Genomics England

HMBS

hydroxymethylbilane synthase

Panel	Mode of inheritance	Details
Filter panels7 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 7.0	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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy, HP:0002352, hereditary spastic paraplegia, MONDO:0019064
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.0	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 7.0	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
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy, HP:0002352