×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
Congenital myopathy (disorder)
0.400
Biomarker
GENOMICS_ENGLAND
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.
8220423
1993
×
Entrez Id:
7169
Gene Symbol:
TPM2
TPM2
Congenital myopathy (disorder)
0.390
Biomarker
GENOMICS_ENGLAND
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
23413262
2013
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
Congenital myopathy (disorder)
0.360
Biomarker
GENOMICS_ENGLAND
A 'second truncation' in TTN causes early onset recessive muscular dystrophy.
28716623
2017
×
Entrez Id:
4703
Gene Symbol:
NEB
NEB
Congenital myopathy (disorder)
0.360
Biomarker
GENOMICS_ENGLAND
Mutations in the nebulin gene can cause severe congenital nemaline myopathy.
12207937
2002
×
Entrez Id:
57190
Gene Symbol:
SELENON
SELENON
Congenital myopathy (disorder)
0.360
Biomarker
GENOMICS_ENGLAND
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
11528383
2001
×
Entrez Id:
7170
Gene Symbol:
TPM3
TPM3
Congenital myopathy (disorder)
0.340
Biomarker
GENOMICS_ENGLAND
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.
10619715
1999
×
Entrez Id:
779
Gene Symbol:
CACNA1S
CACNA1S
Congenital myopathy (disorder)
0.320
Biomarker
GENOMICS_ENGLAND
Dihydropyridine receptor (DHPR, CACNA1S ) congenital myopathy .
28012042
2017
×
Entrez Id:
9200
Gene Symbol:
HACD1
HACD1
Congenital myopathy (disorder)
0.320
Biomarker
GENOMICS_ENGLAND
We suggest that the mutation in the HACD1 gene causes a reduction in the synthesis of VLCFAs, which are components of membrane lipids and participants in physiological processes, leading to congenital myopathy .
23933735
2013
×
Entrez Id:
4632
Gene Symbol:
MYL1
MYL1
Congenital myopathy (disorder)
0.310
Biomarker
GENOMICS_ENGLAND
Our data implicate MYL1 as a crucial protein for adequate skeletal muscle function and that MYL1 deficiency is associated with severe congenital myopathy .
30215711
2018
×
Entrez Id:
6329
Gene Symbol:
SCN4A
SCN4A
Congenital myopathy (disorder)
0.310
Biomarker
GENOMICS_ENGLAND
Using whole exome sequencing, we identified homozygous or compound heterozygous SCN4A mutations in a cohort of 11 individuals from six unrelated kindreds with congenital myopathy .
26700687
2016
×
Entrez Id:
339855
Gene Symbol:
KY
KY
Congenital myopathy (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Kyphoscoliosis peptidase (KY ) mutation causes a novel congenital myopathy with core targetoid defects.
27484770
2016
×
Entrez Id:
7125
Gene Symbol:
TNNC2
TNNC2
Congenital myopathy (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
26924529
2016