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Arthrogryposis v5.19 | ADAMTS15 | Arina Puzriakova Phenotypes for gene: ADAMTS15 were changed from distal arthrogryposis to Arthrogryposis, distal, type 12, OMIM:620545 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v5.18 | ADAMTS15 | Arina Puzriakova Tag gene-checked was removed from gene: ADAMTS15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v4.5 | ADAMTS15 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ADAMTS15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v4.5 | ADAMTS15 |
Eleanor Williams Tag Q3_22_rating was removed from gene: ADAMTS15. Tag Q3_22_MOI was removed from gene: ADAMTS15. |
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Arthrogryposis v4.5 | ADAMTS15 | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v4.5 | ADAMTS15 | Eleanor Williams reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v4.4 | ADAMTS15 |
Eleanor Williams Source Expert Review Green was added to ADAMTS15. Source NHS GMS was added to ADAMTS15. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Arthrogryposis v3.163 | ADAMTS15 | Sarah Leigh Classified gene: ADAMTS15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.163 | ADAMTS15 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.163 | ADAMTS15 | Sarah Leigh Gene: adamts15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.162 | ADAMTS15 |
Sarah Leigh gene: ADAMTS15 was added gene: ADAMTS15 was added to Arthrogryposis. Sources: Literature Q3_22_rating, Q3_22_MOI tags were added to gene: ADAMTS15. Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS15 were set to 35962790 Phenotypes for gene: ADAMTS15 were set to distal arthrogryposis Review for gene: ADAMTS15 was set to GREEN Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least four variants have been reported by PMID: 35962790 in four independent consanguineous families, the unaffected parents were heterozgous for the causative variants in each of the families. Sources: Literature |