Description
This is the list of genes for reporting back additional findings according to the Annex No.1 document.

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

14 Entities

14 reviewed, 13 green

List Entity Reviews Mode of inheritance Details
14 Entitiess
Green Green List (high evidence)
APC
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ACMG
  • Additional Findings
  • Expert Review Green
Phenotypes
  • ENST00000257430.8
  • Bowel cancer predisposition
  • Familial Adenomatous Polyposis
  • Adult and child
Tags
Green Green List (high evidence)
APOB
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • ENST00000233242.5
  • Familial hypercholesterolaemia
  • Adult and child
Tags
Green Green List (high evidence)
BRCA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ACMG
  • Additional Findings
  • Expert Review Green
Phenotypes
  • ENST00000357654.8
  • Breast and ovarian cancer predisposition
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
BRCA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ACMG
  • Additional Findings
  • Expert Review Green
Phenotypes
  • ENST00000544455.5
  • Breast and ovarian cancer predisposition
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
LDLR
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ACMG
  • Additional Findings
  • Expert Review Green
Phenotypes
  • ENST00000558518.5
  • Familial hypercholesterolaemia
  • Adult and child
Tags
Green Green List (high evidence)
MEN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ACMG
  • Additional Findings
  • Expert Review Green
Phenotypes
  • ENST00000394374.6
  • Other cancer predisposition
  • Myltiple endocrine Neoplasia Type 1
  • Adult and child
Tags
Green Green List (high evidence)
MLH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ACMG
  • Additional Findings
  • Expert Review Green
Phenotypes
  • ENST00000231790.6
  • Bowel cancer predisposition
  • Hereditary non-polyposis colorectal cancer
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
MSH2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ACMG
  • Additional Findings
  • Expert Review Green
Phenotypes
  • ENST00000233146.6
  • Bowel cancer predisposition
  • Hereditary non-polyposis colorectal cancer
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
MSH6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ACMG
  • Additional Findings
  • Expert Review Green
Phenotypes
  • ENST00000234420.9
  • Bowel cancer predisposition
  • Hereditary non-polyposis colorectal cancer
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
MUTYH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ACMG
  • Additional Findings
  • Expert Review Green
Phenotypes
  • ENST00000450313.5
  • Bowel cancer predisposition
  • MYH-associated polyposis
  • Adult only
Tags
  • adult-onset
Green Green List (high evidence)
PCSK9
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ACMG
  • Additional Findings
  • Expert Review Green
Phenotypes
  • ENST00000302118.5
  • Familial hypercholesterolaemia
  • Adult and child
Tags
Green Green List (high evidence)
RET
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • ENST00000355710.7
  • Other cancer predisposition
  • Myltiple endocrine Neoplasia Type 2
  • Adult and child
Tags
Green Green List (high evidence)
VHL
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ACMG
  • Additional Findings
  • Expert Review Green
Phenotypes
  • ENST00000256474.2
  • Other cancer predisposition
  • Von Hippel Lindau Syndrome
  • Adult and child
Tags
No list No list
CFTR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Carrier Status
  • Expert Review Removed
Phenotypes
  • ENST00000003084.10
  • Carrier status
  • Cystic Fibrosis
  • Adult-only
Tags
  • adult-onset

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