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| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 | B3GAT3 |
Eleanor Williams Tag Q3_21_rating was removed from gene: B3GAT3. Tag Q3_21_NHS_review was removed from gene: B3GAT3. |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 | B3GAT3 | Eleanor Williams Tag for-review was removed from gene: B3GAT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.63 | B3GAT3 | Eleanor Williams commented on gene: B3GAT3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.62 | B3GAT3 |
Eleanor Williams Source Expert Review Green was added to B3GAT3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.60 | B3GAT3 | Eleanor Williams Tag Q3_21_NHS_review tag was added to gene: B3GAT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.31 | B3GAT3 | Eleanor Williams Tag Q3_21_rating tag was added to gene: B3GAT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.22 | B3GAT3 | Eleanor Williams Phenotypes for gene: B3GAT3 were changed from Craniosynostosis and bone fragility to Craniosynostosis and bone fragility; Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects OMIM:245600; Larsen-like syndrome, B3GAT3 type MONDO:0009511 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.21 | B3GAT3 | Eleanor Williams Publications for gene: B3GAT3 were set to 28771243 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.20 | B3GAT3 | Eleanor Williams Classified gene: B3GAT3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.20 | B3GAT3 | Eleanor Williams Added comment: Comment on list classification: Leaving the rating as amber for now, but with recommendation for green rating following GMS review. 3 independent cases with dolichocephaly/craniosynostosis reported and variants in B3GAT3. Cases from Morocco and India have a c.667G>A (p.Gly223Ser) variant but Ritelli et al 2019 reports an additional case with two different compound het variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.20 | B3GAT3 | Eleanor Williams Gene: b3gat3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.19 | B3GAT3 | Eleanor Williams Tag for-review tag was added to gene: B3GAT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.19 | B3GAT3 |
Eleanor Williams commented on gene: B3GAT3: As reported by 2 expert reviewers, PMID:31438591 (Ritelli et al 2019) report a further case of a patient with compound het missense changes (c.481C>T, p.(Arg161Trp) and c.889C>T (p.(Arg297Trp)) in B3GAT3 and a clinical presentation suggestive of spondylodysplastic Ehlers-Danlos syndrome which includes dolichocephaly. In Table 2 the paper lists the clinical features of all patients with B3GAT3 variants reported to date, however, some of these patients appear to have variants in AEBP1 (ENSG00000106624) rather than B3GAT3 (ENSG00000149541) e.g. PMID: 29606302 (reference 2 in the table). PMID: 31196143 - Colman et al 2019 - report an Indian boy with complex linkeropathy and phenotypic features that include dolichocephaly. He was found to have a homozygous variant in B3GAT3 (c.667G > A, p.(Gly223Ser)) that was previously reported by Yauy et al. Another patient with a B3GAT3 variant is reported but dolichocephaly is not noted. |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.19 | B3GAT3 | Helen Lord reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31438591; Phenotypes: craniosynostosis MIM245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.9 | B3GAT3 | Zornitza Stark reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31438591; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.119 | B3GAT3 | Eleanor Williams Classified gene: B3GAT3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.119 | B3GAT3 | Eleanor Williams Added comment: Comment on list classification: Upgrading from red to amber. Amber rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. The group decided to rate amber until there is more evidence for the gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.119 | B3GAT3 | Eleanor Williams Gene: b3gat3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.118 | B3GAT3 | Eleanor Williams Mode of inheritance for gene: B3GAT3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.79 | B3GAT3 | Eleanor Williams commented on gene: B3GAT3: PMID: 28771243 - Yauy et al 2018 - six patients from four unrelated consanguineous families, all from Morocco. All sequenced patients showed a unique homozygous mutation of c.667G >A, p.Gly223Ser in the B3GAT3 gene. 3 patients from 2 families showed craniosynostosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | B3GAT3 | Eleanor Williams Added phenotypes Craniosynostosis and bone fragility for gene: B3GAT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.54 | B3GAT3 | Eleanor Williams Publications for gene: B3GAT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | B3GAT3 | Tracy Lester reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: Yauy Genet Med 20:269 (2018); Phenotypes: Craniosynostosis and bone fragility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | B3GAT3 | Eleanor Williams reviewed gene: B3GAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | B3GAT3 |
Eleanor Williams gene: B3GAT3 was added gene: B3GAT3 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: B3GAT3 was set to |
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