27 SALL4 Zornitza Stark Marked gene: SALL4 as ready
Anophthalmia_Microphthalmia_Coloboma v0.27 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.27 SALL4 Zornitza Stark Classified gene: SALL4 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.27 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.26 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL4 were set to Duane-radial ray syndrome, MIM#607323
Review for gene: SALL4 was set to GREEN
Added comment: Microphthalmia and coloboma are part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.25 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Anophthalmia_Microphthalmia_Coloboma v0.25 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.25 RPGRIP1L Zornitza Stark Classified gene: RPGRIP1L as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.25 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.24 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to COACH syndrome, MIM#216360
Review for gene: RPGRIP1L was set to GREEN
Added comment: Coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.23 PUF60 Zornitza Stark Marked gene: PUF60 as ready
Anophthalmia_Microphthalmia_Coloboma v0.23 PUF60 Zornitza Stark Gene: puf60 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.23 PUF60 Zornitza Stark Classified gene: PUF60 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.23 PUF60 Zornitza Stark Gene: puf60 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.22 PUF60 Zornitza Stark gene: PUF60 was added
gene: PUF60 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PUF60 were set to Verheij syndrome, MIM#615583
Review for gene: PUF60 was set to GREEN
Added comment: Coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.21 PORCN Zornitza Stark Marked gene: PORCN as ready
Anophthalmia_Microphthalmia_Coloboma v0.21 PORCN Zornitza Stark Gene: porcn has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.21 PORCN Zornitza Stark Classified gene: PORCN as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.21 PORCN Zornitza Stark Gene: porcn has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.20 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: PORCN was set to Other
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia, MIM#305600
Review for gene: PORCN was set to GREEN
Added comment: Anophthalmia, microphthalmia and coloboma are part of the phenotype of this XLD condition.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.19 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.19 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.19 LRP2 Zornitza Stark Classified gene: LRP2 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.19 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.18 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448
Review for gene: LRP2 was set to GREEN
Added comment: Iris coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.17 HMX1 Zornitza Stark Marked gene: HMX1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.17 HMX1 Zornitza Stark Gene: hmx1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.17 HMX1 Zornitza Stark Classified gene: HMX1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.17 HMX1 Zornitza Stark Gene: hmx1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.16 HMX1 Zornitza Stark gene: HMX1 was added
gene: HMX1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMX1 were set to Oculoauricular syndrome, MIM#612109
Review for gene: HMX1 was set to GREEN
Added comment: Microphthalmia and ocular coloboma are part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.15 CLDN19 Zornitza Stark Marked gene: CLDN19 as ready
Anophthalmia_Microphthalmia_Coloboma v0.15 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.15 CLDN19 Zornitza Stark Classified gene: CLDN19 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.15 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.14 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, MIM#248190
Review for gene: CLDN19 was set to GREEN
Added comment: Macular coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.13 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Anophthalmia_Microphthalmia_Coloboma v0.13 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.13 CC2D2A Zornitza Stark Classified gene: CC2D2A as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.13 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.12 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to COACH syndrome, MIM#216360
Review for gene: CC2D2A was set to GREEN
Added comment: Ocular coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.11 C12orf57 Zornitza Stark Marked gene: C12orf57 as ready
Anophthalmia_Microphthalmia_Coloboma v0.11 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.11 C12orf57 Zornitza Stark Classified gene: C12orf57 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.11 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.10 C12orf57 Zornitza Stark gene: C12orf57 was added
gene: C12orf57 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf57 were set to Temtamy syndrome, MIM#218340
Review for gene: C12orf57 was set to GREEN
Added comment: Ocular coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.9 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Anophthalmia_Microphthalmia_Coloboma v0.9 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.9 B3GLCT Zornitza Stark Classified gene: B3GLCT as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.9 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.8 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome, MIM#261540
Review for gene: B3GLCT was set to GREEN
Added comment: Retinal coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.7 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.7 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.7 ACTG1 Zornitza Stark Classified gene: ACTG1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.7 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.6 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome 2, MIM#614583
Review for gene: ACTG1 was set to GREEN
Added comment: Microphthalmia and coloboma are part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.5 ACTB Zornitza Stark Marked gene: ACTB as ready
Anophthalmia_Microphthalmia_Coloboma v0.5 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.5 ACTB Zornitza Stark Classified gene: ACTB as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.5 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.4 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, MIM#243310
Review for gene: ACTB was set to GREEN
Added comment: Iris coloboma is part of the phenotype.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.3 TENM3 Zornitza Stark Marked gene: TENM3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.3 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.3 TENM3 Zornitza Stark Classified gene: TENM3 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.3 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.2 TENM3 Zornitza Stark gene: TENM3 was added
