Cataract
Gene: ARL2
ARL2 (ADP ribosylation factor like GTPase 2)
EnsemblGeneIds (GRCh38): ENSG00000213465
EnsemblGeneIds (GRCh37): ENSG00000213465
OMIM: 601175, Gene2Phenotype
ARL2 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000213465
EnsemblGeneIds (GRCh37): ENSG00000213465
OMIM: 601175, Gene2Phenotype
ARL2 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single family reported, missense variant segregating with structural eye abnormalities in 4 individuals (father and three daughters).
Sources: Expert listCreated: 4 Nov 2020, 10:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082
- OMIM
- 601175
- Clinvar variants
- Variants in ARL2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
4 Nov 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arl2 has been classified as Red List (Low Evidence).
4 Nov 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ARL2 was added gene: ARL2 was added to Cataract. Sources: Expert list Mode of inheritance for gene: ARL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARL2 were set to 30945270 Phenotypes for gene: ARL2 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082 Review for gene: ARL2 was set to RED