Genomics England
GMS Panels
Panels
Genes and Entities

ALAD

aminolevulinate dehydratase
OMIM: 125270
PanelMode of inheritanceDetails
3 panels
Green
in Cutaneous photosensitivity with a likely genetic cause
R-numbers: R237
Signed-off version 3.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Lead poisoning, susceptibility to} 612740, Porphyria, acute hepatic 612740, Acute hepatic porphyria (Acute neuropathic porphyrias)
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Lead poisoning, susceptibility to} 612740, Acute hepatic porphyria (Acute neuropathic porphyrias), Porphyria, acute hepatic 612740
Green
in Non-acute porphyrias
R-numbers: R168
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Porphyria, acute hepatic OMIM:612740, porphyria due to ALA dehydratase deficiency MONDO:0013000