Epidermolysis bullosa
Gene: EXPH5EnsemblGeneIds (GRCh38): ENSG00000110723
EnsemblGeneIds (GRCh37): ENSG00000110723
OMIM: 612878, Gene2Phenotype
EXPH5 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 4 unrelated families reported.Created: 12 Feb 2021, 10:56 a.m. | Last Modified: 12 Feb 2021, 10:56 a.m.
Panel Version: 0.55
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028
- OMIM
- 612878
- Clinvar variants
- Variants in EXPH5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: exph5 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EXPH5 were changed from to Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: EXPH5 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: EXPH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EXPH5 was added gene: EXPH5 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EXPH5 was set to Unknown