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  3. RIMS1
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Autism

Gene: RIMS1

Green List (high evidence)
RIMS1 (regulating synaptic membrane exocytosis 1)
EnsemblGeneIds (GRCh38): ENSG00000079841
EnsemblGeneIds (GRCh37): ENSG00000079841
OMIM: 606629, Gene2Phenotype
RIMS1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Evidence from excess of deleterious RIMS1 variants observed in large autism cohorts.
Created: 10 Mar 2020, 5:15 a.m. | Last Modified: 10 Mar 2020, 5:15 a.m.
Panel Version: 0.74

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autism

Publications

Created: 10 Mar 2020, 5:15 a.m.
Last Modified: 10 Mar 2020, 5:15 a.m.
Panel version: 0.74

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Autism
OMIM
606629
Clinvar variants
Variants in RIMS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RIMS1 were changed from to Autism

10 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RIMS1 were set to

10 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RIMS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RIMS1 was added gene: RIMS1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RIMS1 was set to Unknown