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Primary immunodeficiency

Gene: ARHGAP42

Red List (low evidence)

ARHGAP42 (Rho GTPase activating protein 42)
EnsemblGeneIds (GRCh38): ENSG00000165895
EnsemblGeneIds (GRCh37): ENSG00000165895
OMIM: 615936, Gene2Phenotype
ARHGAP42 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Only a single individual reported to date with a homozygous stop-gain variant in ARHGAP42 associated with immunological findings, among other features (PMID: 34232960). Rating Red, awaiting further evidence.
Created: 9 Aug 2021, 12:56 p.m. | Last Modified: 9 Aug 2021, 12:56 p.m.
Panel Version: 2.453

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single individual reported with homozygous LoF variant, chILD disorder, systemic hypertension, and immunological findings.
Sources: Literature
Created: 7 Aug 2021, 2 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Interstitial lung disease; systemic hypertension; immunological abnormalities

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Interstitial lung disease
  • systemic hypertension
  • immunological abnormalities
OMIM
615936
Clinvar variants
Variants in ARHGAP42
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: arhgap42 has been classified as Red List (Low Evidence).

7 Aug 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ARHGAP42 was added gene: ARHGAP42 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: ARHGAP42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARHGAP42 were set to 34232960 Phenotypes for gene: ARHGAP42 were set to Interstitial lung disease; systemic hypertension; immunological abnormalities Review for gene: ARHGAP42 was set to RED