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  3. RIMS1
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Retinal disorders

Gene: RIMS1

Red List (low evidence)
RIMS1 (regulating synaptic membrane exocytosis 1)
EnsemblGeneIds (GRCh38): ENSG00000079841
EnsemblGeneIds (GRCh37): ENSG00000079841
OMIM: 606629, Gene2Phenotype
RIMS1 is in 4 panels

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Red List (low evidence)

no evidence anymore
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:06 a.m.
Created: 2 Jun 2016, 8:06 a.m.

Panel version: 0.201

Stephanie Barton (Manchester Centre for Genomic Medicine)

I don't know

We have found nonsense mutations in this gene, which is reported to be associated with dominant retinal disease, in patients with known mutations in other genes, which account for their phenotype. Insufficient evidence to include this in the green list.
Created: 1 Jun 2016, 11:20 a.m.

Mode of inheritance
Unknown

Phenotypes
Cone rod dystrophy 7

Publications

  • Limited reports on HGMD
  • associated with different retinal phenotypes.

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

Created: 1 Jun 2016, 11:20 a.m.

Panel version: 0.173

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Dominant
  • Cone-rod dystrophy 7, 603649
OMIM
606629
Clinvar variants
Variants in RIMS1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RIMS1.

1 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RIMS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RIMS1 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RIMS1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green