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This Panel is marked as Internal

Refuted genes (Version 0.14)


Panel types: Reference
Previous code: 597876f78f62037ff034648f
Description
Made internal in Sept 2025. Refuted genes will be publicaly displayed via the relevant panels. 


This is a list of gene-disease relationships that have been refuted. This panel was created to raise awareness of conflicting evidence or disease relationships that have been refuted. The specific disease is captured under 'phenotype'.

This gene may change, as new evidence arises.
Panel Activity

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

5 Entities

5 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
5 Entitiess
Red List (low evidence)
BDNF
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Central hypoventilation syndrome, congenital, 209880
Tags
Red List (low evidence)
FANCM
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Fanconi anemia, complementation group M, 614087
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Red List (low evidence)
LIPI
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • hypertriglyceridemia
Tags
Red List (low evidence)
RAD51C
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Fanconi anemia, complementation group O, 613390
Tags
Red List (low evidence)
TMPO
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
Phenotypes
  • Dilated Cardiomyopathy, 115200
Tags

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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