Epidermolysis bullosa and congenital skin fragility
Gene: SPINK5EnsemblGeneIds (GRCh38): ENSG00000133710
EnsemblGeneIds (GRCh37): ENSG00000133710
OMIM: 605010, Gene2Phenotype
SPINK5 is in 7 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Catherine Snow (Genomics England)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Netherton syndrome, OMIM:256500
- OMIM
- 605010
- Clinvar variants
- Variants in SPINK5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_22_rating was removed from gene: SPINK5. Tag Q3_22_expert_review was removed from gene: SPINK5.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)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)
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_22_rating tag was added to gene: SPINK5.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_22_expert_review tag was added to gene: SPINK5.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM:256500
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SPINK5 were set to
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: spink5 has been classified as Green List (High Evidence).
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