Description
This is a template panel for demo. Please note that the information provided are examples and not necessarily a reflection of real data from the different sources.

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • ClinGen (Gene-Disease Clinical Validity Curation)

    Group: GENE consortium member
    Workplace: Other

  • OMIM (Johns Hopkins University)

    Group: GENE consortium member
    Workplace: Other

  • Orphanet (Gene-Disease relationships)

    Group: GENE consortium member
    Workplace: Other

  • Gene 2Phenotype (Decipher)

    Group: GENE consortium member
    Workplace: Other

  • Myriad Genetics (Gene-Disease curation)

    Group: GENE consortium member
    Workplace: Industry

  • Ambry Genetics (Gene-Disease curation)

    Group: GENE consortium member
    Workplace: Industry

  • Invitae (Gene-Disease curation)

    Group: GENE consortium member
    Workplace: Industry

  • Illumina (Gene-Disease curation)

    Group: GENE consortium member
    Workplace: Industry

  • Genomics England PanelApp (Gene-Disease curation)

    Group: GENE consortium member
    Workplace: Other

1 Entities

1 reviewed, 1 green

List Entity Reviews Mode of inheritance Details
1 Entities
Green Green List (high evidence)
CHD7
10 reviews
6 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • CHARGE syndrome
  • MONDO:0008965
  • CHARGE syndrome 214800
Tags
  • refuted

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