Description
Arthrogryposis Eligibility (29571.1)

Arthrogrythosis Inclusion Criteria
- Multiple congenital bilateral joint contractures
- EMG/NCV completed
- Creatinine kinase measured
- MRI brain if developmentally delayed or otherwise clinically indicated - TORCH screen if developmentally delayed and less than 6 months old - Maternal anti-acetylcholine receptor antibodies
- Consideration of skeletal survey to exclude skeletal dysplasia

Arthrogryposis Exclusion Criteria
- Isolated talipes/clubfoot
- Oligohydramnios
- Major structural CNS abnormalities likely to be causative of phenotype - Confident clinical diagnosis of amyoplasia

Arthrogrythopsis Gene
- If associated with other abnormalities, genome-wide copy number variation testing (e.g. aCGH, SNP array or other genomic microarray)

Prior Genetic Testing:
- Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
- Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
- Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND
- The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests:

These requirements will be kept under continual review during the main programme and may be subject to change.

9 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Andrea Haworth (ACGS, Congenica)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • julien thevenon (CHU de Dijon)

    Group: Other
    Workplace: Other clinical service

  • Julie Vogt (West Midlands Regional Genetics Service)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Emma Clement (Great Ormond Street Hospital)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

244 Entities

227 reviewed, 115 green

List Entity Reviews Mode of inheritance Details
244 Entitiess
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Expert list
  • 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
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nemaline myopathy 3, autosomal dominant or recessive 161800
  • Myopathy, actin, congenital, with excess of thin myofilaments 161800
  • Myopathy, actin, congenital, with cores 161800
  • nemaline myopathy
  • Nemaline myopathy 3, autosomal dominant or recessive, 161800Myopathy, actin, congenital, with excess of thin myofilaments, 161800Myopathy, actin, congenital, with cores, 161800Myopathy, congenital, with fiber-type disproportion 1, 255310
  • Nemaline Myopathy
  • CMD with rigid spine
Tags
Green Green List (high evidence)
ADAMTS10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Weill-Marchesani syndrome 1, recessive 277600
Tags
Green Green List (high evidence)
ADGRG6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 9 616503
Tags
Green Green List (high evidence)
ANTXR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyaline fibromatosis syndrome 228600
Tags
Green Green List (high evidence)
ASXL1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bohring-Opitz syndrome 605039
Tags
Green Green List (high evidence)
B3GALNT2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
  • congenital muscular dystrophies
Tags
Green Green List (high evidence)
B4GAT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Tags
Green Green List (high evidence)
CHAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myasthenic syndrome, congenital, associated with episodic apnea, 254210
Tags
Green Green List (high evidence)
CHRNA1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Myasthenic Syndrome, Dominant/Recessive
  • Myasthenic syndrome, slow-channel congenital, 601462Myasthenic syndrome, fast-channel congenital, 608930Multiple pterygium syndrome, lethal type, 253290
Tags
Green Green List (high evidence)
CHRNB1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Myasthenic Syndrome, Dominant/Recessive
  • Myasthenic syndrome, slow-channel congenital, 601462
Tags
Green Green List (high evidence)
CHRND
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myasthenic syndrome, congenital, 3A, slow-channel 616321
  • ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 616323
  • Multiple pterygium syndrome, lethal type 253290
  • Myasthenic syndrome, congenital, 3B, fast-channel 616322
Tags
Green Green List (high evidence)
CHRNE
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myasthenic syndrome, congenital, 4A, slow-channel 605809
  • Myasthenic syndrome, congenital, 4B, fast-channel 616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931
Tags
Green Green List (high evidence)
CHRNG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Escobar syndrome 265000
  • Multiple pterygium syndrome, lethal type 253290
  • Myasthenia gravis, neonatal transient (2)
Tags
Green Green List (high evidence)
CHST14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1 601776
Tags
Green Green List (high evidence)
CNTNAP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 7 616286
Tags
Green Green List (high evidence)
COL12A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ullrich congenital muscular dystrophy 2, bethlem myopathy 2
Tags
Green Green List (high evidence)
COL6A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ullrich congenital muscular dystrophy 1 254090
  • Bethlem myopathy 1 158810
  • Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090{Ossification of the posterior longitudinal spinal ligaments}, 602475 (2)
  • Bethlem myopathy
  • Ullrich Congenital Muscular Dystrophy
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
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ullrich congenital muscular dystrophy 1 254090
  • Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090Myosclerosis, congenital, 255600
