Glaucoma congenital
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
EnsemblGeneIds (GRCh38): ENSG00000142303
EnsemblGeneIds (GRCh37): ENSG00000142303
OMIM: 608990, Gene2Phenotype
ADAMTS10 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association with Weill-Marchesani syndrome, a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma (present in ~75%), and, occasionally, heart defects.
Sources: Expert listCreated: 2 Aug 2020, 7:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Weill-Marchesani syndrome 1, recessive, MIM# 277600
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Weill-Marchesani syndrome 1, recessive, MIM# 277600
- OMIM
- 608990
- Clinvar variants
- Variants in ADAMTS10
- Penetrance
- None
- Panels with this gene
History Filter Activity
2 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adamts10 has been classified as Green List (High Evidence).
2 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adamts10 has been classified as Green List (High Evidence).
2 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ADAMTS10 was added gene: ADAMTS10 was added to Glaucoma congenital. Sources: Expert list Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, MIM# 277600 Review for gene: ADAMTS10 was set to GREEN