ALAD

aminolevulinate dehydratase
OMIM: 125270
PanelMode of inheritanceDetails
4 panels
R-numbers: R237
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Lead poisoning, susceptibility to} 612740, Porphyria, acute hepatic 612740, Acute hepatic porphyria (Acute neuropathic porphyrias)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACUTE HEPATIC PORPHYRIA 612740
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Lead poisoning, susceptibility to} 612740, Acute hepatic porphyria (Acute neuropathic porphyrias), Porphyria, acute hepatic 612740
R-numbers: R168
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Porphyria, acute hepatic 612740, {Lead poisoning, susceptibility to} 612740, Acute hepatic porphyria (Acute neuropathic porphyrias)