DDG2P
Gene: RABGAP1

RABGAP1 (RAB GTPase activating protein 1)
EnsemblGeneIds (GRCh38): ENSG00000011454
EnsemblGeneIds (GRCh37): ENSG00000011454
OMIM: 615882, Gene2Phenotype
RABGAP1 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 36083289).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss

Publications

36083289

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss

Tags

gene-checked

OMIM

615882

Clinvar variants

Variants in RABGAP1

Penetrance

None

Publications

36083289

Panels with this gene

DDG2P

History Filter Activity

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: RABGAP1.

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RABGAP1 was added gene: RABGAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss

DDG2P Gene: RABGAP1