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  3. RIMS1
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Glaucoma (developmental)

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Li has reported variant in coloboma, among a BEST1 variant - not overly convincing, otherwise only retinal cases
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cone-rod dystrophy 7; 603649

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 19 Jun 2019, 3:32 p.m.

Panel version: Imported from Structural eye disease panel version 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Li has reported variant in coloboma, among a BEST1 variant - not overly convincing, otherwise only retinal cases
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cone-rod dystrophy 7, 603649

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 17 Apr 2019, 3:30 p.m.

Panel version: Imported from Structural eye disease panel version 0.48

Details

Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
OMIM
606629
Clinvar variants
Variants in RIMS1
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

RIMS1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory