Palmoplantar Keratoderma and Erythrokeratoderma
Gene: SPINK5EnsemblGeneIds (GRCh38): ENSG00000133710
EnsemblGeneIds (GRCh37): ENSG00000133710
OMIM: 605010, Gene2Phenotype
SPINK5 is in 12 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
Ichthyosiform erythroderma is a feature of Netherton syndrome
PMID: 11841556;
- cohort of 21 families with 26 affecteds (7 consanguineous)
- all except 1 presented with scaly erythroderma at birth
Sources: LiteratureCreated: 19 Aug 2020, 12:34 a.m. | Last Modified: 19 Aug 2020, 12:37 a.m.
Panel Version: 0.76
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Netherton syndrome (MIM#256500)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Netherton syndrome (MIM#256500)
- OMIM
- 605010
- Clinvar variants
- Variants in SPINK5
- Penetrance
- unknown
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spink5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spink5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: SPINK5 was added gene: SPINK5 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINK5 were set to 11841556 Phenotypes for gene: SPINK5 were set to Netherton syndrome (MIM#256500) Penetrance for gene: SPINK5 were set to unknown Review for gene: SPINK5 was set to GREEN