Ectodermal dysplasiaGene: RSPO4
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 for gene: RSPO4 were set to
Gene: rspo4 has been classified as Green List (High Evidence).
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