Clefting
Gene: HOXA2

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

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Changed status from Amber to Red based on feedback from in-house clinical team
Created: 20 Mar 2017, 10:59 a.m.

Review feedback from clinical team to keep gene as red. The phenotype is not very distinctive, and the variants, though de novo, are missense. There is also nothing very convincing about their clustering or function.
Created: 20 Mar 2017, 10:51 a.m.

Comment on publications: Currently there is evidence for one family (AR) PMID: 18394579 and two families (AD) PMID:23775976; 27503514.
Created: 26 Jan 2017, 2:49 p.m.

Comment on list classification: Promoted gene status from Red to amber due to evidence found in three unrelated individuals.
Created: 26 Jan 2017, 2:48 p.m.

Comment on mode of inheritance: Both AR and AD forms
Created: 26 Jan 2017, 2:30 p.m.

Comment on phenotypes: Added disorders (include clefting as part of the clinical synopsis) from OMIM and from reviewer.
Created: 26 Jan 2017, 2:09 p.m.

Created: 20 Mar 2017, 10:51 a.m.

Panel version: 0.187

Usha Kini (Oxford Centre for Genomic Medicine)

Phenotypes
Ear anomalies and orofacial clefting

Created: 8 Dec 2016, 10:49 a.m.

Panel version: 0.35

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Red
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Microtia, Hearing Impairment, and Cleft Palate
Ear anomalies and orofacial clefting
?Microtia with or without hearing impairment (includes clefting), 612290, (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
?Microtia with or without hearing impairment (includes clefting), 612290, (BIALLELIC, autosomal or pseudoautosomal)
Cleft palate

OMIM

604685

Clinvar variants

Variants in HOXA2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

13 Aug 2018, Gel status: 1

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to HOXA2. Panel: Clefting Phenotypes for gene HOXA2 were set to Microtia, Hearing Impairment, and Cleft Palate, Ear anomalies and orofacial clefting, ?Microtia with or without hearing impairment (includes clefting), 612290, (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), ?Microtia with or without hearing impairment (includes clefting), 612290, (BIALLELIC, autosomal or pseudoautosomal), Cleft palate

31 May 2017, Gel status: 1