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Scott Syndrome

Breed: German shepherd dog/ Double coat

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
Scott Syndrome
Mutation
g.8912219 G>A
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.

Breed Specific Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
ANO6
Mutation
unpublished

BioBank AS

GTP Name
BioBank AS
Gene Name
ANO6
Mutation
unpublished

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
ANO6
Mutation
unpublished

CMSCH

GTP
GTP Name
CMSCH
Gene Name
ANO6
Mutation
unpublished

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
Gene Name
ANO6
Mutation
unpublished
Nature of test
mutation test
FCI Number
166
GTP Breed
German shepherd dog/ Double coat

INNO

GTP
GTP Name
INNO
Gene Name
ANO6
Mutation
unpublished

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
ANO6
Mutation
unpublished

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
ANO6
Mutation
unpublished

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
ANO6
Mutation
unpublished

VHL Genetics

GTP Name
VHL Genetics
Gene Name
ANO6
Mutation
unpublished

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
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unpublished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
Gene Name
ANO6
Mutation
unpublished
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