This panel was made internal in September 2025. It has no value in being public since it was for a demo only. 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.
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
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1 Entities
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CHD7 |
10 reviews6 green 2 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
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