Familial Meniere Disease
Gene: PTPN22

PTPN22 (protein tyrosine phosphatase, non-receptor type 22)
EnsemblGeneIds (GRCh38): ENSG00000134242
EnsemblGeneIds (GRCh37): ENSG00000134242
OMIM: 600716, Gene2Phenotype
PTPN22 is in 3 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: Lopez-Escamez et al 2010 (PMID:19780033) reported a significant association between SNV rs2476601 in PTPN22 and 52 patients with Bilateral Meniere Disease in a case control study but Reviewer reports this was not confirmed in replication studies. No other reports of association in OMIM, Gene2Phenotype or PubMed searches. Therefore leaving this gene rating as red.
Created: 21 Mar 2018, 3:13 p.m.

Created: 21 Mar 2018, 3:13 p.m.

Panel version: 0.47

Jose Antonio Lopez-Escamez (Center for Genomic GENyO)

This gene is not associated with bilateral MD, since replication studies did not confirm it.
Created: 20 Feb 2018, 6 p.m.

Created: 20 Feb 2018, 6 p.m.

Panel version: 0.17

Details

Sources

Expert Review Red
Literature

OMIM

600716

Clinvar variants

Variants in PTPN22

Penetrance

None

Publications

Panels with this gene