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
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ullrich congenital muscular dystrophy 1 254090
  • Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090
Tags
Green Green List (high evidence)
COLQ
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myasthenic syndrome, congenital, 5 603034
Tags
Green Green List (high evidence)
CRLF1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cold-induced sweating syndrome 1 272430
Tags
Green Green List (high evidence)
DAG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • congenital muscular dystrophies
  • congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9
Tags
Green Green List (high evidence)
DNM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lethal congenital contracture syndrome 5 615368
Tags
Green Green List (high evidence)
DOK7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150
Tags
Green Green List (high evidence)
ECEL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, distal, type 5D, 615065
Tags
Green Green List (high evidence)
ERCC6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cockayne syndrome, type B 133540
Tags
Green Green List (high evidence)
ERCC8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cockayne syndrome, type A 216400
Tags
Green Green List (high evidence)
EXOSC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 1B 614678
Tags
Green Green List (high evidence)
FAM20C
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Raine syndrome 259775
Tags
Green Green List (high evidence)
FBN2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Contractural arachnodactyly, congenital 121050
Tags
Green Green List (high evidence)
FGFR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
Tags
Green Green List (high evidence)
FGFR3
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CATSHL syndrome 610474
Tags
Green Green List (high evidence)
FKBP10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bruck syndrome 1 259450
Tags
Green Green List (high evidence)
FKRP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
FKTN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fukuyama congenital muscular dystrophy
  • Fukuyama Congenital Muscular Dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
FLNB
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Tags
Green Green List (high evidence)
GBA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Gaucher disease, perinatal lethal 608013
Tags
Green Green List (high evidence)
GBE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease IV 232500
Tags
Green Green List (high evidence)
GLDN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 11 617194
Tags
Green Green List (high evidence)
GLE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lethal congenital contracture syndrome 1, 253310
  • Arthrogryposis, lethal, with anterior horn cell disease, 611890
  • lethal arthrogryposis with anterior horn cell disease
Tags
Green Green List (high evidence)
GMPPB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
HSPG2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Schwartz-Jampel syndrome, type 1 255800
Tags
Green Green List (high evidence)
IRF6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Popliteal pterygium syndrome 1 119500
Tags
Green Green List (high evidence)
ISPD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
KAT6B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Genitopatellar syndrome 606170
Tags
Green Green List (high evidence)
KIAA1109
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alkuraya-Kucinskas syndrome 617822
Tags
Green Green List (high evidence)
KLHL40
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nemaline myopathy 8, autosomal recessive, 615348
Tags
Green Green List (high evidence)
KLHL41
1 review
1 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)
KLHL7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cold-induced sweating syndrome 3 617055
Tags
Green Green List (high evidence)
LAMA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Muscular Dystrophy, LAMA2-related
  • Muscular dystrophy, congenital merosin-deficient, 607855
Tags
Green Green List (high evidence)
LARGE1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
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)
LMOD3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nemaline myopathy 10 616165
Tags
Green Green List (high evidence)
MTM1
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • X-linked myotubular myopathy
  • Myotubular myopathy, X-linked, 310400
Tags
Green Green List (high evidence)
MUSK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fetal akinesia deformation sequence 208150
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325
Tags
Green Green List (high evidence)
MYBPC1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, distal, type 1B, 614335
  • Lethal congenital contracture syndrome 4, 614915
  • Distal Arthrogryposis
Tags
Green Green List (high evidence)
MYH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Expert list
  • 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
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Arthrogryposis, distal, type 2A, 193700
  • Arthrogryposis, distal, type 2B, 601680
  • Arthrogryposis Multiplex Congenita
Tags
Green Green List (high evidence)
MYH7
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Laing Distal Myopathy
  • Cardiomyopathy, familial hypertrophic, 1, 192600
  • Myopathy, myosin storage, autosomal recessive 255160
  • Myopathy, myosin storage, autosomal dominant 608358
