Epidermolysis bullosa and congenital skin fragility
Gene: SPINK5
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 2:27 p.m. | Last Modified: 31 Jan 2023, 2:27 p.m.
Panel Version: 1.57
Flagging for GMS expert evaluation following Red review by Zornitza Stark highlighting the phenotype may not be within the scope of this panel although previously determined relevant. Clinically characterised by congenital ichthyosiform erythroderma rather than skin fragility.Created: 13 Jul 2022, 10:17 a.m. | Last Modified: 13 Jul 2022, 10:17 a.m.
Panel Version: 1.51
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
Phenotypes
Netherton syndrome (MIM#256500)
Publications
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
Tag Q3_22_rating was removed from gene: SPINK5. Tag Q3_22_expert_review was removed from gene: SPINK5.
Source NHS GMS was added to SPINK5. Source Expert Review Red was added to SPINK5. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q3_22_rating tag was added to gene: SPINK5.
Tag Q3_22_expert_review tag was added to gene: SPINK5.
Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM:256500
Publications for gene: SPINK5 were set to
Gene: spink5 has been classified as Green List (High Evidence).
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