Severe microcephaly

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 4 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in at least three families and supported by animal models. Recognised on G2P
12 Jan 2017, 11:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 15, primary, autosomal recessive 616486

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Microcephaly 15, primary, autosomal recessive, 616486
OMIM
614397
Clinvar variants
Variants in MFSD2A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for MFSD2A were set to 12046007

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

13 Dec 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

MFSD2A was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

MFSD2A was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

MFSD2A was created by rfoulger