Ectodermal dysplasia
Gene: RSPO4
RSPO4 (R-spondin 4)
EnsemblGeneIds (GRCh38): ENSG00000101282
EnsemblGeneIds (GRCh37): ENSG00000101282
OMIM: 610573, Gene2Phenotype
RSPO4 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000101282
EnsemblGeneIds (GRCh37): ENSG00000101282
OMIM: 610573, Gene2Phenotype
RSPO4 is in 4 panels
1 review
Catherine Snow (Genomics England)
RSPO4 is in OMIM and confirmed in Gene2Phenotype and sufficient number of unrelated individuals reported. Phenotype (absence of nails) is a little on the edge of panel but after discussion with clinical team RSPO4 rated as Green.Created: 3 Dec 2019, 10:57 a.m. | Last Modified: 3 Dec 2019, 10:57 a.m.
Panel Version: 0.31
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:RSPO4; 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: 0.21
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- OMIM
- 610573
- Clinvar variants
- Variants in RSPO4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Dec 2019, Gel status: 3
Set publications
Catherine Snow (Genomics England)Publications for gene: RSPO4 were set to
3 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: rspo4 has been classified as Green List (High Evidence).
2 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: RSPO4 was added gene: RSPO4 was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal