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Prepair 1000+

Gene: APC2

No list

APC2 (APC2, WNT signaling pathway regulator)
EnsemblGeneIds (GRCh38): ENSG00000115266
EnsemblGeneIds (GRCh37): ENSG00000115266
OMIM: 612034, Gene2Phenotype
APC2 is in 6 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Upgrade to green at review
Created: 13 Mar 2025, 3 a.m. | Last Modified: 13 Mar 2025, 3 a.m.
Panel Version: 1.1575

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

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.
Definitive classification by ClinGen.
Mouse model present.

Note: Gene has also been implicated in Sotos Syndrome Type 3 which features intellectual disability and characteristic facial features
Sources: Literature
Created: 12 Mar 2025, 11:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cortical dysplasia, complex, with other brain malformations 10 MIM#618677; Intellectual developmental disorder, autosomal recessive 74 MIM#617169; Lissencephaly spectrum disorders MONDO:0018838

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 10 MIM#618677
  • Intellectual developmental disorder, autosomal recessive 74 MIM#617169
  • Lissencephaly spectrum disorders MONDO:0018838
Tags
for review
OMIM
612034
Clinvar variants
Variants in APC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Mar 2025, Gel status: 0

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: apc2 has been removed from the panel.

13 Mar 2025, Gel status: 0

Added Tag

Lilian Downie (Victorian Clinical Genetics Services)

Tag for review tag was added to gene: APC2.

12 Mar 2025, Gel status: 0

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

Andrew Coventry (Victorian Clinical Genetics Services)

gene: APC2 was added gene: APC2 was added to Prepair 1000+. Sources: Literature 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; Intellectual developmental disorder, autosomal recessive 74 MIM#617169; Lissencephaly spectrum disorders MONDO:0018838 Review for gene: APC2 was set to GREEN