Disorders of sex development

Gene: HOXA13

Amber List (moderate evidence)

HOXA13 (homeobox A13)
EnsemblGeneIds (GRCh38): ENSG00000106031
EnsemblGeneIds (GRCh37): ENSG00000106031
OMIM: 142959, Gene2Phenotype
HOXA13 is in 10 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Phenotypes
Hand-foot-uterus syndrome, MIM# 140000

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Hand-foot-uterus syndrome, OMIM:140000
Tags
Q2_21_rating
OMIM
142959
Clinvar variants
Variants in HOXA13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: hoxa13 has been classified as Amber List (Moderate Evidence).

1 Mar 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: HOXA13.

1 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HOXA13 were changed from Hand-foot-uterus syndrome, MIM# 140000 to Hand-foot-uterus syndrome, OMIM:140000

18 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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