Epidermolysis bullosa and congenital skin fragility
Gene: EXPH5

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: Imported from Epidermolysis bullosa 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: Imported from Epidermolysis bullosa panel version 0.50

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Epidermolysis bullosa, nonspecific, autosomal recessive, OMIM:615028

OMIM

612878

Clinvar variants

Variants in EXPH5

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: EXPH5 were changed from Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Epidermolysis bullosa simplex to Epidermolysis bullosa, nonspecific, autosomal recessive, OMIM:615028

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: EXPH5 was added gene: EXPH5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: EXPH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXPH5 were set to 23176819; 27730671; 26719633 Phenotypes for gene: EXPH5 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Epidermolysis bullosa simplex

Epidermolysis bullosa and congenital skin fragility Gene: EXPH5