Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 |