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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 6 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) is an autosomal recessive disorder characterized by a spectrum of neurologic abnormalities apparent from early infancy. Affected individuals have impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death. Reported in individuals from 10 unrelated families, animal models present.
Created: 7 Feb 2025, 3:55 a.m. | Last Modified: 7 Feb 2025, 3:55 a.m.
Panel Version: 1.1460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 7 Feb 2025, 3:55 a.m.
Last Modified: 7 Feb 2025, 3:55 a.m.
Panel version: 1.1460

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486
OMIM
614397
Clinvar variants
Variants in MFSD2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mfsd2a has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MFSD2A were changed from Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MFSD2A were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MFSD2A was added gene: MFSD2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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, 616486 (3), Autosomal recessive