| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypogonadotropic hypogonadism (GMS) v3.9 | ARHGAP35 | Achchuthan Shanmugasundram Classified gene: ARHGAP35 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.9 | ARHGAP35 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for promoting this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.9 | ARHGAP35 | Achchuthan Shanmugasundram Gene: arhgap35 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.8 | ARHGAP35 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ARHGAP35. Tag Q4_23_NHS_review tag was added to gene: ARHGAP35. |
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| Hypogonadotropic hypogonadism (GMS) v3.8 | ARHGAP35 |
Achchuthan Shanmugasundram gene: ARHGAP35 was added gene: ARHGAP35 was added to Hypogonadotropic hypogonadism (GMS). Sources: Literature Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGAP35 were set to 36178483 Phenotypes for gene: ARHGAP35 were set to hypogonadotropic hypogonadism, MONDO:0018555 Review for gene: ARHGAP35 was set to GREEN Added comment: 16 patients from 13 different families were reported with idiopathic hypogonadotropic hypogonadism (9 with IHH and 7 with Kallmann syndrome (IHH + anosmia)) and with monoallelic ARHGAP35 variants. Rare protein-truncating variants and missense variants were 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. This gene has not yet been associated with this phenotype either in OMIM or in Gene2Phenotype. However, this gene has been associated with ARHGAP35-related developmental disorder in DD panel of G2P (with 'definitive' rating). Sources: Literature |
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