Palmoplantar keratodermas
Gene: SPINK5EnsemblGeneIds (GRCh38): ENSG00000133710
EnsemblGeneIds (GRCh37): ENSG00000133710
OMIM: 605010, Gene2Phenotype
SPINK5 is in 7 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 2:38 p.m. | Last Modified: 31 Jan 2023, 2:38 p.m.
Panel Version: 2.6
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)
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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Netherton Syndrome
- OMIM
- 605010
- Clinvar variants
- Variants in SPINK5
- Penetrance
- None
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_MOI was removed from gene: SPINK5.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene SPINK5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_MOI tag was added to gene: SPINK5.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to SPINK5.
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