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  3. EXPH5
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Epidermolysis bullosa

Gene: EXPH5

Green List (high evidence)
EXPH5 (exophilin 5)
EnsemblGeneIds (GRCh38): ENSG00000110723
EnsemblGeneIds (GRCh37): ENSG00000110723
OMIM: 612878, Gene2Phenotype
EXPH5 is in 4 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa simplex

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status from Red to Green based on expert reviewer suggestion and evidence in the literature
Created: 21 Apr 2017, 12:53 p.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases : Epidermolysis bullosa simplex
Created: 21 Apr 2017, 12:53 p.m.
Comment on phenotypes: reformatted and added suggestions from expert reviewer
Created: 21 Apr 2017, 12:50 p.m.
Created: 21 Apr 2017, 12:50 p.m.

Panel version: 0.50

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Epidermolysis bullosa, nonspecific, autosomal recessive, 615028
  • Epidermolysis bullosa simplex
OMIM
612878
Clinvar variants
Variants in EXPH5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

21 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Apr 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for EXPH5 were set to 23176819;26719633;27730671

21 Apr 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for EXPH5 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028;Epidermolysis bullosa simplex

21 Apr 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for EXPH5 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028

21 Apr 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for EXPH5 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EXPH5 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EXPH5 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EXPH5 was created by ellenmcdonagh