Cataract
Gene: RIC1
RIC1 (RIC1 homolog, RAB6A GEF complex partner 1)
EnsemblGeneIds (GRCh38): ENSG00000107036
EnsemblGeneIds (GRCh37): ENSG00000107036
OMIM: 610354, Gene2Phenotype
RIC1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000107036
EnsemblGeneIds (GRCh37): ENSG00000107036
OMIM: 610354, Gene2Phenotype
RIC1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
8 individuals from two consanguineous families, homozygous for same missense variant (founder effect). Cataract is a key feature of the phenotype.
Sources: Expert listCreated: 7 Jul 2020, 3:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CATIFA syndrome, MIM# 618761
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- CATIFA syndrome, MIM# 618761
- OMIM
- 610354
- Clinvar variants
- Variants in RIC1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
7 Jul 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ric1 has been classified as Amber List (Moderate Evidence).
7 Jul 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ric1 has been classified as Amber List (Moderate Evidence).
7 Jul 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: RIC1 was added gene: RIC1 was added to Cataract. Sources: Expert list Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIC1 were set to 27878435; 31932796 Phenotypes for gene: RIC1 were set to CATIFA syndrome, MIM# 618761 Review for gene: RIC1 was set to AMBER