Global Variome shared LOVD
USH1C (Usher syndrome 1C (autosomal recessive, severe))
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Curator:
David Baux
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Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
Di
: Digenic
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
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8 entries on 1 page. Showing entries 1 - 8.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00736
-
myotonia congenita, atypical, acetazolamide-responsive
608390
AD
11
4
SCN4A
-
-
00737
CMS16
myasthenic syndrome, congenital, type 16, acetazolamide-responsive
614198
AR
-
-
SCN4A
-
-
07118
CMYO22A
myopathy, congenital, type 22A
620351
AR
-
-
SCN4A
-
-
07119
CMYO22B
myopathy, congenital, type 22B
620369
AR
-
-
SCN4A
-
-
01500
HOKPP
paralysis, hypokalemic, periodic (HOKPP)
-
-
13
14
CACNA1S, SCN4A
-
-
00738
HOKPP2
paralysis, hypokalemic, periodic, type 2 (HOKPP-2)
613345
AD
-
-
SCN4A
-
autosomal dominant
00734
HYPP
paralysis, periodic, hyperkalemic (HYPP)
170500
AD
8
8
SCN4A
-
autosomal dominant
00735
PMC
paramyotonia congenita (von Eulenburg)
168300
AD
94
93
SCN4A
-
-
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