HAL

histidine ammonia-lyase
OMIM: 609457, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red HAL in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.418

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism)

Red HAL in Inborn errors of metabolism


Version 2.15
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism)

    Red HAL in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.37
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • Expert