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Autism

Gene: RIMS2

No list
RIMS2 (regulating synaptic membrane exocytosis 2)
EnsemblGeneIds (GRCh38): ENSG00000176406
EnsemblGeneIds (GRCh37): ENSG00000176406
OMIM: 606630, Gene2Phenotype
RIMS2 is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Biallelic LoF variants reported to segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Most reported as having autism.
Sources: Literature
Created: 3 Jun 2020, 10:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
nystagmus; retinal dysfunction; autism; night blindness

Publications

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

Created: 3 Jun 2020, 10:43 a.m.

Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • nystagmus
  • retinal dysfunction
  • autism
  • night blindness
OMIM
606630
Clinvar variants
Variants in RIMS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jun 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 Autism. Sources: Literature 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 nystagmus; retinal dysfunction; autism; night blindness Review for gene: RIMS2 was set to GREEN gene: RIMS2 was marked as current diagnostic