Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Differences in sex development v3.3 HOXA13 Arina Puzriakova Tag Q2_21_rating was removed from gene: HOXA13.
Differences in sex development v3.3 HOXA13 Arina Puzriakova Source Expert Review Green was added to HOXA13.
Source NHS GMS was added to HOXA13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Differences in sex development v3.2 HOXA13 Arina Puzriakova reviewed gene: HOXA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Differences in sex development v2.25 HOXA13 Ivone Leong Classified gene: HOXA13 as Amber List (moderate evidence)
Differences in sex development v2.25 HOXA13 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Differences in sex development v2.25 HOXA13 Ivone Leong Gene: hoxa13 has been classified as Amber List (Moderate Evidence).
Differences in sex development v2.24 HOXA13 Ivone Leong Tag Q2_21_rating tag was added to gene: HOXA13.
Differences in sex development v2.24 HOXA13 Ivone Leong Phenotypes for gene: HOXA13 were changed from Hand-foot-uterus syndrome, MIM# 140000 to Hand-foot-uterus syndrome, OMIM:140000
Differences in sex development v2.4 HOXA13 Zornitza Stark gene: HOXA13 was added
gene: HOXA13 was added to Disorders of sex development. Sources: Expert list
Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXA13 were set to 10839976; 9020844
Phenotypes for gene: HOXA13 were set to Hand-foot-uterus syndrome, MIM# 140000
Review for gene: HOXA13 was set to GREEN
gene: HOXA13 was marked as current diagnostic
Added comment: Hypospadias/bifid scrotum in males, Mullerian duct fusion defects in females (double uterus, double cervix, longitudinal vaginal septum).
Sources: Expert list