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Hearing loss

Gene: GJA1P1

Red List (low evidence)

GJA1P1 (gap junction protein alpha 1 pseudogene 1)
EnsemblGeneIds (GRCh38): ENSG00000176857
EnsemblGeneIds (GRCh37): ENSG00000176857
GJA1P1 is in 1 panel

3 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 3:19 p.m.

Jun Shen (Harvard Medical School)

Red List (low evidence)

Pseudogene
Created: 7 Feb 2016, 9:10 a.m.

Details

Sources
  • Expert
Tags
locus-type-pseudogene
Clinvar variants
Variants in GJA1P1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GJA1P1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert