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  3. ADAMTS10
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Arthrogryposis

Gene: ADAMTS10

Green List (high evidence)
ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10)
EnsemblGeneIds (GRCh38): ENSG00000142303
EnsemblGeneIds (GRCh37): ENSG00000142303
OMIM: 608990, Gene2Phenotype
ADAMTS10 is in 10 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

LOF confirmed

Pathogenic missense exclusive to transcript NM_030957.3 have been found
Created: 30 Jan 2020, 10:21 p.m. | Last Modified: 30 Jan 2020, 10:21 p.m.
Panel Version: 0.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Weill-Marchesani syndrome

Publications

Created: 30 Jan 2020, 10:21 p.m.
Last Modified: 30 Jan 2020, 10:21 p.m.
Panel version: 0.19

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: Joint stiffness and limitations described as part of the phenotype.
Created: 31 Jan 2020, 1:42 a.m. | Last Modified: 31 Jan 2020, 1:42 a.m.
Panel Version: 0.21
Mild intellectual disability is described in around 10% of affected individuals.
Sources: Expert list
Created: 23 Nov 2019, 4:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Weill-Marchesani syndrome 1, recessive, MIM#277600

Created: 23 Nov 2019, 4:46 a.m.

Panel version: Imported from Intellectual Disability syndromic and nonsyndromic_VCGS panel version 0.26

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Weill-Marchesani syndrome 1, recessive, MIM#277600
OMIM
608990
Clinvar variants
Variants in ADAMTS10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamts10 has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADAMTS10 were changed from to Weill-Marchesani syndrome 1, recessive, MIM#277600

31 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADAMTS10 were set to

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADAMTS10 was added gene: ADAMTS10 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADAMTS10 was set to Unknown