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Autism

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)

Comment when marking as ready: Most affected individuals reported as having autism.
Created: 1 Jun 2020, 5:52 a.m. | Last Modified: 1 Jun 2020, 5:52 a.m.
Panel Version: 0.97
Created: 1 Jun 2020, 5:52 a.m.
Last Modified: 1 Jun 2020, 5:52 a.m.
Panel version: 0.97

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, 5:33 a.m. | Last Modified: 1 Jun 2020, 5:35 a.m.
Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
nystagmus; retinal dysfunction; autism; night blindness

Publications

Created: 1 Jun 2020, 5:33 a.m.
Last Modified: 1 Jun 2020, 5:35 a.m.
Panel version: 0.96

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • nystagmus
  • retinal dysfunction
  • autism
  • night blindness
  • 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

31 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970

1 Jun 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).

1 Jun 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).

1 Jun 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

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