1. Panels
  2. Prepair 1000+
  3. HOXA1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: HOXA1

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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Allelic disorders.

Features common to both disorders include Duane retraction syndrome with variable gaze palsies, sensorineural deafness associated with inner ear abnormalities, and delayed motor development. Highly variable phenotype (OMIM)
Created: 27 Jan 2025, 9:21 p.m. | Last Modified: 27 Jan 2025, 9:21 p.m.
Panel Version: 1.1348

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 27 Jan 2025, 9:21 p.m.
Last Modified: 27 Jan 2025, 9:21 p.m.
Panel version: 1.1348

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Athabaskan brainstem dysgenesis syndrome, MIM#601536
  • Bosley-Salih-Alorainy syndrome, MIM#601536
OMIM
142955
Clinvar variants
Variants in HOXA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoxa1 has been classified as Green List (High Evidence).

28 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HOXA1 were changed from Athabaskan brainstem dysgenesis syndrome, 601536 (3) to Athabaskan brainstem dysgenesis syndrome, MIM#601536; Bosley-Salih-Alorainy syndrome, MIM#601536

28 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HOXA1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HOXA1 was added gene: HOXA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome, 601536 (3)