HMBS

hydroxymethylbilane synthase
OMIM: 609806, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green HMBS in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.11 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leukoencephalopathy, HP:0002352
Green HMBS in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Leukoencephalopathy, HP:0002352 cerebellar ataxia, MONDO:0000437
Green HMBS in Non-acute porphyrias Level 2: Gastrohepatology Version 1.35 Latest signed off version: v1.4 (15 Oct 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS 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
Amber HMBS in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Leukoencephalopathy, porphyria-related, OMIM: 620711 Encephalopathy, porphyria-related, OMIM: 620704 Tags Q2_25_ promote_green
Red HMBS in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list
Amber HMBS in Cutaneous photosensitivity with a likely genetic cause Level 2: Dermatology Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert Review Phenotypes Porphyria, acute intermittent, OMIM:176000 Porphyria, acute intermittent, nonerythroid variant, OMIM:176000 Leukoencephalopathy, porphyria-related OMIM:620711 leukoencephalopathy, porphyria-related, MONDO:0958226 Encephalopathy, porphyria-related, OMIM:620704 encephalopathy, porphyria-related, MONDO:0958224
Green HMBS in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Leukoencephalopathy, porphyria-related, OMIM:620711 Encephalopathy, porphyria-related, OMIM:620704
Green HMBS in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Acute intermittent porphyria (Acute neuropathic porphyrias) Porphyria, acute intermittent, 176000 Porphyria, acute intermittent, nonerythroid variant, 176000
Green HMBS in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green 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 Tags Q2_25_ MOI
Green HMBS in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS London North GLH Phenotypes Porphyria, acute intermittent, 176000 AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy
Green HMBS in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Porphyria, acute intermittent, OMIM:76000 Porphyria, acute intermittent, nonerythroid variant, OMIM:176000 Leukoencephalopathy, HP:0002352 hereditary peripheral neuropathy, MONDO:0020127 Tags Q2_25_ MOI
Red HMBS in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH
Green HMBS in Acute intermittent porphyria Level 2: Gastrohepatology Version 1.6 Latest signed off version: v1.0 (14 Sep 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green 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