Donate
Neuronal Ceroid Lipofuscinosis 12 (NCL12)
Breed: Tibetan Terrier
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 in this breed
General
Disease Name
Neuronal Ceroid Lipofuscinosis 12 (NCL12)
OMIA
1552
Gene Name
ATP13A2
Mutation
c.1623delG
Test Type
Genetic Disease/Disorder
Details
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline (4-6 years of age)
Details 2
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline (4-6 years of age)
Published
Farias et al., 2011, Neurobiology of Disease 42(3): A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Neuronal Ceroid Lipofuscinosis A
Gene Name
ATP13A2
Mutation
c.1623delG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Farias et al., 2011, Neurobiology of Disease 42(3): A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
Application in the Breed
Carriers may be bred to normal animals (N/ncl12 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/ncl12 x N/ncl12) nor of affected animals (ncl12/ncl12) should be bred. Behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline (4-6 years of age)
Inheritance
AR
FCI Number
209
GTP Breed
Tibetan Terrier
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Neuronal Ceroid Lipofuscinosis A
Gene Name
ATP13A2
Mutation
c.1623delG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Farias et al., 2011, Neurobiology of Disease 42(3): A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
Application in the Breed
Carriers may be bred to normal animals (N/ncl12 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/ncl12 x N/ncl12) nor of affected animals (ncl12/ncl12) should be bred. Behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline (4-6 years of age)
Inheritance
AR
FCI Number
209
GTP Breed
Tibetan Terrier
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Neuronal Ceroid Lipofuscinosis A
GTP Disease Synonym
NCL 12
Gene Name
ATP13A2
Mutation
c.1623del
Mutation Comment
g.81210367del
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Neuronal Ceroid Lipofuscinosis A
Gene Name
ATP13A2
Mutation
c.1623delG
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
ATP13A2
Mutation
c.1623delG
Orthopedic Foundation for Animals
GTP
GTP Name
Orthopedic Foundation for Animals
Breed
OMIA
GTP Disease Name
Neuronal Ceroid Lipofuscinosis A
Gene Name
COL5A1
Mutation
c.1623delG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Farias et al., 2011, Neurobiology of Disease 42(3): A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
Application in the Breed
Carriers may be bred to normal animals (N/ncl12 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/ncl12 x N/ncl12) nor of affected animals (ncl12/ncl12) should be bred. Behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline (4-6 years of age)
Inheritance
AR
FCI Number
209
GTP Breed
Tibetan Terrier
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
GTP Disease Name
Neuronal Ceroid Lipofuscinosis A
Gene Name
ATP13A2
Mutation
c.1623delG
This test is outsourced to:
Weatherby's
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
ATP13A2
Mutation
c.1623delG
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Neuronal Ceroid Lipofuscinosis A
Gene Name
ATP13A2
Mutation
c.1623delG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Farias et al., 2011, Neurobiology of Disease 42(3): A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
Application in the Breed
Carriers may be bred to normal animals (N/ncl12 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/ncl12 x N/ncl12) nor of affected animals (ncl12/ncl12) should be bred. Behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline (4-6 years of age)
Inheritance
AR
FCI Number
209
GTP Breed
Tibetan Terrier
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Neuronal Ceroid Lipofuscinosis A
Gene Name
ATP13A2
Mutation
c.1623delG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Farias et al., 2011, Neurobiology of Disease 42(3): A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
Application in the Breed
Carriers may be bred to normal animals (N/ncl12 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/ncl12 x N/ncl12) nor of affected animals (ncl12/ncl12) should be bred. Behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline (4-6 years of age)
Inheritance
AR
FCI Number
209
GTP Breed
Tibetan Terrier
-
HGTD Quick Search
-
The portal for Genetic Testing Providers (labs); genetic tests, and tests by breed: as well as information on quality indicators and genetic counseling resources.
GOAL: Robust genetic testing supporting health improvements & a sustainable future for healthy dogs. -
HGTD Database Resources
How to use the HGTD
Using HGTD - YouTube Videos
HGTD Quality Indicators
Acronyms - Mode of Inheritance♦ 2020-New What is a Relevance Rating?
FAQs
Answers to frequently asked questions about the HGTD
Accreditation Basics
This brief overview may help you identify what types of accreditation are important to you, when choosing your genetic test provider.
Accreditation and Industry Standards
List of organizations throughout the world that are involved in matters of accreditation and establishing industry standards.
Choosing a Genetic Test Provider
Choosing a genetic test provider can be daunting. This short article helps you to consider what is important to you, and your dogs, in finding the right test provider for you. -
The HGTD's genetic counselling resources index provides access to basic introductory articles on genetics, articles on application of genetics in breed health management, and advanced work in technical genetics research. Breed-specific information is also available in our Pedigreed Dogs Database.
