Miscellaneous Metabolic Disorders
Gene: HALEnsemblGeneIds (GRCh38): ENSG00000084110
EnsemblGeneIds (GRCh37): ENSG00000084110
OMIM: 609457, Gene2Phenotype
HAL is in 4 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Benign clinical conditionCreated: 8 Feb 2021, 2:45 a.m. | Last Modified: 8 Feb 2021, 2:45 a.m.
Panel Version: 0.308
At least 4 individuals with heterozygous variants and 1 with biallelic variants with histidinemia, but no consistent clinical phenotype.
Sources: LiteratureCreated: 8 Feb 2021, 2:45 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Histidinemia MIM#235800; Disorders of histidine, tryptophan or lysine metabolism
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Histidinemia MIM#235800
- Disorders of histidine, tryptophan or lysine metabolism
- OMIM
- 609457
- Clinvar variants
- Variants in HAL
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hal has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hal has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HAL was added gene: HAL was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: HAL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HAL were set to 27604308; 15806399; 20156889 Phenotypes for gene: HAL were set to Histidinemia MIM#235800; Disorders of histidine, tryptophan or lysine metabolism Review for gene: HAL was set to GREEN