Description
Relevant diseases:
- Congenital myopathy

Congenital myopathy inclusion criteria (29553)
- Muscle weakness
- ne or more of the following histopathological features
  - type 1 predominance or uniformity
  - congenital fibre type disproportion
  - central cores
  - multi-minicores
  - nemaline rods
  - central nuclei

- Availability of CK, muscle CT/MR imaging, muscle biopsy and neurophysiological studies

Congenital myopathy exclusion criteria (29553)
- Absence of muscle weakness
- CK more than 5x normal
- dystrophic features on muscle biopsy

Prior genetic testing guidance (29553)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Closing statement (29553)
These requirements will be kept under continual review during the main programme and may be subject to change

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna Sarkozy (Great Ormond Street Hospital)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

96 Entities

93 reviewed, 42 green

List Entity Reviews Mode of inheritance Details
96 Entitiess
Green Green List (high evidence)
2p15p16.1 region (includes BCL11A) Loss
ISCA-37408-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more)
  • 612513
  • PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Tags
Green Green List (high evidence)
17q21.3 recurrent region (includes KANSL1) Loss
ISCA-37420-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies
  • 610443
  • PMID: 25217958
  • Koolen-De Vries syndrome 610443
Tags
Green Green List (high evidence)
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • 194190
  • Wolf-Hirschhorn syndrome
Tags
Green Green List (high evidence)
MYMK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carey-Fineman-Ziter syndrome 254940
Tags
Green Green List (high evidence)
SELENON
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy, rigid spine, 1 602771
  • Myopathy, congenital, with fiber-type disproportion 255310
Tags
Green Green List (high evidence)
ACTA1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myopathy, actin, congenital, with cores
  • Myopathy, actin, congenital, with excess of thin myofilaments
  • Myopathy, congenital, with fiber-type disproportion 1
  • Nemaline myopathy 3
Tags
Green Green List (high evidence)
BIN1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Centronuclear Myopathy, Recessive
  • Myopathy, centronuclear, autosomal recessive, 255200
Tags
Green Green List (high evidence)
CACNA1S
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • congenital myopathy
Tags
Green Green List (high evidence)
CFL2
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nemaline myopathy 7, autosomal recessive, 610687
  • Nemaline Myopathy, Recessive
Tags
Green Green List (high evidence)
COL12A1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UCL
Phenotypes
  • EDS/myopathy overlap syndrome
Tags
Green Green List (high evidence)
COL6A1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bethlem myopathy, 158810
  • Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
COL6A2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bethlem myopathy, 158810
  • Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
COL6A3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
DNM2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myopathy, centronuclear, 160150
  • Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Tags
  • missense
Green Green List (high evidence)
EPG5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • vacuolar myopathy?
Tags
Green Green List (high evidence)
FKBP14
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,
Tags
Green Green List (high evidence)
HTRA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria, type VIII 617248
Tags
Green Green List (high evidence)
KBTBD13
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nemaline Myopathy, Dominant
  • Nemaline myopathy 6, autosomal dominant, 609273
Tags
  • missense
Green Green List (high evidence)
KLHL40
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nemaline myopathy 8, autosomal recessive, 615348
Tags
Green Green List (high evidence)
KLHL41
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nemaline myopathy 9, 615731 (3)
Tags
Green Green List (high evidence)
LGI4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Other
Phenotypes
  • Arthrogryposis Multiplex Congenita
  • Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468
  • AMCNMY
Tags
Green Green List (high evidence)
LMNA
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UCL
Phenotypes
  • Congenital fiber type disproportion myopathy
Tags
Green Green List (high evidence)
LMOD3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nemaline myopathy 10 616165
Tags
Green Green List (high evidence)
MAP3K20
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UCL
Phenotypes
  • congenital myopathy with fibre type disproportion
Tags
Green Green List (high evidence)
MEGF10
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399
Tags
Green Green List (high evidence)
MICU1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy with extrapyramidal signs, 615673 (3)
Tags
Green Green List (high evidence)
MTM1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • X-linked myotubular myopathy
  • Myotubular myopathy, X-linked, 310400
Tags
