Differences of Sex Development
Gene: ARHGAP35EnsemblGeneIds (GRCh38): ENSG00000160007
EnsemblGeneIds (GRCh37): ENSG00000160007
OMIM: 605277, Gene2Phenotype
ARHGAP35 is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related
Chirag Patel (Genetic Health Queensland)
12 patients with idiopathic hypogonadotropic hypogonadism. Rare protein-truncating variants (n = 5) and missense variants (n = 7) found in the RhoGAP domain of ARHGAP35 gene. Zebrafish modeling using gnrh3:egfp phenotype assessment showed that mutant larvae with deficient arhgap35a (predominant ARHGAP35 paralog in zebrafish brain), displayed decreased GnRH3-GFP+ neuronal area, a readout for IHH. In vitro GAP activity studies showed that 1 rare missense variant (Arg1284Trp) had decreased GAP activity.
Sources: LiteratureCreated: 3 Feb 2023, 5:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Idiopathic hypogonadotropic hypogonadism, no OMIM #
Publications
- PMID: 36178483
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related
- OMIM
- 605277
- Clinvar variants
- Variants in ARHGAP35
- Penetrance
- None
- Publications
-
- PMID: 36178483
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arhgap35 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ARHGAP35 were changed from Idiopathic hypogonadotropic hypogonadism, no OMIM # to Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: arhgap35 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: ARHGAP35 was added gene: ARHGAP35 was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGAP35 were set to PMID: 36178483 Phenotypes for gene: ARHGAP35 were set to Idiopathic hypogonadotropic hypogonadism, no OMIM # Review for gene: ARHGAP35 was set to GREEN