Intellectual disability
Gene: MFSD2A

MFSD2A (major facilitator superfamily domain containing 2A)
EnsemblGeneIds (GRCh38): ENSG00000168389
EnsemblGeneIds (GRCh37): ENSG00000168389
OMIM: 614397, Gene2Phenotype
MFSD2A is in 4 panels

5 reviews

Sarah Leigh (Genomics England Curator)

After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.

Panel Version: 3.1510

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.

Panel Version: 3.1510

Created: 9 Mar 2022, 3:40 p.m.
Last Modified: 9 Mar 2022, 3:40 p.m.
Panel version: 3.1510

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence for this gene to be rated Green at the next GMS panel update.
Created: 28 Oct 2020, 2:56 p.m. | Last Modified: 28 Oct 2020, 2:56 p.m.

Panel Version: 3.498

Associated with phenotype in OMIM, and a 'confirmed' gene for 'Microcephaly 15, primary, autosomal recessive' in Gene2Phenotype.

Distinct biallelic variants identified in at least 27 patients from 12 unrelated families. Affected individuals exhibit a complex neurodevelopmental phenotype primarily characterised by progressive microcephaly, severe intellectual disability, brain MRI abnormalities, spasticity, and speech delay. Other less common features also include axial hypotonia, talipes equinovarus, and seizures. Pathogenicity supported by animal models.
Created: 28 Oct 2020, 2:50 p.m. | Last Modified: 28 Oct 2020, 2:50 p.m.

Panel Version: 3.494

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486

Publications

Created: 28 Oct 2020, 2:50 p.m.
Last Modified: 28 Oct 2020, 2:50 p.m.
Panel version: 3.494

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families and two animal models.
Created: 7 Mar 2020, 7:29 a.m. | Last Modified: 7 Mar 2020, 7:29 a.m.

Panel Version: 3.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 15, primary, autosomal recessive, MIM# 616486

Publications

Created: 7 Mar 2020, 7:29 a.m.
Last Modified: 7 Mar 2020, 7:29 a.m.
Panel version: 3.3

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : NA
Created: 27 Jul 2017, 7:31 p.m.

Mode of inheritance
Unknown

Publications

25529582

Created: 2 Aug 2017, 8:28 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 1:17 p.m.

Created: 28 Jul 2017, 1:17 p.m.

Panel version: 1.298

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486

OMIM

614397

Clinvar variants

Variants in MFSD2A

Penetrance

Complete

Publications

Panels with this gene