Disorders of sex developmentGene: HOXA13
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.
Created: 1 Mar 2021, 2:06 p.m. | Last Modified: 1 Mar 2021, 2:06 p.m.
Panel Version: 2.25
Hypospadias/bifid scrotum in males, Mullerian duct fusion defects in females (double uterus, double cervix, longitudinal vaginal septum).
Sources: Expert list
Created: 18 Jul 2020, 7:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hand-foot-uterus syndrome, MIM# 140000
Variants in this GENE are reported as part of current diagnostic practice
Gene: hoxa13 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: HOXA13.
Phenotypes for gene: HOXA13 were changed from Hand-foot-uterus syndrome, MIM# 140000 to Hand-foot-uterus syndrome, OMIM:140000
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