| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypogonadotropic hypogonadism v0.103 | ARHGAP5 | Chirag Patel Marked gene: ARHGAP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.103 | ARHGAP5 | Chirag Patel Gene: arhgap5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.103 | ARHGAP5 |
Chirag Patel gene: ARHGAP5 was added gene: ARHGAP5 was added to Hypogonadotropic hypogonadism. Sources: Literature Mode of inheritance for gene: ARHGAP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARHGAP5 were set to 39308770; 36178483 Phenotypes for gene: ARHGAP5 were set to Kallmann syndrome MONDO:0018800 Review for gene: ARHGAP5 was set to RED Added comment: PMID 36178483 reports 2 individuals from 2 unrelated families with heterozygous truncating variants in ARHGAP5 (p.Phe790Ilefs*2, p.Tyr502Metfs*3) presenting with hypogonadotropic hypogonadism/Kallmann syndrome (childhood onset, anosmia). One variant was de novo and the other had unknown parental status. Functional zebrafish modeling showed no robust GnRH phenotype. PMID 39308770 reported 1 patient with hypogonadotropic hypogonadism and a heterozygous ARHGAP5 variant (p.Val269Leu - classified as VUS) but provided no detailed phenotype, segregation or functional data. Sources: Literature |
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