PanelApp
  1. Genes and Genomic Entities
  2. SPINK5

SPINK5

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

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green SPINK5 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.22

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Netherton syndrome (MIM#256500)

Green SPINK5 in Ichthyosis


Level 2: Dermatological disorders
Version 1.13

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Netherton syndrome MIM#256500

Green SPINK5 in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Netherton syndrome MIM# 256500

Green SPINK5 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.136

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Netherton syndrome (MIM#256500)

Green SPINK5 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews 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

    Red SPINK5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Netherton syndrome
    • OMIM #256500

    Green SPINK5 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Netherton syndrome, 256500 (3)

    Green SPINK5 in Hair disorders


    Level 2: Dermatological disorders
    Version 0.81

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Netherton syndrome, 256500

    Green SPINK5 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Netherton syndrome 1
    • Netherton syndrome

    Green SPINK5 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Netherton syndrome MIM#256500

    Red SPINK5 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Netherton syndrome MIM# 256500

    Green SPINK5 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Netherton syndrome, MIM#256500