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Retinal disorders

Gene: RIMS2

Green List (high evidence)

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

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

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

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
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: RIMS2.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to RIMS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

27 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: RIMS2.

27 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: rims2 has been classified as Amber List (Moderate Evidence).

27 Jan 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RIMS2 were changed from Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970 to Cone-rod synaptic disorder syndrome, congenital nonprogressive, OMIM:618970

14 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RIMS2 was added gene: RIMS2 was added to Retinal disorders. Sources: Expert list 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 gene: RIMS2 was marked as current diagnostic