Aortopathy_Connective Tissue Disorders
Gene: ADAMTS17EnsemblGeneIds (GRCh38): ENSG00000140470
EnsemblGeneIds (GRCh37): ENSG00000140470
OMIM: 607511, Gene2Phenotype
ADAMTS17 is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Weill-Marchesani syndrome is a multi-system connective tissue disorder. Biallelic variants in ADAMTS17 have been reported in at least 6 families.
Sources: OtherCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: adamts17 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: adamts17 has been classified as Green List (High Evidence).
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