SPINK5

serine peptidase inhibitor, Kazal type 5
OMIM: 605010, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green SPINK5 in Severe multi-system atopic disease with high IgE Level 3: Atopy Level 2: Dermatological disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Netherton syndrome, 256500Atopy, 147050 Netherton syndrome Tags gene-therapy-trial
Green SPINK5 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Combined immunodeficiencies with associated or syndromic features Netherton syndrome 256500 Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive
Green SPINK5 in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Netherton syndrome, OMIM: 256500
Red SPINK5 in Epidermolysis bullosa and congenital skin fragility Level 2: Dermatology Version 2.13 Latest signed off version: v2.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Netherton syndrome, OMIM:256500
Green SPINK5 in Palmoplantar keratodermas Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Netherton Syndrome
Green SPINK5 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Netherton syndrome 256500 Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive Combined immunodeficiencies with associated or syndromic features Tags gene-therapy-trial early-onset
Red SPINK5 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert