Familial Meniere Disease

Gene: DIAPH1

Red List (low evidence)

DIAPH1 (diaphanous related formin 1)
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 10 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: No evidence for association with Familial Meniere's disease at this time.
Created: 13 Mar 2018, 1:51 p.m.

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Sources
  • Expert Review Red
  • Literature
OMIM
602121
Clinvar variants
Variants in DIAPH1
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

27 Mar 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

External reviews collated. Internal clinical input. Ready for version 1.

13 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DIAPH1 were set to 28787010

31 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DIAPH1 were set to 28787010; 28787010

31 Jan 2018, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for DIAPH1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

17 Jan 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

DIAPH1 was added to Familial Meniere Disease panel. Sources: Literature

17 Jan 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

DIAPH1 was created by Eleanor Williams