21 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.108
SPECC1L
Eleanor Williams Phenotypes for gene: SPECC1L were changed from Opitz G/BBB syndrome type 2 to Opitz GBBB syndrome, type II 145410
21 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.107
SPECC1L
Eleanor Williams Classified gene: SPECC1L as Green List (high evidence)
21 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.107
SPECC1L
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.
21 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.107
SPECC1L
Eleanor Williams Gene: specc1l has been classified as Green List (High Evidence).
11 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72
SPECC1L
Eleanor Williams Added phenotypes Opitz G/BBB syndrome type 2 for gene: SPECC1L
02 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.66
SPECC1L
Eleanor Williams Publications for gene: SPECC1L were set to 25412741
02 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.65
SPECC1L
Eleanor Williams Added comment: Comment on publications: Kruska et al 2015 PMID: 25412741, Bhoj et al 2015 PMID: 26111080
02 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.65
SPECC1L
Eleanor Williams Publications for gene: SPECC1L were set to 25412741
05 Mar 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47
SPECC1L
Tracy Lester reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Opitz G/BBB syndrome type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Mar 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46
SPECC1L
Eleanor Williams reviewed gene: SPECC1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Mar 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45
SPECC1L
Eleanor Williams Source NHS GMS was added to SPECC1L.