Genomics England
GMS Panels
Panels
Genes and Entities

HMBS

hydroxymethylbilane synthase
OMIM: 609806
PanelMode of inheritanceDetails
4 panels
Green
in Cutaneous photosensitivity with a likely genetic cause
R-numbers: R237
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porphyria, acute intermittent, 176000, Acute intermittent porphyria (Acute neuropathic porphyrias), Porphyria, acute intermittent, nonerythroid variant, 176000
Green
in Hereditary neuropathy NOT PMP22 copy number
R-numbers: R78
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy, Porphyria, acute intermittent, 176000
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
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