Neuronal Ceroid Lipofuscinosis 6 (NCL6)
Breed: Toy Australian Shepherd
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
General
Disease Name
Neuronal Ceroid Lipofuscinosis 6 (NCL6)
OMIA
1443
Gene Name
CLN6
Mutation
c.829T>C
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. Symptoms (18 months of age) : Vision loss & full blindness & behaviour changes (hyperactivity, circling, anxiety and decreasing cognitive abilities)
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. Symptoms (18 months of age) : Vision loss & full blindness & behaviour changes (hyperactivity, circling, anxiety and decreasing cognitive abilities)
Published
Katz,ML.,Farias,FH.,Sanders,DN.,Zeng,R.,Khan,S.,Johnson,GS.,O'Brien,DP.: AmissensemutationincanineCLN6inanAustralianshepherdwithneuronalceroidlipofuscinosis.JBiomedBiotechnol2011:198042,2011.Pubmedreference:21234413.DOI:10.1155/2011/198042.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
NCL6
Gene Name
CLN6
Mutation
c.829T>C
Mutation Comment
g.32247875A>G
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Nature of test
mutation test
FCI Number
-67
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CLN6
Mutation
c.829T>C
Key Comment