Activity

Filter

Cancel
Date Panel Item Activity
5 actions
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