Tags
Green Green List (high evidence)
MYH8
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Trismus-pseudocamptodactyly syndrome (ARTHROGRYPOSIS, DISTAL, TYPE 7
  • DA7) 158300
Tags
Green Green List (high evidence)
NALCN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay 616266
Tags
Green Green List (high evidence)
NEB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Expert list
  • 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)
PEX1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger) 214100
Tags
Green Green List (high evidence)
PEX10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger) 614870
Tags
Green Green List (high evidence)
PEX11B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 14B 614920
Tags
Green Green List (high evidence)
PEX12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger) 614859
Tags
Green Green List (high evidence)
PEX13
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger)
Tags
Green Green List (high evidence)
PEX14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger) 614883
Tags
Green Green List (high evidence)
PEX16
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 8A (Zellweger) 614876
Tags
Green Green List (high evidence)
PEX19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger) 614886
Tags
Green Green List (high evidence)
PEX2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger) 614866
Tags
Green Green List (high evidence)
PEX26
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) 614872
Tags
Green Green List (high evidence)
PEX3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Tags
Green Green List (high evidence)
PEX5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger) 214110
Tags
Green Green List (high evidence)
PEX6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger) 614862
Tags
Green Green List (high evidence)
PEX7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 1 215100
Tags
Green Green List (high evidence)
PFKM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Glycogen storage disease VII 232800
Tags
Green Green List (high evidence)
PIEZO2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Marden-Walker syndrome, 248700
  • Arthrogryposis, distal, type 3, 114300
  • Arthrogryposis, distal, type 5, 108145
Tags
Green Green List (high evidence)
PLOD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ehlers-Danlos syndrome, type VI 225400
Tags
Green Green List (high evidence)
PLOD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bruck syndrome 2 609220
Tags
Green Green List (high evidence)
POMGNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
POMGNT2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type
  • Walker-Warburg syndrome
Tags
Green Green List (high evidence)
POMK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
Tags
Green Green List (high evidence)
POMT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
POMT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
POR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
Tags
Green Green List (high evidence)
PRG4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250
Tags
Green Green List (high evidence)
RAPSN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Myasthenic Syndrome, Recessive
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency,
Tags
Green Green List (high evidence)
RIPK4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Popliteal pterygium syndrome, Bartsocas-Papas type 263650
Tags
Green Green List (high evidence)
RYR1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Malignant hyperthermia susceptibility 1}, 145600
  • congenital muscular dystrophies
  • Minicore myopathy with external ophthalmoplegia 255320
Tags
Green Green List (high evidence)
SCARF2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Van den Ende-Gupta syndrome 600920
Tags
Green Green List (high evidence)
SCN4A
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital Myasthenic Syndrome, Recessive
  • Hyperkalemic periodic paralysis, type 2, 170500
Tags
Green Green List (high evidence)
SKI
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Shprintzen-Goldberg syndrome 182212
Tags
Green Green List (high evidence)
SLC5A7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic 617143
Tags
Green Green List (high evidence)
SMAD3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Loeys-Dietz syndrome 3 613795
Tags
Green Green List (high evidence)
SMAD4
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myhre syndrome 139210
Tags
Green Green List (high evidence)
TGFB2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Loeys-Dietz syndrome 4 614816
Tags
Green Green List (high evidence)
TGFB3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome 5 615582
Tags
Green Green List (high evidence)
TGFBR1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Loeys-Dietz syndrome 1 609192
Tags
Green Green List (high evidence)
TGFBR2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Loeys-Dietz syndrome 2 610168
Tags
Green Green List (high evidence)
TMEM5
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
  • new-gene-name
Green Green List (high evidence)
TNNI2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 2B, 601680
  • Arthrogryposis Multiplex Congenita
  • Distal Arthrogryposis Multiplex Congenita
  • Arthrogryposis, Distal, Type 2B
Tags
Green Green List (high evidence)
TNNT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Expert list
  • 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)
TNNT3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Arthrogryposis Multiplex Congenita
