Deafness_IsolatedAndComplex
Gene: HOXA1EnsemblGeneIds (GRCh38): ENSG00000105991
EnsemblGeneIds (GRCh37): ENSG00000105991
OMIM: 142955, Gene2Phenotype
HOXA1 is in 11 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
At least 10 families reported.
175-176insG is known as the Saudi Arabian variant, while 76C>T is known as the native american variant.
Features include:
Conotruncal heart defects, Abnormalities of the internal carotid artery and other cerebral arteries, Abnormal skull base
Biallelic variants in this gene cause a syndrome affecting hindbrain development, with BSAS and ABDS allelic disorders.
Sources: LiteratureCreated: 8 Nov 2021, 5:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
thabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Athabaskan brainstem dysgenesis syndrome MIM#601536
- Bosley-Salih-Alorainy syndrome MIM#601536
- OMIM
- 142955
- Clinvar variants
- Variants in HOXA1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hoxa1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HOXA1 were changed from thabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536 to Athabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hoxa1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: HOXA1 was added gene: HOXA1 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXA1 were set to 16155570; 18412118; 32864817 Phenotypes for gene: HOXA1 were set to thabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536 Penetrance for gene: HOXA1 were set to Complete Review for gene: HOXA1 was set to GREEN gene: HOXA1 was marked as current diagnostic