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  3. RIMS2
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Syndromic Retinopathy

Gene: RIMS2

Green List (high evidence)
RIMS2 (regulating synaptic membrane exocytosis 2)
EnsemblGeneIds (GRCh38): ENSG00000176406
EnsemblGeneIds (GRCh37): ENSG00000176406
OMIM: 606630, Gene2Phenotype
RIMS2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Biallelic LoF variants reported with syndromic congenital cone-rod synaptic disease in 7 individuals from 4 families. Several individuals had autism. One had night blindness.
Sources: Expert Review
Created: 14 Oct 2020, 12:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 14 Oct 2020, 12:05 a.m.

Panel version: 0.133

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant. Several individuals had autism. One had night blindness.
Sources: Literature
Created: 1 Jun 2020, 4:42 a.m. | Last Modified: 1 Jun 2020, 5:35 a.m.
Panel Version: 0.2956

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 1 Jun 2020, 4:42 a.m.
Last Modified: 1 Jun 2020, 5:35 a.m.
Panel version: Imported from Mendeliome panel version 0.2943

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970
OMIM
606630
Clinvar variants
Variants in RIMS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rims2 has been classified as Green List (High Evidence).

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rims2 has been classified as Green List (High Evidence).

14 Oct 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RIMS2 was added gene: RIMS2 was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIMS2 were set to 32470375 Phenotypes for gene: RIMS2 were set to Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970 Review for gene: RIMS2 was set to GREEN