  • Distal Arthrogryposis Multiplex Congenita
  • Distal Arthrogryposis Type 1
  • Distal Arthrogryposis Type 2B
Tags
Green Green List (high evidence)
TPM2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 1, 108120
  • Arthrogryposis, distal, type 2B, 601680
  • Nemaline myopathy 4, autosomal dominant, 609285
  • CAP myopathy 2, 609285
  • Arthrogryposis Multiplex Congenita
  • Arthrogryposis, Distal, Type 1A
  • DA1A
  • Arthrogryposis, Distal, Type 2B
  • DA2B
  • distal arthrogryposis
  • Escobar syndrome
  • congenital myopathy
  • nemaline myopathy
  • Nemaline Myopathy, Dominant
Tags
Green Green List (high evidence)
TPM3
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • nemaline myopathy
  • Nemaline Myopathy
  • Nemaline myopathy 1, autosomal dominant or recessive, 609284
  • Myopathy, congenital, with fiber-type disproportion 255310
Tags
Green Green List (high evidence)
TRPV4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Spinal muscular atrophy, distal, congenital nonprogressive 600175
  • Metatropic dysplasia 156530
Tags
Green Green List (high evidence)
TSEN54
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pontocerebellar hypoplasia type 4 225753
Tags
Green Green List (high evidence)
UBA1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile 301830
Tags
Green Green List (high evidence)
VIPAS39
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
  • arthrogryposis, renal dysfunction and cholestasis syndrome (ARC)
Tags
Green Green List (high evidence)
VPS33B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Arthrogryposis, Renal Dysfunction, And Cholestasis 1
  • arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Tags
Green Green List (high evidence)
ZC4H2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Wieacker-Wolff syndrome 314580
Tags
Green Green List (high evidence)
ZMPSTE24
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Restrictive dermopathy, lethal 275210
Tags
Amber Amber List (moderate evidence)
DPM2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
Phenotypes
  • congenital muscular dystrophies
  • congenital muscular dystrophies. DPM2-CDG . Musclular dystrophy dystroglycanopathy syndrome with severe epilepsy.
Tags
Amber Amber List (moderate evidence)
ERBB3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lethal congenital contractural syndrome 2 607598
Tags
  • founder-effect
Amber Amber List (moderate evidence)
ORAI1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Myopathy, tubular aggregate, 1 160565
Tags
Amber Amber List (moderate evidence)
PIP5K1C
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Lethal congenital contractural syndrome 3 611369
Tags
  • founder-effect
Amber Amber List (moderate evidence)
SMPD4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Research
Phenotypes
  • cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis
Tags
  • watchlist
Amber Amber List (moderate evidence)
STIM1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myopathy, tubular aggregate, 160565
  • Stormorken syndrome 185070
Tags
  • missense
Red Red List (low evidence)
ABHD5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Chanarin-Dorfman syndrome 275630
Tags
Red Red List (low evidence)
ACADM
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
ACADS
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
ACADVL
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
ADCY6
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 8 616287
Tags
Red Red List (low evidence)
ADSL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
AGL
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
AGRN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myasthenia, limb-girdle, familial, 254300
Tags
Red Red List (low evidence)
AIMP1
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
ALG14
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
ALG2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
Tags
Red Red List (low evidence)
ANO5
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gnathodiaphyseal dysplasia, 166260
  • Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Red Red List (low evidence)
ANXA3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • unknown equinus deformity
Tags
Red Red List (low evidence)
ATP2A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 6, 612954Cardiomyopathy, dilated, 1HH, 613881
  • Myofibrillar Myopathy, Dominant
Tags
Red Red List (low evidence)
BICD2
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
BIN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Centronuclear Myopathy, Recessive
  • Myopathy, centronuclear, autosomal recessive, 255200
Tags
Red Red List (low evidence)
CAPN3
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
CAV3
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type IC, 607801Rippling muscle disease, 606072Creatine phosphokinase, elevated serum, 123320Myopathy, distal, Tateyama type, 614321Cardiomyopathy, familial hypertrophic, 192600
Tags
Red Red List (low evidence)
CCDC78
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, centronuclear, 4, 614807
Tags
Red Red List (low evidence)
CFL2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nemaline myopathy 7, autosomal recessive, 610687
  • Nemaline Myopathy, Recessive
Tags
Red Red List (low evidence)
CHCHD10
0 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Tags
Red Red List (low evidence)
CHKB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital Muscular Dystrophy, CKHB-related
  • Muscular dystrophy, congenital, megaconial type, 602541
Tags
Red Red List (low evidence)
