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Intellectual disability syndromic and non-syndromic

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by ClinGen ID and Autism GCEP on 19/06/2019 - https://search.clinicalgenome.org/CCID:005077
Created: 14 May 2024, 5:40 a.m. | Last Modified: 14 May 2024, 5:40 a.m.
Panel Version: 0.5821

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
syndromic intellectual disability MONDO:0000508

Publications

  • https://search.clinicalgenome.org/CCID:005077

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536
OMIM
142955
Clinvar variants
Variants in HOXA1
Penetrance
None
Publications
  • https://search.clinicalgenome.org/CCID:005077
Panels with this gene

History Filter Activity

14 Nov 2024, 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).

14 Nov 2024, Gel status: 3

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

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HOXA1 were set to

14 Nov 2024, Gel status: 3

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

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HOXA1 was set to Unknown