Glaucoma (developmental)

Gene: ADAMTS17

Green List (high evidence)

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 anomalies

Created: 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

• 19836009

Green List (high evidence)

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 anomalies

Created: 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

• 19836009

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.

Green List (high evidence)

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

• 2268
• 6506

Variants in this GENE are reported as part of current diagnostic practice