PanelApp (staging)
  1. Genes and Genomic Entities
  2. HMBS

HMBS

hydroxymethylbilane synthase
OMIM: 609806, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green HMBS in Mendeliome


Version 1.2302

1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Porphyria, acute intermittent, MIM#176000
  • Porphyria, acute intermittent, non-erythroid variant, MIM#176000
  • Encephalopathy, porphyria-related MIM#620704
  • Leukoencephalopathy, porphyria-related, MIM#620711

Green HMBS in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.572

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, porphyria-related MIM#620704
  • Leukoencephalopathy, porphyria-related, MIM#620711

Green HMBS in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Encephalopathy, porphyria-related MIM#620704
  • Leukoencephalopathy, porphyria-related, MIM#620711

Green HMBS in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.318

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy, porphyria-related, MIM# 620711

    Green HMBS in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Porphyria, acute intermittent MIM#176000
    • MONDO:0008294

    Green HMBS in Haem degradation and bilirubin metabolism defects


    Level 2: Metabolic disorders
    Version 0.17

    Component of the following Super Panels:

  • Liverome Superpanel
  • Metabolic Disorders Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Porphyria, acute intermittent, 176000
    • Porphyria, acute intermittent, nonerythroid variant, 176000

    Green HMBS in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Porphyria, acute intermittent MIM#176000

    Red HMBS in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Porphyria, acute intermittent

    Red HMBS in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Porphyria, acute intermittent