1. Panels
  2. Palmoplantar keratodermas
  3. RSPO1
STRs in panel
Prev Next
Regions in panel
Prev Next

Palmoplantar keratodermas

Gene: RSPO1

Green List (high evidence)
RSPO1 (R-spondin 1)
EnsemblGeneIds (GRCh38): ENSG00000169218
EnsemblGeneIds (GRCh37): ENSG00000169218
OMIM: 609595, Gene2Phenotype
RSPO1 is in 4 panels

1 review

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: RSPO1; 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.
Created: 28 Jan 2019, 10:47 a.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma
OMIM
609595
Clinvar variants
Variants in RSPO1
Penetrance
None
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to RSPO1.

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: RSPO1 was added gene: RSPO1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RSPO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPO1 were set to Palmoplantar keratoderma