1. Panels
  2. Differences in sex development
  3. HOXA13
STRs in panel
Prev Next

Differences in sex development

Gene: HOXA13

Green List (high evidence)
HOXA13 (homeobox A13)
EnsemblGeneIds (GRCh38): ENSG00000106031
EnsemblGeneIds (GRCh37): ENSG00000106031
OMIM: 142959, Gene2Phenotype
HOXA13 is in 9 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. Additional comments from reviewing GLHs: 'May be more apporpirate to test via limb disorders panel (WGS).'
Created: 31 Jan 2023, 4:46 p.m. | Last Modified: 31 Jan 2023, 4:46 p.m.
Panel Version: 3.2
Created: 31 Jan 2023, 4:46 p.m.
Last Modified: 31 Jan 2023, 4:46 p.m.
Panel version: 3.2

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
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

Created: 18 Jul 2020, 7:35 a.m.

Panel version: 2.4

Details

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

History Filter Activity

31 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating was removed from gene: HOXA13.

31 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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)

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