Severe microcephaly
Gene: MFSD2AComment on publications: Added publications to support this gene-disease associationCreated: 28 Oct 2020, 2:57 p.m. | Last Modified: 28 Oct 2020, 2:57 p.m.
Panel Version: 2.37
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Mutations identified in at least three families and supported by animal models. Recognised on G2PCreated: 12 Jan 2017, 11:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 15, primary, autosomal recessive 616486
Publications
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
Publications for gene: MFSD2A were set to 12046007
Source NHS GMS was added to MFSD2A.
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.
This gene has been classified as Green List (High Evidence).
Publications for MFSD2A were set to 12046007
This gene has been classified as Green List (High Evidence).
MFSD2A was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
MFSD2A was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
MFSD2A was created by rfoulger