APC

APC regulator of Wnt signaling pathway
OMIM: 611731, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green APC in Incidentalome


Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adenomatous polyposis coli, MIM# 175100
Tags
  • treatable
  • cancer

Green APC in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green APC in Additional findings_Adult


Level 2: Screening
Version 3.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Adenomatous polyposis coli, MIM# 175100

Red APC in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, APC-related

Green APC in Medulloblastoma


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • SA Pathology
Phenotypes
  • Medulloblastoma, MONDO:0007959
  • Familial adenomatous polyposis 1, MONDO:0021056
  • Adenomatous polyposis coli, MIM#175100

Green APC in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Adenomatous polyposis coli
  • Adenomatous polyposis coli, attenuated

Green APC in Incidentalome_PREGEN_DRAFT


Version 1.0

1 review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Red APC in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Adenomatous polyposis coli, MIM# 175100
Tags
  • treatable
  • cancer

Green APC in Facial papules


Level 2: Dermatological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Classic or attenuated familial adenomatous polyposis MONDO:0021057

Green APC in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Adenomatous polyposis coli, MIM# 175100

Green APC in Thyroid Cancer


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Thyroid cancer, MONDO:0002108
  • Thyroid gland papillary carcinoma, MONDO:0005075
  • Familial adenomatous polyposis 1, MONDO:0021056
  • Adenomatous polyposis coli, MIM#175100

Green APC in Colorectal Cancer and Polyposis


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • APC-related attenuated familial adenomatous polyposis, MONDO:0016613
  • Classic familial adenomatous polyposis, MONDO:0021055
  • Familial adenomatous polyposis 1, MONDO:0021056
  • Adenomatous polyposis coli, MIM#175100