Epidermolysis bullosa
Gene: SPINK5EnsemblGeneIds (GRCh38): ENSG00000133710
EnsemblGeneIds (GRCh37): ENSG00000133710
OMIM: 605010, Gene2Phenotype
SPINK5 is in 12 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels.
Typically caused by either homozygous or compound heterozygous mutations.
PMID: 19683336
9 unrelated children with Comel-Netherton syndrome with homozygous mutations in SPINK5.
Sources: OtherCreated: 23 Jun 2023, 7:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Netherton syndrome (MIM#256500)
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Netherton syndrome (MIM#256500)
- OMIM
- 605010
- Clinvar variants
- Variants in SPINK5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Palmoplantar Keratoderma and Erythrokeratoderma
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Hair disorders
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- Ichthyosis
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Epidermolysis bullosa
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: spink5 has been classified as Green List (High Evidence).
Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)Mode of pathogenicity for gene: SPINK5 was changed from Other to None
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: spink5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Sangavi Sivagnanasundram (Melbourne Health)gene: SPINK5 was added gene: SPINK5 was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINK5 were set to 19683336 Phenotypes for gene: SPINK5 were set to Netherton syndrome (MIM#256500) Mode of pathogenicity for gene: SPINK5 was set to Other Review for gene: SPINK5 was set to GREEN