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  3. SPINK5
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Hair disorders

Gene: SPINK5

Green List (high evidence)
SPINK5 (serine peptidase inhibitor, Kazal type 5)
EnsemblGeneIds (GRCh38): ENSG00000133710
EnsemblGeneIds (GRCh37): ENSG00000133710
OMIM: 605010, Gene2Phenotype
SPINK5 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Netherton syndrome MIM# 256500

Created: 6 Apr 2022, 8:29 a.m.
Last Modified: 6 Apr 2022, 8:29 a.m.
Panel version: Imported from Mendeliome panel version 0.12615

Danielle Ariti (University of Melbourne)

Well-established gene-disease association; over 30 pathogenic variants reported in individuals with NS phenotype; multiple mouse models

Homozygous and compound heterozygous (del, dup, nonsense, splice site and frameshift) variants reported.

Clinically present in infancy with bamboo hair, recurrent skin infections, food allergies and elevated IgE levels.
Created: 12 Aug 2021, 5:26 a.m. | Last Modified: 12 Aug 2021, 5:26 a.m.
Panel Version: 0.8767

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Netherton syndrome MIM# 256500; Low switched and non-switched B cells; High IgE and IgA; Antibody variably decreased; Congenital ichthyosis; bamboo hair; atopic diathesis; increased bacterial infections; failure to thrive; food allergies

Publications

Created: 12 Aug 2021, 5:26 a.m.
Last Modified: 12 Aug 2021, 5:26 a.m.
Panel version: Imported from Mendeliome panel version 0.8767

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Netherton syndrome, 256500
OMIM
605010
Clinvar variants
Variants in SPINK5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SPINK5 was added gene: SPINK5 was added to Hair disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINK5 were set to 31332722 Phenotypes for gene: SPINK5 were set to Netherton syndrome, 256500