Genomics England

HMBS

hydroxymethylbilane synthase

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Acute intermittent porphyria R-numbers: R169 Signed-off version 2.2	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 - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy, HP:0002352, cerebellar ataxia, MONDO:0000437, Leukoencephalopathy, porphyria-related, OMIM:620711, Encephalopathy, porphyria-related, OMIM:620704
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 8.5	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 8.30	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 Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy, porphyria-related, OMIM:620711, Encephalopathy, porphyria-related, OMIM:620704
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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 2.0	BOTH monoallelic and biallelic, 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 White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy, HP:0002352, Leukoencephalopathy, porphyria-related, OMIM:620711