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  3. HOXA13
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CAKUT

Gene: HOXA13

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by expert reviewer. Based on the review and available literature there is enough evidence to support a gene-disease association. Therefore, this gene has been given a Green status.
Created: 11 May 2020, 12:32 p.m. | Last Modified: 11 May 2020, 12:32 p.m.
Panel Version: 1.104
Created: 11 May 2020, 12:32 p.m.
Last Modified: 11 May 2020, 12:32 p.m.
Panel version: 1.104

Zornitza Stark (Australian Genomics)

Green List (high evidence)

CAKUT is a feature of this condition, variable severity.
Sources: Expert list
Created: 16 Jan 2020, 4:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hand-foot-uterus syndrome, MIM# 140000

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

Created: 16 Jan 2020, 4:06 a.m.

Panel version: 1.41

Details

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

History Filter Activity

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: hoxa13 has been classified as Green List (High Evidence).

11 May 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: HOXA13 were set to

11 May 2020, 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, 140000

16 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: HOXA13 was added gene: HOXA13 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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