Anophthalmia_Microphthalmia_Coloboma
Gene: ARHGAP35EnsemblGeneIds (GRCh38): ENSG00000160007
EnsemblGeneIds (GRCh37): ENSG00000160007
OMIM: 605277, Gene2Phenotype
ARHGAP35 is in 4 panels
1 review
Dean Phelan (Victorian Clinical Genetics Services)
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: LiteratureCreated: 5 Jan 2023, 3:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental defect of the eye (MONDO:0020145), ARHGAP35-related
Publications
- PMID: 36450800
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Developmental defect of the eye (MONDO:0020145), ARHGAP35-related
- OMIM
- 605277
- Clinvar variants
- Variants in ARHGAP35
- Penetrance
- None
- Publications
-
- PMID: 36450800
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: arhgap35 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: arhgap35 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Dean Phelan (Victorian Clinical Genetics Services)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