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  2. Radial Ray Abnormalities
  3. HOXA13
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Radial Ray Abnormalities

Gene: HOXA13

Green List (high evidence)
HOXA13 (homeobox A13)
EnsemblGeneIds (GRCh38): ENSG00000106031
EnsemblGeneIds (GRCh37): ENSG00000106031
OMIM: 142959, Gene2Phenotype
HOXA13 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, hypoplastic thumbs reported.
Sources: Expert list
Created: 23 Jul 2020, 8:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hand-foot-uterus syndrome, MIM# 140000

Created: 23 Jul 2020, 8:17 a.m.

Panel version: 0.54

Details

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

History Filter Activity

23 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HOXA13 was added gene: HOXA13 was added to Radial Ray Abnormalities. 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