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Severe Paediatric Disorders

Gene: MFSD2A

Green List (high evidence)

MFSD2A (major facilitator superfamily domain containing 2A)
EnsemblGeneIds (GRCh38): ENSG00000168389
EnsemblGeneIds (GRCh37): ENSG00000168389
OMIM: 614397, Gene2Phenotype
MFSD2A is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MFSD2A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Microcephaly 15, primary, autosomal recessive, 616486 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
OMIM
614397
Clinvar variants
Variants in MFSD2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Oct 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MFSD2A were changed from Microcephaly 15, primary, autosomal recessive, 616486 to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486

21 Feb 2020, Gel status: 3

Set mode of