Genomics England

HMBS

hydroxymethylbilane synthase

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Acute intermittent porphyria R-numbers: R169 Signed-off version 2.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Porphyria, acute intermittent, nonerythroid variant, OMIM:176000, Porphyria, acute intermittent, OMIM:176000, acute intermittent porphyria, MONDO:0008294, Encephalopathy, porphyria-related, OMIM:620704, encephalopathy, porphyria-related, MONDO:0958224, Leukoencephalopathy, porphyria-related, OMIM: 620711
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy, HP:0002352, cerebellar ataxia, MONDO:0000437
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy, porphyria-related, OMIM: 620711, Encephalopathy, porphyria-related, OMIM: 620704
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 9.0	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 8.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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 9.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	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 - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy, HP:0002352