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  2. Polymicrogyria and Schizencephaly
  3. MCF2
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Polymicrogyria and Schizencephaly

Gene: MCF2

Red List (low evidence)
MCF2 (MCF.2 cell line derived transforming sequence)
EnsemblGeneIds (GRCh38): ENSG00000101977
EnsemblGeneIds (GRCh37): ENSG00000101977
OMIM: 311030, Gene2Phenotype
MCF2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported, inherited missense variant from unaffected mother, some support from mouse model.
Sources: Literature
Created: 3 Aug 2020, 5:33 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Perisylvian polymicrogyria

Publications

Created: 3 Aug 2020, 5:33 a.m.

Panel version: 0.90

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Perisylvian polymicrogyria
OMIM
311030
Clinvar variants
Variants in MCF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcf2 has been classified as Red List (Low Evidence).

3 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MCF2 was added gene: MCF2 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: MCF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MCF2 were set to 31846234 Phenotypes for gene: MCF2 were set to Perisylvian polymicrogyria Review for gene: MCF2 was set to RED