MOCS2

molybdenum cofactor synthesis 2
OMIM: 603708, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green MOCS2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Molybdenum cofactor deficiency B MIM#252160

Green MOCS2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Molybdenum cofactor deficiency B MIM#252160
  • Disorders of molybdenum cofactor metabolism

Green MOCS2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Molybdenum cofactor deficiency B MIM#252160

    Green MOCS2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green MOCS2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Molybdenum cofactor deficiency B, 252160 (3)

    Green MOCS2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Molybdenum cofactor deficiency

    Green MOCS2 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.46

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Molybdenum cofactor deficiency B MIM#252160
    • Disorders of molybdenum cofactor metabolism

    Green MOCS2 in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.45

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009644
    • Disorders of molybdenum cofactor metabolism

    Green MOCS2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Molybdenum cofactor deficiency B (MIM#252160)

    Green MOCS2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Molybdenum cofactor deficiency B, 252160 (3)

    Red MOCS2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Molybdenum cofactor deficiency B, MIM#252160

    Green MOCS2 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Molybdenum cofactor deficiency B, 252160 (3)