HMBS

hydroxymethylbilane synthase
OMIM: 609806, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Amber HMBS in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Leukoencephalopathy, HP:0002352 Tags Q1_24_promote_green
Amber HMBS in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukoencephalopathy, HP:0002352 cerebellar ataxia, MONDO:0000437 Tags Q1_24_promote_green
Green HMBS in Non-acute porphyrias Version 1.24 Latest signed off version: v1.4 (15 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other NHS GMS Phenotypes Porphyria, acute intermittent, nonerythroid variant OMIM:176000 Porphyria, acute intermittent OMIM:176000 acute intermittent porphyria MONDO:0008294
Red HMBS in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list
Amber HMBS in Cutaneous photosensitivity with a likely genetic cause Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert Review Phenotypes Porphyria, acute intermittent, 176000 Acute intermittent porphyria (Acute neuropathic porphyrias) Porphyria, acute intermittent, nonerythroid variant, 176000
Amber HMBS in Childhood onset hereditary spastic paraplegia Version 4.43 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukoencephalopathy, HP:0002352 hereditary spastic paraplegia, MONDO:0019064 Tags Q1_24_promote_green
Green HMBS in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	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 - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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, nonerythroid variant, 176000 Acute intermittent porphyria (Acute neuropathic porphyrias) Porphyria, acute intermittent, 176000
Green HMBS in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	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 Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 Q1_24_MOI
Red HMBS in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green HMBS in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Porphyria, acute intermittent, 176000 Porphyria, acute intermittent, nonerythroid variant, 176000
Green HMBS in Acute intermittent porphyria Version 1.1 Latest signed off version: v1.0 (14 Sep 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green