HAL

histidine ammonia-lyase
OMIM: 609457, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber HAL in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Histidinemia MIM#235800
  • Disorders of histidine, tryptophan or lysine metabolism

Red HAL in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • [Histidinemia], MIM#235800

Amber HAL in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.46

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Histidinemia MIM#235800
    • Disorders of histidine, tryptophan or lysine metabolism

    Red HAL in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • ClinGen
    Phenotypes
    • histidinemia MONDO:0009345