Miscellaneous Metabolic Disorders

Gene: HAL

Amber List (moderate evidence)

HAL (histidine ammonia-lyase)
EnsemblGeneIds (GRCh38): ENSG00000084110
EnsemblGeneIds (GRCh37): ENSG00000084110
OMIM: 609457, Gene2Phenotype
HAL is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Benign clinical condition
Created: 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: Literature
Created: 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

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

8 Feb 2021, Gel status: 1

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