1. Genes and Genomic Entities
  2. MYRF

MYRF

myelin regulatory factor
OMIM: 608329, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green MYRF in Differences in sex development


Level 2: Endocrinology
Version 4.20
Latest signed off version: v4.5 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiac-urogenital syndrome, OMIM:618280
  • gonadal hypoplasia
  • Mullerian duct hypoplasia
Green MYRF in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.196
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Cardiac-urogenital syndrome, 618280
  • Congenital diaphragmatic hernia (CDH)
  • Disorders of sex development (DSD)
Green MYRF in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome
    Green MYRF in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.56

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Nanophthalmos
    • high hyperopia
    Green MYRF in Structural eye disease


    Level 2: Ophthalmology
    Version 4.43
    Latest signed off version: v4.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Nanophthalmos
    • High hyperopia