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  3. ADAMTS17
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Skeletal dysplasia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present. At least 3 unrelated families reported.
Created: 28 Oct 2021, 8:29 a.m. | Last Modified: 28 Oct 2021, 8:29 a.m.
Panel Version: 0.9519

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Weill-Marchesani 4 syndrome, recessive, MIM# 613195

Publications

Created: 28 Oct 2021, 8:29 a.m.
Last Modified: 28 Oct 2021, 8:29 a.m.
Panel version: Imported from Mendeliome panel version 0.9519

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Weill-Marchesani syndrome type 4
OMIM
607511
Clinvar variants
Variants in ADAMTS17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADAMTS17 was added gene: ADAMTS17 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS17 were set to 19836009; 31019231; 22486325; 24940034 Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani syndrome type 4