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Hearing loss

Gene: APAF1

Red List (low evidence)

APAF1 (apoptotic peptidase activating factor 1)
EnsemblGeneIds (GRCh38): ENSG00000120868
EnsemblGeneIds (GRCh37): ENSG00000120868
OMIM: 602233, Gene2Phenotype
APAF1 is in 1 panel

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

APAF1 is not associated with a phenotype entry in OMIM.
Created: 9 Feb 2016, 10:05 a.m.
APAF1 is not associated with a phenotype entry in OMIM.
Created: 7 Feb 2016, 3:39 p.m.

Publications

Details

Sources
  • Expert
OMIM
602233
Clinvar variants
Variants in APAF1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

APAF1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert