31 Jan 2023
Differences in sex development v3.3
HHAT
Arina Puzriakova Tag Q4_21_rating was removed from gene: HHAT.
31 Jan 2023
Differences in sex development v3.2
HHAT
Arina Puzriakova commented on gene: HHAT
17 Dec 2021
Differences in sex development v2.55
HHAT
Eleanor Williams Phenotypes for gene: HHAT were changed from 46,XY DSD with chondrodysplasia to 46,XY DSD with chondrodysplasia; Nivelon-Nivelon-Mabille syndrome, OMIM:600092
17 Dec 2021
Differences in sex development v2.54
HHAT
Eleanor Williams Publications for gene: HHAT were set to 24784881
17 Dec 2021
Differences in sex development v2.53
HHAT
Eleanor Williams Classified gene: HHAT as Amber List (moderate evidence)
17 Dec 2021
Differences in sex development v2.53
HHAT
Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber but with a recommendation for green rating following GMS review. 2 cases reported with 46, XY karyotype and sex reversal, plus a supportive mouse model.
17 Dec 2021
Differences in sex development v2.53
HHAT
Eleanor Williams Gene: hhat has been classified as Amber List (Moderate Evidence).
17 Dec 2021
Differences in sex development v2.52
HHAT
Eleanor Williams Tag Q4_21_rating tag was added to gene: HHAT.
17 Dec 2021
Differences in sex development v2.52
HHAT
Eleanor Williams reviewed gene: HHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 24784881, 30912300, 33749989; Phenotypes: Nivelon-Nivelon-Mabille syndrome, OMIM:600092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Nov 2016
Differences in sex development
HHAT
Sarah Leigh marked HHAT as ready
02 Nov 2016
Differences in sex development
HHAT
Sarah Leigh commented on HHAT