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| Skeletal dysplasia v1.172 | ADAMTS10 | Eleanor Williams Phenotypes for gene: ADAMTS10 were changed from Weill-Marchesani syndrome type 1 to Weill-Marchesani syndrome 1, recessive, 277600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.171 | ADAMTS10 | Eleanor Williams Publications for gene: ADAMTS10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.170 | ADAMTS10 | Eleanor Williams Mode of inheritance for gene: ADAMTS10 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.169 | ADAMTS10 | Eleanor Williams Classified gene: ADAMTS10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.169 | ADAMTS10 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as there are more than 3 cases with variants in ADAMS10 in patients with Weill-Marchesani syndrome. Plus a mouse model with a WMS associated truncating mutation has a skeletal phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.169 | ADAMTS10 | Eleanor Williams Gene: adamts10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.168 | ADAMTS10 |
Eleanor Williams commented on gene: ADAMTS10: Associated with Weill-Marchesani syndrome 1, recessive (#277600) in OMIM. PMID: 15368195 - Dagoneau et al. 2004 - 3 cases. following homozygosity-mapping strategy in two consanguineous families from Lebanon and Saudi Arabia with Weill-Marchesani syndrome they selected ADAMTS10 for further sequencing. They found three distinct mutations of the ADAMTS10 gene in these two families and in one sporadic WMS case (one nonsense mutation (R237X) and two splice-site mutations). The variants segregated with the disease in the familial cases. All probands fulfilled the criteria for WMS with short stature, brachydactyly, limitation of joint movement, microspherophakia, dislocated lenses, severe myopia, and glaucoma. PMID: 19836009 - Morales et al. 2009 - 2 cases. Two families which met the diagnostic criteria for WMS were each found to have a different homozygous missense mutation in ADAMTS10 (c.1553 G > A (p.G518D) and c.2098 G > T (p.G700C)). PMID: 30060141 - Mularczyk et al 2018 - A mouse model containing a truncation mutation on ADAMS10 seen in WMS patients was created. Homozygous WMS mice are smaller and have shorter long bones with perturbation to the zones of the developing growth plate and changes in cell proliferation. |
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| Skeletal dysplasia v1.153 | ADAMTS10 | Eleanor Williams Added phenotypes Weill-Marchesani syndrome type 1 for gene: ADAMTS10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | ADAMTS10 | Tracy Lester reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Weill-Marchesani syndrome type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | ADAMTS10 | Eleanor Williams reviewed gene: ADAMTS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | ADAMTS10 |
Eleanor Williams gene: ADAMTS10 was added gene: ADAMTS10 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: ADAMTS10 was set to |
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