Retinal disorders
Gene: RIMS2

RIMS2 (regulating synaptic membrane exocytosis 2)
EnsemblGeneIds (GRCh38): ENSG00000176406
EnsemblGeneIds (GRCh37): ENSG00000176406
OMIM: 606630, Gene2Phenotype
RIMS2 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 27 Jan 2021, 11:12 a.m. | Last Modified: 27 Jan 2021, 11:12 a.m.

Panel Version: 2.142

Created: 27 Jan 2021, 11:12 a.m.
Last Modified: 27 Jan 2021, 11:12 a.m.
Panel version: 2.243

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Biallelic LoF variants reported with syndromic congenital cone-rod synaptic disease in 7 individuals from 4 families.
Sources: Expert list
Created: 14 Oct 2020, 12:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970

Publications

32470375

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Oct 2020, 12:03 a.m.

Panel version: 2.20

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Cone-rod synaptic disorder syndrome, congenital nonprogressive, OMIM:618970

OMIM

606630

Clinvar variants

Variants in RIMS2

Penetrance

None

Publications

32470375

Panels with this gene