Malformations of cortical development
Gene: APC2
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 3:13 p.m. | Last Modified: 8 Mar 2022, 3:13 p.m.
Panel Version: 2.131
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 25 Jan 2021, 4:18 p.m. | Last Modified: 25 Jan 2021, 4:18 p.m.
Panel Version: 2.40
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 9 variants in 8 unrealated cases of Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay (PMID 31585108).Created: 25 Jan 2021, 4:17 p.m. | Last Modified: 25 Jan 2021, 4:17 p.m.
Panel Version: 2.39
12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Expert listCreated: 24 Aug 2020, 11:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: APC2.
Source Expert Review Green was added to APC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were changed from Cortical dysplasia, complex, with other brain malformations 10, MIM#618677 to Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677
Gene: apc2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: APC2.
gene: APC2 was added gene: APC2 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APC2 were set to 31585108 Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677 Review for gene: APC2 was set to GREEN gene: APC2 was marked as current diagnostic