21 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.99
FAM20C
Eleanor Williams Phenotypes for gene: FAM20C were changed from Raine syndrome to Raine syndrome 259775
21 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.98
FAM20C
Eleanor Williams Mode of inheritance for gene: FAM20C was changed from to BIALLELIC, autosomal or pseudoautosomal
21 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.97
FAM20C
Eleanor Williams Classified gene: FAM20C as Green List (high evidence)
21 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.97
FAM20C
Eleanor Williams Added comment: Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. Andrew Wilkie of Wessex and West Midlands GLH confirmed several unpublished cases.
21 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.97
FAM20C
Eleanor Williams Gene: fam20c has been classified as Green List (High Evidence).
02 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.58
FAM20C
Eleanor Williams Phenotypes for gene: FAM20C were changed from to Raine syndrome
02 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.57
FAM20C
Eleanor Williams Publications for gene: FAM20C were set to
05 Mar 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47
FAM20C
Tracy Lester reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Raine syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Mar 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46
FAM20C
Eleanor Williams reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Mar 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45
FAM20C
Eleanor Williams Source NHS GMS was added to FAM20C.