Cone-rod Dystrophy
Gene: RIMS1
RIMS1 (regulating synaptic membrane exocytosis 1)
EnsemblGeneIds (GRCh38): ENSG00000079841
EnsemblGeneIds (GRCh37): ENSG00000079841
OMIM: 606629, Gene2Phenotype
RIMS1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000079841
EnsemblGeneIds (GRCh37): ENSG00000079841
OMIM: 606629, Gene2Phenotype
RIMS1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single family reported where missense variant segregated with phenotype. Note gene more recently linked to autism.Created: 10 Mar 2020, 5:10 a.m. | Last Modified: 10 Mar 2020, 5:10 a.m.
Panel Version: 0.18
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cone-rod dystrophy 7 , MIM#603649
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cone-rod dystrophy 7, 603649
- OMIM
- 606629
- Clinvar variants
- Variants in RIMS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
22 May 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rims1 has been classified as Red List (Low Evidence).
22 May 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rims1 has been classified as Red List (Low Evidence).
19 May 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RIMS1 was added gene: RIMS1 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RIMS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RIMS1 were set to 30679166 Phenotypes for gene: RIMS1 were set to Cone-rod dystrophy 7, 603649