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  3. MCF2
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Malformations of cortical development

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 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Created: 17 Aug 2021, 1:29 p.m. | Last Modified: 17 Aug 2021, 1:29 p.m.
Panel Version: 2.53
Created: 17 Aug 2021, 1:29 p.m.
Last Modified: 17 Aug 2021, 1:29 p.m.
Panel version: 2.53

Zornitza Stark (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, 11:09 a.m.

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

Phenotypes
Perisylvian polymicrogyria

Publications

Created: 3 Aug 2020, 11:09 a.m.

Panel version: 2.7

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Perisylvian polymicrogyria
  • bilateral perisylvian polymicrogyria, MONDO:0020340
OMIM
311030
Clinvar variants
Variants in MCF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

17 Aug 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MCF2 were changed from Perisylvian polymicrogyria to Perisylvian polymicrogyria; bilateral perisylvian polymicrogyria, MONDO:0020340

3 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: MCF2 was added gene: MCF2 was added to Malformations of cortical development. 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