Green Green List (high evidence)
MYH2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Proximal myopathy and ophthalmoplegia 605637
Tags
Green Green List (high evidence)
MYH3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Arthrogryposis, distal, type 2A 193700
  • Arthrogryposis, distal, type 2B 601680
  • Arthrogryposis, distal, type 8 178110
Tags
Green Green List (high evidence)
MYH7
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Laing Distal Myopathy 160500
Tags
Green Green List (high evidence)
MYH8
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Trismus-pseudocamptodactyly syndrome 158300
Tags
Green Green List (high evidence)
MYO18B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Tags
Green Green List (high evidence)
NEB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • nemaline myopathy
  • Nemaline Myopathy, Recessive
  • Nemaline myopathy 2, autosomal recessive, 256030
Tags
Green Green List (high evidence)
ORAI1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Myopathy, tubular aggregate, 2 615883
Tags
  • missense
Green Green List (high evidence)
RYR1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Central core disease 117000
  • Minicore myopathy with external ophthalmoplegia 255320
  • Neuromuscular disease, congenital, with uniform type 1 fiber 117000
  • Malignant hyperthermia susceptibility 1 145600
Tags
  • pharmacogenetics
  • treatable
Green Green List (high evidence)
SCN4A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • congenital myopathy
Tags
Green Green List (high evidence)
SLC25A4
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • mitochondrial myopathy
Tags
Green Green List (high evidence)
SPEG
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Centronuclear myopathy 5 615959
Tags
Green Green List (high evidence)
STAC3
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Native American myopathy, 255995 (3)
Tags
Green Green List (high evidence)
STIM1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myopathy, tubular aggregate, 160565
Tags
  • missense
Green Green List (high evidence)
TNNT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • nemaline myopathy
  • Nemaline Myopathy, Recessive
  • Nemaline myopathy 5, Amish type, 605355
Tags
Green Green List (high evidence)
TPM2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CAP myopathy 2 609285
  • Nemaline myopathy 4, autosomal dominant 609285
Tags
Green Green List (high evidence)
TPM3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CAP myopathy 1 609284
  • Myopathy, congenital, with fiber-type disproportion 255310
  • Nemaline myopathy 1, autosomal dominant or recessive 609284
Tags
Green Green List (high evidence)
TTN
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myopathy, early-onset, with fatal cardiomyopathy 611705
Tags
Green Green List (high evidence)
VMA21
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • vacuolar myopathy?
Tags
Amber Amber List (moderate evidence)
CASQ1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UCL
Phenotypes
  • Vacuolar myopathy with CASQ1 aggregates (VMCQA)
Tags
Amber Amber List (moderate evidence)
CCDC78
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, centronuclear, 4, 614807
Tags
  • watchlist
Amber Amber List (moderate evidence)
CNTN1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Myopathy, congenital, Compton-North, 612540
Tags
  • watchlist
Amber Amber List (moderate evidence)
HACD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • congenital myopathy
Tags
  • watchlist
Amber Amber List (moderate evidence)
KY
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UCL
Phenotypes
  • congenital myopathy
Tags
  • watchlist
Amber Amber List (moderate evidence)
LAMP2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • vacuolar myopathy?
Tags
Amber Amber List (moderate evidence)
MTMR14
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • centronuclear myopathy
Tags
  • watchlist
Amber Amber List (moderate evidence)
MYBPC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • myopathy and cardiomyopathy
Tags
  • watchlist
Amber Amber List (moderate evidence)
MYL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • congenital myopathy
Tags
Amber Amber List (moderate evidence)
MYPN
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UCL
Phenotypes
  • Congenital cap myopathy
Tags
  • watchlist
Amber Amber List (moderate evidence)
NEFL
2 reviews
MONOALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UCL
Phenotypes
  • Nemaline Myopathy
Tags
  • watchlist
Amber Amber List (moderate evidence)
VPS33B
2 reviews
1 green
Not set
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • vacuolar myopathy?
Tags
Red Red List (low evidence)
ATP2A1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brody Myopathy
  • Brody myopathy, 601003
Tags
Red Red List (low evidence)
BAG3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 6, 612954
Tags
Red Red List (low evidence)
CAV3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, familial hypertrophic 192600
  • Creatine phosphokinase, elevated serum 123320
  • Long QT syndrome 9 611818
  • Muscular dystrophy, limb-girdle, type IC 607801
  • Myopathy, distal, Tateyama type 614321
  • Rippling muscle disease 606072
Tags
