Aortopathy_Connective Tissue Disorders

Gene: ADAMTS17

Green List (high evidence)

ADAMTS17 (ADAM metallopeptidase with thrombospondin type 1 motif 17)
EnsemblGeneIds (GRCh38): ENSG00000140470
EnsemblGeneIds (GRCh37): ENSG00000140470
OMIM: 607511, Gene2Phenotype
ADAMTS17 is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Weill-Marchesani syndrome is a multi-system connective tissue disorder. Biallelic variants in ADAMTS17 have been reported in at least 6 families.
Sources: Other
Created: 10 Aug 2021, 11:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Weill-Marchesani 4 syndrome, recessive MIM#613195

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Weill-Marchesani 4 syndrome, recessive MIM#613195
OMIM
607511
Clinvar variants
Variants in ADAMTS17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: adamts17 has been classified as Green List (High Evidence).

10 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: adamts17 has been classified as Green List (High Evidence).

10 Aug 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ADAMTS17 was added gene: ADAMTS17 was added to Aortopathy_Connective Tissue Disorders. Sources: Other Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS17 were set to 19836009; 20301293 Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive MIM#613195 Review for gene: ADAMTS17 was set to GREEN gene: ADAMTS17 was marked as current diagnostic