Retinal disorders
Gene: RIMS2The 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
Biallelic LoF variants reported with syndromic congenital cone-rod synaptic disease in 7 individuals from 4 families.
Sources: Expert listCreated: 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
Tag for-review was removed from gene: RIMS2.
Source Expert Review Green was added to RIMS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: RIMS2.
Gene: rims2 has been classified as Amber List (Moderate Evidence).
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
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