gene: TENM3 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Literature
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TENM3 were set to 30513139; 22766609; 27103084; 29753094
Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM#615145; coloboma
Review for gene: TENM3 was set to GREEN
Added comment: At least four unrelated families described with syndromic microphthalmia and bi-allelic variants in this gene.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.1 TENM1 Zornitza Stark Marked gene: TENM1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.1 TENM1 Zornitza Stark Gene: tenm1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.1 TENM1 Zornitza Stark Classified gene: TENM1 as Red List (low evidence)
Anophthalmia_Microphthalmia_Coloboma v0.1 TENM1 Zornitza Stark Gene: tenm1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.0 TENM1 Zornitza Stark reviewed gene: TENM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Anophthalmia_Microphthalmia_Coloboma v0.0 WDR37 Zornitza Stark gene: WDR37 was added
gene: WDR37 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR37 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 VSX2 Zornitza Stark gene: VSX2 was added
gene: VSX2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VSX2 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 VAX1 Zornitza Stark gene: VAX1 was added
gene: VAX1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VAX1 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 TFAP2A Zornitza Stark gene: TFAP2A was added
gene: TFAP2A was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFAP2A was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 TENM1 Zornitza Stark gene: TENM1 was added
gene: TENM1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TENM1 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 TBC1D20 Zornitza Stark gene: TBC1D20 was added
gene: TBC1D20 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D20 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STRA6 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 SOX2 Zornitza Stark gene: SOX2 was added
gene: SOX2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOX2 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 SMOC1 Zornitza Stark gene: SMOC1 was added
gene: SMOC1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMOC1 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 SMCHD1 Zornitza Stark gene: SMCHD1 was added
gene: SMCHD1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMCHD1 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 SIX6 Zornitza Stark gene: SIX6 was added
gene: SIX6 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX6 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 SIX3 Zornitza Stark gene: SIX3 was added
gene: SIX3 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX3 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SHH was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 RERE Zornitza Stark gene: RERE was added
gene: RERE was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RERE was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 RAX Zornitza Stark gene: RAX was added
gene: RAX was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAX was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RARB was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB3GAP2 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB3GAP1 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 RAB18 Zornitza Stark gene: RAB18 was added
gene: RAB18 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB18 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 PXDN Zornitza Stark gene: PXDN was added
gene: PXDN was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PXDN was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 PRSS56 Zornitza Stark gene: PRSS56 was added
gene: PRSS56 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRSS56 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 PRR12 Zornitza Stark gene: PRR12 was added
gene: PRR12 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRR12 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT1 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 PITX3 Zornitza Stark gene: PITX3 was added
gene: PITX3 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PITX3 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX6 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 PAX2 Zornitza Stark gene: PAX2 was added
gene: PAX2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX2 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 OTX2 Zornitza Stark gene: OTX2 was added
gene: OTX2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OTX2 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OCRL was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 NHS Zornitza Stark gene: NHS was added
gene: NHS was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NHS was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDP was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NAA10 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 MITF Zornitza Stark gene: MITF was added
gene: MITF was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MITF was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 MFRP Zornitza Stark gene: MFRP was added
gene: MFRP was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MFRP was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 MAB21L2 Zornitza Stark gene: MAB21L2 was added
gene: MAB21L2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAB21L2 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IKBKG was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HESX1 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HCCS was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 GJA8 Zornitza Stark gene: GJA8 was added
gene: GJA8 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJA8 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJA1 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 FOXE3 Zornitza Stark gene: FOXE3 was added
gene: FOXE3 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXE3 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A1 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD7 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 BMP4 Zornitza Stark gene: BMP4 was added
gene: BMP4 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMP4 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 BCOR Zornitza Stark gene: BCOR was added
gene: BCOR was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCOR was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASXL1 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 ALDH1A3 Zornitza Stark gene: ALDH1A3 was added
gene: ALDH1A3 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALDH1A3 was set to Unknown
Anophthalmia_Microphthalmia_Coloboma v0.0 Zornitza Stark Added panel Anophthalmia, microphthalmia, coloboma_VCGS