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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
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.107 SPECC1L Eleanor Williams Classified gene: SPECC1L as Green List (high evidence)
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.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.107 SPECC1L Eleanor Williams Gene: specc1l has been classified as Green List (High Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 SPECC1L Eleanor Williams Added phenotypes Opitz G/BBB syndrome type 2 for gene: SPECC1L
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.66 SPECC1L Eleanor Williams Publications for gene: SPECC1L were set to 25412741
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
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.65 SPECC1L Eleanor Williams Publications for gene: SPECC1L were set to 25412741
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
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:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 SPECC1L Eleanor Williams Source NHS GMS was added to SPECC1L.