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Ciliary dyskinesia, primary, NME5-related
Breed: Alaskan Malamute
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 in this breed
General
Disease Name
Ciliary dyskinesia, primary, NME5-related
OMIA
2206
Gene Name
NME5
Mutation
no test 2020
Mutation 2
g.25792084del
Mutation 3
c.43delA
Mutation 4
p.(T15Lfs*56)
Test Type
Genetic Disease/Disorder
Application Information
Comment in orig. research: "The mutant allele was not present in more than 1000 control dogs from different breeds." (Anderegg et al., 2019)
Published
2019 Anderegg, L., Im Hof Gut, M., Hetzel, U., Howerth, E.W., Leuthard, F., Kyöstilä, K., Lohi, H., Pettitt, L., Mellersh, C., Minor, K.M., Mickelson, J.R., Batcher, K., Bannasch, D., Jagannathan, V., Leeb, T. : NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS Genet 15:e1008378, 2019. Pubmed reference: 31479451. DOI: 10.1371/journal.pgen.1008378.
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Alaskan Malamute
HSP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Primary Ciliary Dyskinesia
GTP Disease Synonym
PCD
Gene Name
NME5
Mutation
c.43delA
Mutation Comment
g.25792084del
No Test/Unknown GTP availability
GTP
Breed
OMIA
Gene Name
NME5
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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