Aortopathy_Connective Tissue Disorders
Gene: ADAMTS10EnsemblGeneIds (GRCh38): ENSG00000142303
EnsemblGeneIds (GRCh37): ENSG00000142303
OMIM: 608990, Gene2Phenotype
ADAMTS10 is in 10 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Weill-Marchesani syndrome is a multi-system connective tissue disorder. Biallelic variants in ADAMTS10 have been reported in >10 families.
Sources: OtherCreated: 10 Aug 2021, 11:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Weill-Marchesani syndrome 1, recessive MIM#277600
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 syndrome 1, recessive MIM#277600
- OMIM
- 608990
- Clinvar variants
- Variants in ADAMTS10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: adamts10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: adamts10 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: ADAMTS10 was added gene: ADAMTS10 was added to Aortopathy_Connective Tissue Disorders. Sources: Other Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS10 were set to 15368195; 20301293 Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive MIM#277600 Review for gene: ADAMTS10 was set to GREEN gene: ADAMTS10 was marked as current diagnostic