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Genetic Epilepsy

Gene: HOXA1

Amber List (moderate evidence)

HOXA1 (homeobox A1)
EnsemblGeneIds (GRCh38): ENSG00000105991
EnsemblGeneIds (GRCh37): ENSG00000105991
OMIM: 142955, Gene2Phenotype
HOXA1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Biallelic variants in this gene cause a syndrome affecting hindbrain development, with BSAS and ABDS allelic disorders. Some patients with ABDS have been reported as having seizures; however, it is unclear whether this is a common part of the phenotype.
Created: 23 Jan 2020, 11:34 p.m. | Last Modified: 23 Jan 2020, 11:34 p.m.
Panel Version: 0.311

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536
OMIM
142955
Clinvar variants
Variants in HOXA1
Penetrance
None
Panels with this gene

History Filter Activity

23 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HOXA1 were changed from Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536

23 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoxa1 has been classified as Amber List (Moderate Evidence).

23 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HOXA1 were changed from to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536

23 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HOXA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

23 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoxa1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HOXA1 was added gene: HOXA1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HOXA1 was set to Unknown