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Progressive Retinal Atrophy, CNGA1
Breed: Shetland Sheepdog
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Progressive Retinal Atrophy, CNGA1
OMIA
1977
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Test Type
Genetic Disease/Disorder
Details
PRA CNGA1 is one cause of early onset PRA, in Shelties that clinically appears the same as in other breeds. As in other forms of PRA, it starts as night-blindness, progressing to sight loss even in bright light, eventually leading to blindness. The average age of clinical diagnosis is reported to be 5 years, but there is some variation. It is known that there are other forms of PRA in Shelties, including ones that currently do not have tests.
Details 2
PRA CNGA1 is one cause of early onset PRA, in Shelties that clinically appears the same as in other breeds. As in other forms of PRA, it starts as night-blindness, progressing to sight loss even in bright light, eventually leading to blindness. The average age of clinical diagnosis is reported to be 5 years, but there is some variation. The breed suffers from at least one, and possibly more variants of PRA that are not yet identified, including unidentified mutations of Slow Progressing Retinopathy (SPR).
Published
Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. : Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21, 2015. Pubmed reference: 26202106. DOI: 10.1111/age.12323.
Published 2
Karlstam et al., A slowly progressive retinopathy in the Shetland Sheepdog. Vet Ophthalmol. 2011 Jul; 14(4):227-38.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Shetland Sheepdog
HSP Test-Specific Data
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - Shetland Sheepdog
GTP Disease Synonym
Progressive retinal atrophy, CNGA1-related
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. : Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21
Inheritance
AR
FCI Number
88
GTP Breed
Shetland Sheepdog
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - Shetland Sheepdog
GTP Disease Synonym
Progressive retinal atrophy, CNGA1-related
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. : Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21
Inheritance
AR
FCI Number
88
GTP Breed
Shetland Sheepdog
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Canine Genetic Testing
GTP
GTP Name
Canine Genetic Testing
Breed
OMIA
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - Shetland Sheepdog
GTP Disease Synonym
Progressive retinal atrophy, CNGA1-related
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. : Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
88
GTP Breed
Shetland Sheepdog
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - Shetland Sheepdog
GTP Disease Synonym
Progressive retinal atrophy, CNGA1-related
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Nature of test
mutation test
FCI Number
88
GTP Breed
Shetland Sheepdog
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - Shetland Sheepdog
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Nature of test
mutation test
FCI Number
88
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
CNGA1
Mutation
c.1752_1755del
Mutation Comment
g.43831897_43831900del
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - Shetland Sheepdog
GTP Disease Synonym
Progressive retinal atrophy, CNGA1-related
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. : Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21
Inheritance
AR
FCI Number
88
GTP Breed
Shetland Sheepdog
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