1. Genes and Genomic Entities
  2. MFSD2A

MFSD2A

major facilitator superfamily domain containing 2A
OMIM: 614397, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green MFSD2A in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
Green MFSD2A in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
Green MFSD2A in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Microcephaly 15, primary, autosomal recessive, 616486
    Green MFSD2A in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486