MSMO1

methylsterol monooxygenase 1
OMIM: 607545, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red MSMO1 in Generalised pustular psoriasis

Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793

Amber MSMO1 in Ichthyosis and erythrokeratoderma


Version 1.60
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793

Green MSMO1 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.76
Latest signed off version: v2.2 (19 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793

Green MSMO1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.220
Latest signed off version: v2.2 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793

Green MSMO1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.469

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis)
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793

Green MSMO1 in Inborn errors of metabolism


Version 2.154
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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis)
    • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
    • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793

    Amber MSMO1 in Fetal anomalies


    Version 1.691
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
    • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
    Tags
    • for-review

    Green MSMO1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1201
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
    • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793

    Red MSMO1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.137
    Latest signed off version: v1.58 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • London North GLH

    Green MSMO1 in Severe Paediatric Disorders


    Version 1.81

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
    • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793