Aminoacidopathy
Gene: HAL
HAL (histidine ammonia-lyase)
EnsemblGeneIds (GRCh38): ENSG00000084110
EnsemblGeneIds (GRCh37): ENSG00000084110
OMIM: 609457, Gene2Phenotype
HAL is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000084110
EnsemblGeneIds (GRCh37): ENSG00000084110
OMIM: 609457, Gene2Phenotype
HAL is in 4 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified Limited by ClinGen Aminoacidopathy GCEP on 17/11/2023 - https://search.clinicalgenome.org/CCID:005031
Metabolic disorder appears to be benign in most reported affected individuals.
Sources: ClinGenCreated: 7 Jun 2024, 12:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
histidinemia MONDO:0009345
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- histidinemia MONDO:0009345
- OMIM
- 609457
- Clinvar variants
- Variants in HAL
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
7 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hal has been classified as Red List (Low Evidence).
7 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hal has been classified as Red List (Low Evidence).
7 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: HAL was added gene: HAL was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HAL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAL were set to 15806399 Phenotypes for gene: HAL were set to histidinemia MONDO:0009345 Review for gene: HAL was set to RED