Structural eye disease
Gene: ADAMTS17EnsemblGeneIds (GRCh38): ENSG00000140470
EnsemblGeneIds (GRCh37): ENSG00000140470
OMIM: 607511, Gene2Phenotype
ADAMTS17 is in 4 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB Associated with Ectopia Lentis and primary glaucoma, to our knowledge there is no evidence that it is involved in AMC. Morales: four families with developmental glaucoma and anterior chamber anomaliesCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR)
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Associated with Ectopia Lentis and primary glaucoma, to our knowledge there is no evidence that it is involved in AMC. Morales: four families with developmental glaucoma and anterior chamber anomaliesCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR)
- OMIM
- 607511
- Clinvar variants
- Variants in ADAMTS17
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ADAMTS17. Added phenotypes Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR) for gene: ADAMTS17 Publications for gene ADAMTS17 were changed from 6506; 19836009; 2268 to 19836009
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ADAMTS17 was added gene: ADAMTS17 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS17 were set to 6506; 19836009; 2268 Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR)