Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: APC

Green List (high evidence)

APC (APC, WNT signaling pathway regulator)
EnsemblGeneIds (GRCh38): ENSG00000134982
EnsemblGeneIds (GRCh37): ENSG00000134982
OMIM: 611731, Gene2Phenotype
APC is in 16 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: APC; Recommended initial gene rating: Green List (high evidence); Phenotypes: Adenomatous polyposis coli, 175100 (3) | Brain tumor-polyposis syndrome 2, 175100 (3) | Desmoid disease, hereditary, 135290 (3) | Gardner syndrome, 175100 (3) ; Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene APC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene APC were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Adenomatous polyposis coli, 175100; Desmoid disease, hereditary, 135290; Gardner syndrome, 175100 for gene: APC

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Adenomatous polyposis coli, 175100; Desmoid disease, hereditary, 135290; Gardner syndrome, 175100 for gene: APC

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Adenomatous polyposis coli, 175100; Desmoid disease, hereditary, 135290; Gardner syndrome, 175100 for gene: APC

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Desmoid disease, hereditary, 135290; Adenomatous polyposis coli, 175100; Gardner syndrome, 175100 for gene: APC

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to APC.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to APC. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: APC was added gene: APC was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: APC was set to