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Intellectual disability syndromic and non-syndromic

Gene: RIMS1

Red List (low 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)

Red List (low evidence)

Excess variants observed in autism cohorts. Single family with RIMS1 variant segregating with cone-rod dystrophy.
Created: 10 Mar 2020, 5:07 a.m. | Last Modified: 10 Mar 2020, 5:07 a.m.
Panel Version: 0.2443

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autism; Cone-rod dystrophy 7 , MIM#603649

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Autism
  • Cone-rod dystrophy 7 , MIM#603649
OMIM
606629
Clinvar variants
Variants in RIMS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rims1 has been classified as Red List (Low Evidence).

10 Mar 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RIMS1 were changed from to Autism; Cone-rod dystrophy 7 , MIM#603649

10 Mar 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RIMS1 were set to

10 Mar 2020, Gel status: 1

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

10 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rims1 has been classified as Red List (Low Evidence).

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RIMS1 was set to Unknown