Combined Immunodeficiency
Gene: SPINK5EnsemblGeneIds (GRCh38): ENSG00000133710
EnsemblGeneIds (GRCh37): ENSG00000133710
OMIM: 605010, Gene2Phenotype
SPINK5 is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Netherton syndrome is characterised by congenital ichthyosis with defective cornification, a specific hair shaft defect ('bamboo hair'), and severe atopic manifestations. Hyper IgE is a feature. Multiple families reported.Created: 24 Aug 2021, 5:28 a.m. | Last Modified: 24 Aug 2021, 5:28 a.m.
Panel Version: 0.30
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Netherton syndrome, MIM# 256500
Publications
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, 2:28 a.m. | Last Modified: 12 Aug 2021, 2:28 a.m.
Panel Version: 0.309
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Immunology Flagship
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- 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
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spink5 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SPINK5 were changed from to 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SPINK5 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SPINK5 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: SPINK5 was added gene: SPINK5 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: SPINK5 was set to Unknown