Clefting
Gene: HOXA2
Comment on list classification: Changed status from Amber to Red based on feedback from in-house clinical teamCreated: 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 formsCreated: 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.
Phenotypes
Ear anomalies and orofacial clefting
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
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for HOXA2 were set to 18394579;23775976;27503514
Mode of inheritance for HOXA2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for 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)
Phenotypes for HOXA2 were set to Microtia, Hearing Impairment, and Cleft Palate; Ear anomalies and orofacial clefting;
HOXA2 was created by oniblock
HOXA2 was added to Cleftingpanel. Sources: Illumina TruGenome Clinical Sequencing Services