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| Skeletal dysplasia v2.176 | MBTPS1 | Eleanor Williams Tag for-review was removed from gene: MBTPS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.176 | MBTPS1 | Eleanor Williams commented on gene: MBTPS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.175 | MBTPS1 |
Eleanor Williams Source Expert Review Green was added to MBTPS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v2.67 | MBTPS1 | Eleanor Williams Tag for-review tag was added to gene: MBTPS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.67 | MBTPS1 | Eleanor Williams Phenotypes for gene: MBTPS1 were changed from Skeletal dysplasia to Skeletal dysplasia; ?Spondyloepiphyseal dysplasia, Kondo-Fu type OMIM:618392; spondyloepiphyseal dysplasia, kondo-fu type MONDO:0032721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.66 | MBTPS1 | Eleanor Williams Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.65 | MBTPS1 | Eleanor Williams Classified gene: MBTPS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.65 | MBTPS1 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, but with recommendation of green rating following GMS review. 3 independent cases reported with biallelic variants in this gene and a skeletal phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.65 | MBTPS1 | Eleanor Williams Gene: mbtps1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.64 | MBTPS1 | Eleanor Williams reviewed gene: MBTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32857899, 32420688, 30046013, 31070020; Phenotypes: ?Spondyloepiphyseal dysplasia, Kondo-Fu type OMIM:618392, spondyloepiphyseal dysplasia, kondo-fu type MONDO:0032721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.20 | MBTPS1 |
Zornitza Stark gene: MBTPS1 was added gene: MBTPS1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013 Phenotypes for gene: MBTPS1 were set to Skeletal dysplasia Review for gene: MBTPS1 was set to GREEN gene: MBTPS1 was marked as current diagnostic Added comment: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature. Sources: Literature |
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