CLCF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
CNTN1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, congenital, Compton-North, 612540
Tags
Red Red List (low evidence)
COL4A1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • walker warburg syndrome, muscle eye brain disease
Tags
Red Red List (low evidence)
COL4A2
1 review
1 red
Not set
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
COL9A3
0 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epiphyseal dysplasia, multiple, 3, 600969Epiphyseal dysplasia, multiple, with myopathy{Intervertebral disc disease, susceptibility to}, 603932
Tags
Red Red List (low evidence)
CPT2
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy due to CPT II deficiency, 255110
Tags
Red Red List (low evidence)
CRYAB
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 2, 608810Cataract 16, multiple types, 613763Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869Cardiomyopathy, dilated, 1II, 615184
  • Myofibrillar Myopathy, Dominant
Tags
Red Red List (low evidence)
CTDP1
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
CUL4B
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
DES
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • myofibrillar myopathy
  • Myopathy, myofibrillar, 1, 601419Cardiomyopathy, dilated, 1I, 604765Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400?Muscular dystrophy, limb-girdle, type 2R, 615325
  • Myofibrillar Myopathy, Dominant
Tags
Red Red List (low evidence)
DMD
2 reviews
1 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045
  • Duchenne or Becker muscular dystrophy
Tags
Red Red List (low evidence)
DMPK
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
Red Red List (low evidence)
DNAJB6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myofibrillar Myopathy, Dominant
Tags
Red Red List (low evidence)
DOLK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • CDG Im
Tags
Red Red List (low evidence)
DPAGT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital disorder of glycosylation, type Ij, 608093Myasthenic syndrome, congenital, with tubular aggregates 2, 614750
Tags
Red Red List (low evidence)
DPM1
2 reviews
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • congenital muscular dystrophies
Tags
Red Red List (low evidence)
DPM3
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • congenital muscular dystrophies
Tags
Red Red List (low evidence)
DUX4
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Facioscapulohumeral Muscular Dystrophy 1A
Tags
Red Red List (low evidence)
DYSF
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130
  • Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768
  • Miyoshi muscular dystrophy 1, 254130
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Red Red List (low evidence)
EGR2
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
EMD
3 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Tags
Red Red List (low evidence)
ETFA
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Glutaric acidemia IIA 231680
Tags
Red Red List (low evidence)
ETFB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Glutaric acidemia IIB 231680
Tags
Red Red List (low evidence)
ETFDH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Glutaric acidemia IIC 231680
Tags
Red Red List (low evidence)
FAM111B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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)
FHL1
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
FKBP14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,
Tags
Red Red List (low evidence)
FLNC
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 5, 609524
Tags
Red Red List (low evidence)
GAA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
GARS
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
GDAP1
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
GFER
1 review
Not set
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)
GFPT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Myasthenic Syndrome, Recessive
  • Myasthenia, congenital, with tubular aggregates 1, 610542
Tags
Red Red List (low evidence)
GNE
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nonaka myopathy 605820
Tags
Red Red List (low evidence)
GRN
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485Myasthenia, limb-girdle, familial, 254300
Tags
Red Red List (low evidence)
HADH
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
HADHA
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
HADHB
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
HNRNPA1
1 review
Not set
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Bladder cancer, somatic}, 109800Costello syndrome, 218040{Thyroid carcinoma, follicular, somatic}, 188470Congenital myopathy with excess of muscle spindles, 218040{Nevus sebaceous, somatic}, 162900Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
Tags
Red Red List (low evidence)
IBA57
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 3 615330
Tags
Red Red List (low evidence)
IGHMBP2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Neuronopathy, distal hereditary motor, type VI 604320
Tags
Red Red List (low evidence)
ISCU
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy with lactic acidosis, hereditary, 255125
Tags
Red Red List (low evidence)
ITGA7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital Muscular Dystrophy, ITGA7-related
  • Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204
Tags
Red Red List (low evidence)
KBTBD13
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nemaline Myopathy, Dominant
