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Skeletal dysplasia v1.155 | XYLT2 |
Eleanor Williams commented on gene: XYLT2: PMID: 26027496 - Munns et al 2015 - 3 patients from 2 unrelated families with bone fragility, hearing impairment, cardiac septal defects, and learning difficulties (spondyloocular syndrome). Identified homozygosity for a 1-bp duplication and a 1-bp deletion, respectively. The mutations, which segregated with disease in each family, were not found in public variant databases. PMID: 26987875- Taylan et al 2016 - report on 4 patients, 2 unrelated patients and 2 siblings, with spondyloocular syndrome and novel mutations in XYLT2. |
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Skeletal dysplasia v1.153 | XYLT2 | Eleanor Williams Added phenotypes Spondyloocular syndrome 605822 for gene: XYLT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | XYLT2 | Tracy Lester reviewed gene: XYLT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26987875; Phenotypes: Spondyloocular syndrome 605822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | XYLT2 | Eleanor Williams reviewed gene: XYLT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | XYLT2 |
Eleanor Williams Source NHS GMS was added to XYLT2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Skeletal dysplasia | XYLT2 | Sarah Leigh marked XYLT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia | XYLT2 | Sarah Leigh commented on XYLT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia | XYLT2 | Sarah Leigh classified XYLT2 as green |