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Fetal anomalies

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
OMIM
614397
Clinvar variants
Variants in MFSD2A
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: MFSD2A was added gene: MFSD2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFSD2A were set to MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE