| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.100 | B3GALT6 | Bryony Thompson Marked gene: B3GALT6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.100 | B3GALT6 | Bryony Thompson Gene: b3galt6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.100 | B3GALT6 | Bryony Thompson Classified gene: B3GALT6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.100 | B3GALT6 | Bryony Thompson Gene: b3galt6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.99 | B3GALT6 |
Bryony Thompson gene: B3GALT6 was added gene: B3GALT6 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALT6 were set to 29931299; 28306229 Phenotypes for gene: B3GALT6 were set to Ehlers Danlos syndrome, progeroid type, 2, 615349; Spondylodysplastic EDS Review for gene: B3GALT6 was set to GREEN Added comment: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229). In 12 patients from 9 families with EDSSPD2, 8 compound heterozygous mutations and 1 homozygous mutation in B3GALT6 were identified, including 11 missense variants, 2 frameshift variants, a deletion of 19 amino acids, and a start codon alteration (PMID: 29931299). Sources: Expert list |
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