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Arthrogryposis

Gene: ADAMTS15

Green List (high evidence)
ADAMTS15 (ADAM metallopeptidase with thrombospondin type 1 motif 15)
EnsemblGeneIds (GRCh38): ENSG00000166106
EnsemblGeneIds (GRCh37): ENSG00000166106
OMIM: 607509, Gene2Phenotype
ADAMTS15 is in 3 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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
Created: 30 Jan 2023, 3:39 p.m.
Last Modified: 30 Jan 2023, 3:40 p.m.
Panel version: 4.5

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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: Literature
Created: 6 Sep 2022, 11:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
distal arthrogryposis

Publications

Created: 6 Sep 2022, 11:57 a.m.

Panel version: 3.162

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis, distal, type 12, OMIM:620545
OMIM
607509
Clinvar variants
Variants in ADAMTS15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ADAMTS15 were changed from distal arthrogryposis to Arthrogryposis, distal, type 12, OMIM:620545

25 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: ADAMTS15.

7 Feb 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: ADAMTS15.

30 Jan 2023, Gel status: 3

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_22_rating was removed from gene: ADAMTS15. Tag Q3_22_MOI was removed from gene: ADAMTS15.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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)

6 Sep 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: adamts15 has been classified as Amber List (Moderate Evidence).

6 Sep 2022, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

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