Glaucoma congenital
Gene: ADAMTS17EnsemblGeneIds (GRCh38): ENSG00000140470
EnsemblGeneIds (GRCh37): ENSG00000140470
OMIM: 607511, Gene2Phenotype
ADAMTS17 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Complex eye phenotype associated with this syndrome, including glaucoma.
Sources: Expert listCreated: 2 Aug 2020, 7:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Weill-Marchesani 4 syndrome, recessive, MIM# 613195
- OMIM
- 607511
- Clinvar variants
- Variants in ADAMTS17
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adamts17 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adamts17 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ADAMTS17 was added gene: ADAMTS17 was added to Glaucoma congenital. Sources: Expert list Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, MIM# 613195 Review for gene: ADAMTS17 was set to GREEN