PanelApp (test)
  1. Genes and Genomic Entities
  2. MSMO1

MSMO1

methylsterol monooxygenase 1
OMIM: 607545, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MSMO1 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834
  • MONDO:0014793

Amber MSMO1 in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834)
  • MONDO:0014793

Green MSMO1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834
  • MONDO:0014793
  • Disorders of the metabolism of sterols

Green MSMO1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834
  • MONDO:0014793

Green MSMO1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834
  • MONDO:0014793

Green MSMO1 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
    • Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834
    • Disorders of the metabolism of sterols
    • MONDO:0014793

    Green MSMO1 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    • Genetic Health Queensland
    Phenotypes
    • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
    • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834