SPINK5

serine peptidase inhibitor Kazal type 5
OMIM: 605010, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SPINK5 in Epidermolysis bullosa Level 2: Dermatological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Expert Review Green Phenotypes Netherton syndrome (MIM#256500)
Green SPINK5 in Ichthyosis and Porokeratosis Level 2: Dermatological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Netherton syndrome MIM#256500
Green SPINK5 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Netherton syndrome (MIM#256500)
Green SPINK5 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Australian Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green 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
Green SPINK5 in Hyper-IgE syndrome Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Phenotypes Netherton syndrome, MIM# 256500
Green SPINK5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Netherton syndrome, 256500 (3)
Green SPINK5 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Netherton syndrome 1 Netherton syndrome
Green SPINK5 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Netherton syndrome MIM#256500
Green SPINK5 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Netherton syndrome, MIM#256500