Epidermolysis bullosa and congenital skin fragility

Gene: SPINK5

Green List (high evidence)

SPINK5 (serine peptidase inhibitor, Kazal type 5)
EnsemblGeneIds (GRCh38): ENSG00000133710
EnsemblGeneIds (GRCh37): ENSG00000133710
OMIM: 605010, Gene2Phenotype
SPINK5 is in 9 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Well-established gene-disease association (144 families with homozygous/compound heterozygous variants reviewed in PMID: 27905021). However, the classical presentation is with severe congenital ichthyosis and hair abnormalities. I cannot find evidence of blistering/skin fragility being reported.
Created: 11 Aug 2020, 2:07 a.m. | Last Modified: 11 Aug 2020, 2:07 a.m.
Panel Version: 1.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Netherton syndrome (MIM#256500)


Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team SPINK5 can be classified as Green.
Created: 4 Dec 2019, 10:34 a.m. | Last Modified: 4 Dec 2019, 10:34 a.m.
Panel Version: 0.24
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:SPINK5; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.15

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM:256500

24 Mar 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SPINK5 were set to

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: spink5 has been classified as Green List (High Evidence).

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: SPINK5 was added gene: SPINK5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal