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Scott Syndrome
Breed: German Shepherd Dog/ Double coat
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Scott Syndrome
OMIA
1353
Gene Name
ANO6
Gene Name 2
CanFam3.1, Chr. 27
Mutation
g.8912219 G>A
Mutation 2
c.1934+1G>A
Mutation 3
g.8912219C>T
Test Type
Genetic Disease/Disorder
Details
Scott syndrome is a rare bleeding disorder associated with an inability of stimulated platelets to externalize the negatively charged phospholipid, phosphatidylserine. (Brooks et al, 2010)
Details 2
As summarised by Brooks et al. (2010), the main features of this disorder are "platelets with normal aggregation and secretion, yet specific impairment of stimulated prothrombinase activity, PS externalization, and microvesiculation". (From OMIA)
Published
Brooks, M.B., Catalfamo, J.L., MacNguyen, R., Tim, D., Fancher, S., McCardle, J.A. : A TMEM16F point mutation causes an absence of canine platelet TMEM16F and ineffective activation and death-induced phospholipid scrambling. J Thromb Haemost 13:2240-52, 2015. Pubmed reference: 26414452. DOI: 10.1111/jth.13157.
Published 2
Brooks M, Etter K, Catalfamo J, Brisbin A, Bustamante C, Mezey J. A Genome-wide Linkage Scan in German Shepherd Dogs Localizes Canine Platelet Procoagulant Deficiency (Scott Syndrome) to Canine Chromosome 27. Gene. 2010;450(1-2):70-75. doi:10.1016/j.gene.2009.09.016.
Body/System/Process
Blood
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
ANO6
Mutation
unpublished
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
ANO6
Mutation
unpublished
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
ANO6
Mutation
unpublished
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
ANO6
Mutation
unpublished
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
CSS
Gene Name
ANO6
Mutation
c.1934+1G>A
Mutation Comment
g.8912219C>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
ANO6
Mutation
unpublished
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
ANO6
Mutation
unpublished
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
ANO6
Mutation
unpublished
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
ANO6
Mutation
unpublished
VHL Genetics/ Combibreed
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
ANO6
Mutation
unpublished
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
ANO6
Mutation
unpublished
Nature of test
mutation test
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
ANO6
Mutation
unpublished
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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