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 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porphyria, acute intermittent, OMIM:76000, Porphyria, acute intermittent, nonerythroid variant, OMIM:176000, Leukoencephalopathy, HP:0002352, hereditary peripheral neuropathy, MONDO:0020127
Green
in Likely inborn error of metabolism
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 6.0
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