Malformations of cortical development
Gene: MCF2Comment 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
Single individual reported, inherited missense variant from unaffected mother, some support from mouse model.
Sources: LiteratureCreated: 3 Aug 2020, 11:09 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Perisylvian polymicrogyria
Publications
Gene: mcf2 has been classified as Red List (Low Evidence).
Phenotypes for gene: MCF2 were changed from Perisylvian polymicrogyria to Perisylvian polymicrogyria; bilateral perisylvian polymicrogyria, MONDO:0020340
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