HMBS

hydroxymethylbilane synthase
OMIM: 609806, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red HMBS in White matter disorders and cerebral calcification - narrow panel


Version 1.88
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red

    Green HMBS in Non-acute porphyrias


    Version 1.21
    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 1.94

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list

    Green HMBS in Cutaneous photosensitivity with a likely genetic cause


    Version 1.7
    Latest signed off version: v1.3 (15 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Porphyria, acute intermittent, 176000
    • Acute intermittent porphyria (Acute neuropathic porphyrias)
    • Porphyria, acute intermittent, nonerythroid variant, 176000

    Green HMBS in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.457

    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 Inborn errors of metabolism


    Version 2.134
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.385

    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 NOT PMP22 copy number


    Version 1.25
    Latest signed off version: v1.2 (27 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy
    • Porphyria, acute intermittent, 176000

    Red HMBS in Childhood onset dystonia or chorea or related movement disorder


    Version 1.103
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green HMBS in Severe Paediatric Disorders


    Version 1.77

    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