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  3. HOXA2
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Fetal anomalies

Gene: HOXA2

Red List (low evidence)
HOXA2 (homeobox A2)
EnsemblGeneIds (GRCh38): ENSG00000105996
EnsemblGeneIds (GRCh37): ENSG00000105996
OMIM: 604685, Gene2Phenotype
HOXA2 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: Non syndromic microtia. Red.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Microtia with or without hearing impairment (AD), OMIM:612290

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Microtia with or without hearing impairment (AD), OMIM:612290
OMIM
604685
Clinvar variants
Variants in HOXA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HOXA2 was added gene: HOXA2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HOXA2 were set to 32649979; 27503514; 28109504; 18394579; 23775976; 31567444 Phenotypes for gene: HOXA2 were set to Microtia with or without hearing impairment (AD), OMIM:612290