Skeletal dysplasia
Gene: ADAMTS10

ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10)
EnsemblGeneIds (GRCh38): ENSG00000142303
EnsemblGeneIds (GRCh37): ENSG00000142303
OMIM: 608990, Gene2Phenotype
ADAMTS10 is in 10 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 short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects.

Multiple families reported.

Sources: Expert list
Created: 23 Nov 2019, 4:46 a.m. | Last Modified: 22 Mar 2022, 9:02 a.m.

Panel Version: 0.11754

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Weill-Marchesani syndrome 1, recessive, MIM#277600

Publications

Created: 23 Nov 2019, 4:46 a.m.
Last Modified: 22 Mar 2022, 9:02 a.m.
Panel version: Imported from Mendeliome panel version 0.11754

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Expert list
Victorian Clinical Genetics Services

Phenotypes

Weill-Marchesani syndrome 1, recessive, 277600

OMIM

608990

Clinvar variants

Variants in ADAMTS10

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: ADAMTS10 was added gene: ADAMTS10 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS10 were set to 19836009; 30060141; 15368195 Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, 277600

Skeletal dysplasia Gene: ADAMTS10