Arthrogryposis
Gene: ADAMTS15
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.Created: 30 Jan 2023, 3:39 p.m. | Last Modified: 30 Jan 2023, 3:40 p.m.
Panel Version: 4.5
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 6 Sep 2022, 11:58 a.m. | Last Modified: 6 Sep 2022, 11:58 a.m.
Panel Version: 3.163
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: LiteratureCreated: 6 Sep 2022, 11:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
distal arthrogryposis
Publications
Phenotypes for gene: ADAMTS15 were changed from distal arthrogryposis to Arthrogryposis, distal, type 12, OMIM:620545
Tag gene-checked was removed from gene: ADAMTS15.
Tag gene-checked tag was added to gene: ADAMTS15.
Tag Q3_22_rating was removed from gene: ADAMTS15. Tag Q3_22_MOI was removed from gene: ADAMTS15.
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)
Gene: adamts15 has been classified as Amber List (Moderate Evidence).
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