Red Red List (low evidence)
CHCHD10
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Myopathy, isolated mitochondrial, autosomal dominant 616209
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911
  • Spinal muscular atrophy, Jokela type 615048
Tags
  • adult-onset
Red Red List (low evidence)
COL9A3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969
Tags
Red Red List (low evidence)
CPT2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CPT II deficiency, infantile 600649
  • CPT II deficiency, lethal neonatal 608836
  • CPT II deficiency, myopathic, stress-induced 255110
Tags
Red Red List (low evidence)
CRYAB
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 2 608810
  • Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869
Tags
Red Red List (low evidence)
DES
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 1, 601419
  • Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
Tags
Red Red List (low evidence)
DMPK
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
DMPK_CTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
  • STR
Red Red List (low evidence)
DNAJB6
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myofibrillar Myopathy, Dominant
Tags
Red Red List (low evidence)
DYSF
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Miyoshi muscular dystrophy 1 254130
  • Muscular dystrophy, limb-girdle, type 2B 253601
  • Myopathy, distal, with anterior tibial onset 606768
Tags
Red Red List (low evidence)
ECEL1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Arthrogryposis, distal, type 5D 615065
Tags
Red Red List (low evidence)
FAM111B
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3)
Tags
Red Red List (low evidence)
FLNC
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 5, 609524
Tags
Red Red List (low evidence)
GFER
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
Tags
Red Red List (low evidence)
GNE
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nonaka myopathy 605820
Tags
Red Red List (low evidence)
HNRNPA1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
Tags
Red Red List (low evidence)
HRAS
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Costello syndrome 218040
  • Congenital myopathy with excess of muscle spindles 218040
Tags
Red Red List (low evidence)
ISCU
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy with lactic acidosis, hereditary, 255125
Tags
Red Red List (low evidence)
LDB3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myofibrillar Myopathy, Dominant
  • Myopathy, myofibrillar, 4, 609452
Tags
Red Red List (low evidence)
MATR3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amyotrophic lateral sclerosis 21 606070
Tags
  • adult-onset
Red Red List (low evidence)
MT-TL1
2 reviews
2 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
  • MELAS 540000
Tags
Red Red List (low evidence)
MYBPC1
2 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Arthrogryposis, distal, type 1B 614335
  • Lethal congenital contracture syndrome 4 614915
Tags
Red Red List (low evidence)
MYF6
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Centronuclear Myopathy, Dominant
  • Myopathy, centronuclear, 3, 614408
Tags
Red Red List (low evidence)
MYH14
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369
  • Deafness, autosomal dominant 4A 600652
Tags
Red Red List (low evidence)
MYOT
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 1A 159000
  • Myopathy, myofibrillar, 3 609200
  • Myopathy, spheroid body 182920
Tags
Red Red List (low evidence)
PIEZO2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Arthrogryposis
Tags
Red Red List (low evidence)
PNPLA2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutral Lipid Storage Disease with Myopathy
  • Neutral lipid storage disease with myopathy, 610717
Tags
Red Red List (low evidence)
PUS1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial myopathy and sideroblastic anemia 1, 600462
  • Myopathy, Lactic Acidosis, and Sideroblastic Anemia
Tags
Red Red List (low evidence)
RBCK1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polyglucosan body myopathy, early-onset, with or without immunodeficiency, 615895
Tags
Red Red List (low evidence)
SLC25A42
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction
Tags
Red Red List (low evidence)
SPTBN4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Myopathy, congenital, with neuropathy and deafness, 617519
Tags
Red Red List (low evidence)
STIM2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
TIA1
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Welander distal myopathy, 604454
Tags
Red Red List (low evidence)
TNNI2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Red
  • UKGTN
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 2B 601680
Tags
Red Red List (low evidence)
TNNT3
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Red
  • UKGTN
Phenotypes
  • Arthyrogryposis, distal, type 2B 601680
Tags
Red Red List (low evidence)
VCP
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954
  • Charcot-Marie-Tooth disease, type 2Y 616687
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
Tags
  • adult-onset
Red Red List (low evidence)
YARS2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Tags

Major version comments

Downloads

Download lists

Download Version