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Neuronal Ceroid Lipofuscinosis 5 (NCL5)

Breed: Miniature American Shepherd

Generic Phene Data

Breeds
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
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General

Disease Name
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OMIA
Gene Name
Mutation
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Mutation 2
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Test Type
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Key Comments
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Details
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Details 2
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Published
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Published 2
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Published 3
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Published 4
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Body/System/Process
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Inheritance

Breed Specific Info

Researched Breeds
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Key Comment

Villani et al. (2019) reported the c.619C>T variant to be homozygous in an affected mixed-breed dog of unknown parentage. They also reported a 87kb haplotype including the variant that is shared by this affected dog and the breeds in which this variant has been previously reported. Villani et al. (2019) concluded "that the NCL in all of these dogs stems from the same founding mutation event that may have predated the establishment of the modern dog breeds. If so, the CLN5 nonsence allele is probably segregating in other, as yet unidentified, breeds. Thus, dogs exhibiting similar NCL-like signs should be screened for this CLN5 nonsense allele regardless of breed."

HSP Test-Specific Data

Agrotis S.r.l.

GTP Name
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Breed
Gene Name
Mutation
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Anicom Specialty Medical Institute Inc.

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Mutation
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BioBank AS

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Mutation
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Certagen GmbH

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Mutation
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CMSCH

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Mutation
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INNO

GTP Name
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Mutation
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Laboratorios Labocor S.L.

GTP Name
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Mutation
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Paw Print Genetics

GTP Name
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Mutation
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Nature of test
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FCI Number

PharmaDNA

GTP Name
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Breed
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Mutation
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Progènes-ADN

GTP Name
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Mutation
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VHL Genetics

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Mutation
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Zoolyx

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