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  3. MFSD2A
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Microcephaly

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.
Created: 7 Mar 2020, 7:32 a.m. | Last Modified: 7 Mar 2020, 7:32 a.m.
Panel Version: 0.95

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 7 Mar 2020, 7:32 a.m.
Last Modified: 7 Mar 2020, 7:32 a.m.
Panel version: 0.95

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 15, primary, autosomal recessive, MIM# 616486
OMIM
614397
Clinvar variants
Variants in MFSD2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2020, 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 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MFSD2A were changed from to Microcephaly 15, primary, autosomal recessive, MIM# 616486

7 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MFSD2A were set to

7 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MFSD2A was added gene: MFSD2A was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MFSD2A was set to Unknown