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  3. ADAMTS2
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Aortopathy_Connective Tissue Disorders

Gene: ADAMTS2

Green List (high evidence)
ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2)
EnsemblGeneIds (GRCh38): ENSG00000087116
EnsemblGeneIds (GRCh37): ENSG00000087116
OMIM: 604539, Gene2Phenotype
ADAMTS2 is in 7 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229)
Created: 1 Jul 2020, 5:16 a.m. | Last Modified: 1 Jul 2020, 5:16 a.m.
Panel Version: 0.97
Created: 1 Jul 2020, 5:16 a.m.
Last Modified: 1 Jul 2020, 5:16 a.m.
Panel version: 0.97

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30071989; not a gene for HTAAD by Clingen working group

PMID: 26765342;
5 patients form 4 unrelated families (3 PTVs + 1 exon del). qPCR of total RNA demonstrated significantly reduced ADAMTS2 expression and LoF was further supported by functional assays using dermal fibroblasts.
Authors noted that Family 1 and Patient 5 are clinically milder and hypothesised that their C-term variants may lead to some transcripts escaping NMD, producing a truncated yet partially functional protein.
Figure 2 provides an additional 6 previously reported variants (2 PTVs + 4 exon dels.
Sources: Literature
Created: 1 Jul 2020, 1:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)

Publications

Created: 1 Jul 2020, 1:23 a.m.

Panel version: 0.96

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)
OMIM
604539
Clinvar variants
Variants in ADAMTS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: adamts2 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ADAMTS2 were set to PMID: 30071989; 26765342

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: adamts2 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: ADAMTS2 was added gene: ADAMTS2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS2 were set to PMID: 30071989; 26765342 Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410) Review for gene: ADAMTS2 was set to GREEN