SPINK5

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green SPINK5 in Severe multi-system atopic disease with high IgE

Level 3: Atopy
Level 2: Dermatological disorders
Version 1.8

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 Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.7

review Not set
Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Netherton syndrome

Green SPINK5 in COVID-19 research


Level 2: Viral research
Version 1.79

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


Version 1.66
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Netherton syndrome, OMIM: 256500

Green SPINK5 in Epidermolysis bullosa and congenital skin fragility


Version 1.49
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Netherton syndrome, OMIM:256500

Green SPINK5 in Palmoplantar keratodermas


Version 1.9
Latest signed off version: v1.3 (15 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Netherton Syndrome

Green SPINK5 in Primary immunodeficiency


Version 2.468
Latest signed off version: v2.1 (24 Feb 2020)

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 Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.185
Latest signed off version: v2.5 (13 Feb 2020)

review Not set
Sources
  • Expert

Green SPINK5 in Severe Paediatric Disorders


Version 1.84

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Netherton syndrome, 256500