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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

General

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

Breed Specific Info

Researched Breeds

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
GTP Name
Breed
OMIA
Gene Name
Mutation

BioBank AS

GTP
GTP Name
Breed
OMIA
Gene Name
Mutation

Certagen GmbH

GTP
GTP Name
Breed
OMIA
Gene Name
Mutation

Laboratorios Labocor S.L.

GTP
GTP Name
Breed
OMIA
Gene Name
Mutation

VHL Genetics

GTP
GTP Name
Breed
OMIA
Gene Name
Mutation

CMSCH

GTP
GTP Name
Breed
OMIA
Gene Name
Mutation

Progènes-ADN

GTP
GTP Name
Breed
OMIA
Gene Name
Mutation

Zoolyx

GTP
GTP Name
Breed
OMIA
Gene Name
Mutation

Anicom Specialty Medical Institute Inc.

GTP
GTP Name
Breed
OMIA
Gene Name
Mutation

PharmaDNA

GTP
GTP Name
Breed
OMIA
Gene Name
Mutation

INNO

GTP
GTP Name
Breed
OMIA
Gene Name
Mutation

Paw Print Genetics

GTP
GTP Name
Breed
OMIA
Gene Name
Mutation
Nature of test
FCI Number
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