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Ectodermal dysplasia v0.33 RSPO4 Catherine Snow Publications for gene: RSPO4 were set to
Ectodermal dysplasia v0.32 RSPO4 Catherine Snow Classified gene: RSPO4 as Green List (high evidence)
Ectodermal dysplasia v0.32 RSPO4 Catherine Snow Gene: rspo4 has been classified as Green List (High Evidence).
Ectodermal dysplasia v0.31 RSPO4 Catherine Snow edited their review of gene: RSPO4: Added comment: 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.; Changed rating: GREEN; Changed publications: 17914448, 18070203
Ectodermal dysplasia v0.21 RSPO4 Catherine Snow reviewed gene: RSPO4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ectodermal dysplasia v0.15 RSPO4 Catherine Snow 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