Glaucoma (developmental)
Gene: ADAMTS17
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
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
Comment on list classification: Promoted from red to green due to expert review. 7 cases from 3 different families reported (see PMID: 19836009).Created: 12 Apr 2017, 11:23 a.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
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
Publications for ADAMTS17 were set to 2268; 6506; 19836009
This gene has been classified as Green List (High Evidence).
Publications for ADAMTS17 were set to 2268; 6506;19836009;
ADAMTS17 was created by Chricampbell
ADAMTS17 was added to Glaucoma (developmental)panel. Sources: GDL Glaucoma panel