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  3. RABGAP1
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Microcephaly

Gene: RABGAP1

Green List (high evidence)
RABGAP1 (RAB GTPase activating protein 1)
EnsemblGeneIds (GRCh38): ENSG00000011454
EnsemblGeneIds (GRCh37): ENSG00000011454
OMIM: 615882, Gene2Phenotype
RABGAP1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Created: 6 Oct 2022, 3:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092

Publications

Created: 6 Oct 2022, 3:19 a.m.

Panel version: 1.155

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
OMIM
615882
Clinvar variants
Variants in RABGAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rabgap1 has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rabgap1 has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rabgap1 has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RABGAP1 was added gene: RABGAP1 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RABGAP1 were set to 36083289 Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092 Review for gene: RABGAP1 was set to GREEN