Genomics England
GMS Panels
Panels
Genes and Entities

HMBS

hydroxymethylbilane synthase
OMIM: 609806
PanelMode of inheritanceDetails
7 panels
Green
in Acute intermittent porphyria
R-numbers: R169
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy, HP:0002352, cerebellar ataxia, MONDO:0000437
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy, porphyria-related, OMIM:620711, Encephalopathy, porphyria-related, OMIM:620704
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porphyria, acute intermittent OMIM:176000, acute intermittent porphyria MONDO:0008294, Leukoencephalopathy, porphyria-related OMIM:620711, leukoencephalopathy, porphyria-related, MONDO:0958226, Encephalopathy, porphyria-related, OMIM:620704, encephalopathy, porphyria-related, MONDO:0958224
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
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy, HP:0002352