HMBS

hydroxymethylbilane synthase
OMIM: 609806
PanelMode of inheritanceDetails
4 panels
R-numbers: R237
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porphyria, acute intermittent, 176000, Acute intermittent porphyria (Acute neuropathic porphyrias), Porphyria, acute intermittent, nonerythroid variant, 176000
R-numbers: R78
Signed-off version 1.36
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy, Porphyria, acute intermittent, 176000
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porphyria, acute intermittent, nonerythroid variant, 176000, Acute intermittent porphyria (Acute neuropathic porphyrias), Porphyria, acute intermittent, 176000
R-numbers: R168
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acute intermittent porphyria (Acute neuropathic porphyrias), Porphyria, acute intermittent, nonerythroid variant, 176000, Porphyria, acute intermittent, 176000