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Intellectual disability

Gene: MFSD2A

Amber List (moderate evidence)

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

4 reviews

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

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

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

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
Tags
for-review
OMIM
614397
Clinvar variants
Variants in MFSD2A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: mfsd2a has been classified as Amber List (Moderate Evidence).

28 Oct 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MFSD2A were changed from NA to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486

28 Oct 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MFSD2A were set to

28 Oct 2020, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: MFSD2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: MFSD2A.

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

MFSD2A was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

MFSD2A was created by BRIDGE