| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.102 | B4GALT7 | Bryony Thompson Marked gene: B4GALT7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.102 | B4GALT7 | Bryony Thompson Gene: b4galt7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.102 | B4GALT7 | Bryony Thompson Classified gene: B4GALT7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.102 | B4GALT7 | Bryony Thompson Gene: b4galt7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.101 | B4GALT7 |
Bryony Thompson gene: B4GALT7 was added gene: B4GALT7 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT7 were set to 28306229; 26940150; 24755949; 23956117 Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS Review for gene: B4GALT7 was set to GREEN Added comment: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229). At least 6 families reported with compound heterozygous or homozygous variants, with a spondylodysplastic EDS phenotype. Sources: Expert list |
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