Primary Open Angle Glaucoma (POAG) ADAMTS10
Breed: Norwegian Elkhound/ grey
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Primary Open Angle Glaucoma (POAG) ADAMTS10
OMIA
1870
Gene Name
ADAMTS10
Mutation
g.53101896G>A
Mutation 2
p.G661R
Mutation 3
c.1981G>A
Mutation 4
c.del2986_2991
Mutation Notes
mutations are breed-specific
Test Type
Genetic Disease/Disorder
Details
Primary open angle glaucoma, also known as POAG, is a painful condition where the pressure in the eye(s) increases over time eventually leading to blindness.
Details 2
Primary open angle glaucoma, also known as POAG, is a painful condition where the pressure in the eye(s) increases over time eventually leading to blindness.
Published
Kuchtey, J., Olson, L.M., Rinkoski, T., Mackay, E.O., Iverson, T.M., Gelatt, K.N., Haines, J.L., Kuchtey, R.W. : Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma. PLoS Genet 7:e1001306, 2011. Pubmed reference: 21379321. DOI: 10.1371/journal.pgen.1001306.
Published 2
Ahonen, Saija & Kaukonen, Maria & Nussdorfer, Forrest & D Harman, Christine & Komaromy, Andras & Lohi, Hannes. (2014). A Novel Missense Mutation in ADAMTS10 in Norwegian Elkhound Primary Glaucoma. PloS one. 9. e111941. 10.1371/journal.pone.0111941.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Beagle, Norwegian Elkhound
HSP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
POAG
Gene Name
ADAMTS10
Mutation
c.1159G>A
Mutation Comment
g.53101896C>T