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Fetal anomalies

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families and two animal models.
Sources: Expert list
Created: 7 Mar 2020, 7:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, MIM# 616486
OMIM
614397
Clinvar variants
Variants in MFSD2A
Penetrance
None
Panels with this gene

History Filter Activity

28 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

28 Jan 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

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

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFSD2A were set to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486