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  3. APC2
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Malformations of cortical development

Gene: APC2

Green List (high evidence)
APC2 (APC2, WNT signaling pathway regulator)
EnsemblGeneIds (GRCh38): ENSG00000115266
EnsemblGeneIds (GRCh37): ENSG00000115266
OMIM: 612034, Gene2Phenotype
APC2 is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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
Created: 25 Jan 2021, 4:17 p.m.
Last Modified: 25 Jan 2021, 4:17 p.m.
Panel version: 2.131

Zornitza Stark (Australian Genomics)

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.
Sources: Expert list
Created: 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

Created: 24 Aug 2020, 11:01 a.m.

Panel version: 2.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677
OMIM
612034
Clinvar variants
Variants in APC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from gene: APC2.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to APC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 Jan 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: APC2 were set to 31585108

25 Jan 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

25 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: apc2 has been classified as Amber List (Moderate Evidence).

25 Jan 2021, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: APC2.

24 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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