Cataract
Gene: RGS6EnsemblGeneIds (GRCh38): ENSG00000182732
EnsemblGeneIds (GRCh37): ENSG00000182732
OMIM: 603894, Gene2Phenotype
RGS6 is in 3 panels
1 review
Seb Lunke (Victorian Clinical Genetics Services)
Original paper from 2015 describes single consanguineous with two siblings affected by cataract, developmental delay, and microcephaly >3SD. A homozygous canonical splice variant predicted to lead to NMD in RGS6 was identified by WGS and linkage (rather than full WGS analysis). The 2024 paper speculates that the phenotype is driven by a change in RGS6 isoform balance rather than LoF using a knock-out mouse model. It is noted that the mice did not have microcephaly, and ID was assessed using social interaction. No mention of cataract in the mice.
Sources: LiteratureCreated: 7 Mar 2024, 12:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cataract,MONDO:0005129; intellectual disability, MONDO:0001071; microcephaly, MONDO:0001149
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Neurodevelopmental disorder, MONDO:0700092, RGS6-related
- OMIM
- 603894
- Clinvar variants
- Variants in RGS6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RGS6 were changed from Neurodevelopmental disorder, MONDO:0700092, RGS6-related to Neurodevelopmental disorder, MONDO:0700092, RGS6-related
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RGS6 were changed from Cataract,MONDO:0005129; intellectual disability, MONDO:0001071; microcephaly, MONDO:0001149 to Neurodevelopmental disorder, MONDO:0700092, RGS6-related
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: rgs6 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: RGS6 was added gene: RGS6 was added to Cataract. Sources: Literature Mode of inheritance for gene: RGS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RGS6 were set to 38332109; 25525169 Phenotypes for gene: RGS6 were set to Cataract,MONDO:0005129; intellectual disability, MONDO:0001071; microcephaly, MONDO:0001149 Review for gene: RGS6 was set to RED