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  3. ELMOD2
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Familial pulmonary fibrosis

Gene: ELMOD2

Red List (low evidence)
ELMOD2 (ELMO domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000179387
EnsemblGeneIds (GRCh37): ENSG00000179387
OMIM: 610196, Gene2Phenotype
ELMOD2 is in 1 panel

2 reviews

Philip Molyneaux (Imperial College)

I don't know

Candidate gene only identified in one Finish cohort of 24 families, but no specific mutations
Created: 26 Apr 2017, 9:56 a.m.
Created: 26 Apr 2017, 9:56 a.m.

Panel version: 0.110

Alice Gardham (Genomics England)

Comment when marking as ready: Candidate gene for pulmonary fibrosis in Finnish population. No mutations identified
Created: 8 Feb 2017, 5:58 p.m.
Created: 8 Feb 2017, 5:58 p.m.

Panel version: 0.34

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
  • Pulmonary Disease
OMIM
610196
Clinvar variants
Variants in ELMOD2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

8 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

8 Feb 2017, Gel status: 1

Set publications

Alice Gardham (Genomics England)

Publications for ELMOD2 were set to 16773575

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ELMOD2 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ELMOD2 was created by ellenmcdonagh