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Severe Combined Immunodeficiency Disease (SCID)
Breed: Frisian Water Dog/ Wetterhoun
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
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
Severe Combined Immunodeficiency Disease (SCID)
OMIA
220
Gene Name
PRKDC
Mutation
c.10828G>T
Mutation 2
g.32195051del
Test Type
Genetic Disease/Disorder
Details
Severe combined immunodeficiency (SCID) is a devastating autoimmune disease. SCID is a rare immune disorder characterized by the inability to fight recurrent systemic or localized infections of the eye, ear or respiratory system. Symptoms include: diarrhea, unsteadiness, blindness, and seizures. Age of onset birth, with death by 12 weeks. In some cases, puppies manage to survive up to 6 months.
Details 2
Severe combined immunodeficiency (SCID) is a devastating autoimmune disease. SCID is a rare immune disorder characterized by the inability to fight recurrent systemic or localized infections of the eye, ear or respiratory system. Symptoms include: diarrhea, unsteadiness, blindness, and seizures. Age of onset birth, with death by 12 weeks. In some cases, puppies manage to survive up to 6 months.
Published
Ding, Q., Bramble, L., Yuzbasiyan-Gurkan, V., Bell, T., Meek, K. : DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia Gene 283:263-269, 2002. Pubmed reference: 11867233.
Body/System/Process
Autoimmune
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
Nature of test
mutation test
FCI Number
221
GTP Breed
Frisian Water Dog (Wetterhoun)
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
Nature of test
mutation test
FCI Number
221
GTP Breed
Frisian water dog/ Wetterhoun
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
RAG1
Mutation
c.2893G>T
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