Pulmonary Fibrosis_Interstitial Lung Disease
Gene: ARHGAP42
ARHGAP42 (Rho GTPase activating protein 42)
EnsemblGeneIds (GRCh38): ENSG00000165895
EnsemblGeneIds (GRCh37): ENSG00000165895
OMIM: 615936, Gene2Phenotype
ARHGAP42 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000165895
EnsemblGeneIds (GRCh37): ENSG00000165895
OMIM: 615936, Gene2Phenotype
ARHGAP42 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported with homozygous LoF variant, chILD disorder, systemic hypertension, and immunological findings.
Sources: LiteratureCreated: 18 Jul 2021, 6:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- 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
18 Jul 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arhgap42 has been classified as Red List (Low Evidence).
18 Jul 2021, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ARHGAP42 were changed from to Interstitial lung disease; systemic hypertension; immunological abnormalities
18 Jul 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ARHGAP42 was added gene: ARHGAP42 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: ARHGAP42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARHGAP42 were set to 34232960 Review for gene: ARHGAP42 was set to RED