Epidermolysis bullosa
Gene: SERPINB8
SERPINB8 (serpin family B member 8)
EnsemblGeneIds (GRCh38): ENSG00000166401
EnsemblGeneIds (GRCh37): ENSG00000166401
OMIM: 601697, Gene2Phenotype
SERPINB8 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000166401
EnsemblGeneIds (GRCh37): ENSG00000166401
OMIM: 601697, Gene2Phenotype
SERPINB8 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID:27476651 describes 3 families with what they refer to as exfoliative ichthyosis. Histological analysis of a skin biopsy showed disadhesion of keratinocytes in the lower epidermal layers. In vitro studies showed that in the absence of the protein, there is a cell-cell adhesion defect, supportive of this being a skin fragility disorder. Phenotype sits between ichthyosis and skin fragility, hence rated Amber on this panel.
Sources: Expert listCreated: 11 Aug 2020, 2:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 5 (MIM#617115)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Peeling skin syndrome 5 (MIM#617115)
- OMIM
- 601697
- Clinvar variants
- Variants in SERPINB8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
11 Aug 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: serpinb8 has been classified as Amber List (Moderate Evidence).
11 Aug 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: serpinb8 has been classified as Amber List (Moderate Evidence).
11 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SERPINB8 was added gene: SERPINB8 was added to Epidermolysis bullosa. Sources: Expert list Mode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINB8 were set to 27476651 Phenotypes for gene: SERPINB8 were set to Peeling skin syndrome 5 (MIM#617115) Review for gene: SERPINB8 was set to AMBER