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  3. ADAMTS10
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Intellectual disability

Gene: ADAMTS10

Amber List (moderate evidence)
ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10)
EnsemblGeneIds (GRCh38): ENSG00000142303
EnsemblGeneIds (GRCh37): ENSG00000142303
OMIM: 608990, Gene2Phenotype
ADAMTS10 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: While mild ID is reportedly a phenotypic feature associated with Weill–Marchesani syndrome, this is not evident in the literature cases. Therefore, a more consistent and/or significant pattern of ID is necessary for inclusion of ADAMTS10 on a diagnostic ID panel.
Created: 24 Jul 2020, 12:59 p.m. | Last Modified: 24 Jul 2020, 12:59 p.m.
Panel Version: 3.200
Associated with Weill–Marchesani syndrome in OMIM and G2P (also see reports below). Intellectual deficit is reported in 13% of cases, but is always mild (source: Orphanet). ID also reported in G2P.

Dagoneau et al. (2004) (PMID: 15368195) reported three distinct variants in two consanguineous families and one sporadic case of recessive WMS (total of six affected individuals). These include one nonsense and two splice site variants, located in the catalytic domain - predicted to result in a markedly truncated protein. No ID was reported.

Kutz et al. (2008) (PMID: 18567016) identified compound heterozygosity for a missense and a nonsense variant in the ADAMTS10 gene, in a patient with recessive WMS. Intellect was judged to be unaffected in this individual.

Morales et al. (2009) (PMID: 19836009) reported two distinct homozygous missense variants in two families (two affected sibs per family), and no report of ID status.

Steinkellner et al. (2015) (PMID: 25469541) homozygous missense variant identified in a WMS patient, but no report of cognitive impairment.
Created: 24 Jul 2020, 12:57 p.m. | Last Modified: 24 Jul 2020, 12:57 p.m.
Panel Version: 3.199

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Weill-Marchesani syndrome, 277600

Publications

Created: 24 Jul 2020, 12:57 p.m.
Last Modified: 24 Jul 2020, 12:57 p.m.
Panel version: 3.200

Zornitza Stark (Australian Genomics)

I don't know

Mild intellectual disability is described in around 10% of affected individuals.
Sources: Expert list
Created: 27 Jan 2020, 4:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 27 Jan 2020, 4:59 a.m.

Panel version: 3.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Weill-Marchesani syndrome 1, recessive, MIM#277600
OMIM
608990
Clinvar variants
Variants in ADAMTS10
Penetrance
None
Panels with this gene

History Filter Activity

24 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: adamts10 has been classified as Amber List (Moderate Evidence).

27 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ADAMTS10 was added gene: ADAMTS10 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, MIM#277600 Review for gene: ADAMTS10 was set to AMBER