Genomics England
GMS Panels
Panels
Genes and Entities

HMBS

hydroxymethylbilane synthase
OMIM: 609806
PanelMode of inheritanceDetails
4 panels
Green
in Acute intermittent porphyria
R-numbers: R169
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 3.24
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy, Porphyria, acute intermittent, 176000
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porphyria, acute intermittent, nonerythroid variant, 176000, Acute intermittent porphyria (Acute neuropathic porphyrias), Porphyria, acute intermittent, 176000
Green
in Non-acute porphyrias
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