Palmoplantar keratodermas

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

Ivone Leong (Genomics England Curator)

MOI should be changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "Biallelic". There does not appear to be any evidence of monoallelic variants causing disease.
Created: 11 Oct 2021, 2:21 p.m. | Last Modified: 11 Oct 2021, 2:21 p.m.
Panel Version: 1.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.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: 28 Jan 2019, 10:47 a.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Netherton Syndrome
Tags
Q4_21_MOI
OMIM
605010
Clinvar variants
Variants in SPINK5
Penetrance
None
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_MOI tag was added to gene: SPINK5.

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to SPINK5.

28 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SPINK5 was added gene: SPINK5 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SPINK5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPINK5 were set to Netherton Syndrome