  • Nemaline myopathy 6, autosomal dominant, 609273
Tags
Red Red List (low evidence)
LAMP2
1 review
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Danon disease 300257
Tags
Red Red List (low evidence)
LDB3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myofibrillar Myopathy, Dominant
  • Myopathy, myofibrillar, 4, 609452
Tags
Red Red List (low evidence)
LMNA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Muscular Dystrophy, LMNA-related (Dominant)
  • Emery-Dreifuss muscular dystrophy 2, AD, 181350
Tags
Red Red List (low evidence)
LPIN1
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
MATR3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amyotrophic lateral sclerosis 21 606070
Tags
Red Red List (low evidence)
MEGF10
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • Expert list
  • 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
Red Red List (low evidence)
MFN2
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
MICU1
2 reviews
1 green
Not set
Sources
  • Expert Review
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy with extrapyramidal signs, 615673 (3)
  • myopathy with extrapyramidal signs
Tags
Red Red List (low evidence)
MPZ
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Neuropathy, congenital hypomyelinating 605253
Tags
Red Red List (low evidence)
MT-TL1
1 review
MITOCHONDRIAL
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
MTMR1
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
MYF6
1 review
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
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal dominant 4A, 600652Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Tags
Red Red List (low evidence)
MYO9A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Arthrogryposis
  • OrphaNet: ORPHA109007
Tags
Red Red List (low evidence)
MYOT
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spheroid Body Myopathy
  • Muscular dystrophy, limb-girdle, type 1A, 159000
Tags
Red Red List (low evidence)
NEFL
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
NEK9
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Arthrogryposis, Perthes disease, and upward gaze palsy 614262
Tags
Red Red List (low evidence)
PABPN1
3 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Oculopharyngeal muscular dystrophy, 164300
  • Oculopharyngeal muscular dystrophy
Tags
Red Red List (low evidence)
PI4KA
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531
Tags
Red Red List (low evidence)
PLEC
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy with epidermolysis bullosa simplex, 226670
Tags
Red Red List (low evidence)
PNPLA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • 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)
POLG
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
PSD3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Phenotypes
  • Antecubital pterygium syndrome
Tags
Red Red List (low evidence)
PUS1
1 review
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)
PYGM
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
RBCK1
1 review
Not set
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)
RRM2B
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
SGCA
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
SGCB
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
SGCD
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
SGCG
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
SIL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
SLC22A5
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
SLC25A4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • mitochondrial myopathy
Tags
Red Red List (low evidence)
SLC25A42
1 review
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)
SLC35A3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Arthrogryposis, mental retardation, and seizures 615553
Tags
Red Red List (low evidence)
SLC52A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
SMCHD1
3 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fascioscapulohumeral muscular dystrophy 2, digenic, 158901
Tags
Red Red List (low evidence)
STAC3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Native American myopathy, 255995 (3)
Tags
  • founder-effect
Red Red List (low evidence)
STIM2
1 review
Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
SYNE1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Emery-Dreifuss Muscular Dystrophy
  • Spinocerebellar ataxia, autosomal recessive 8, 610743
Tags
Red Red List (low evidence)
SYNE2
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Emery-Dreifuss Muscular Dystrophy
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999
Tags
Red Red List (low evidence)
SYT2
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy, 616040
Tags
Red Red List (low evidence)
TCAP
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
Phenotypes
  • Congenital muscular dystrophies
Tags
Red Red List (low evidence)
TIA1
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Welander distal myopathy, 604454
Tags
Red Red List (low evidence)
TK2
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
TMEM43
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5, 604400
Tags
Red Red List (low evidence)
TRIM32
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
TSEN2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
TSEN34
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia type 2C 612390
Tags
Red Red List (low evidence)
TTN
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hereditary Myopathy with Early Respiratory Failure
  • Cardiomyopathy, familial hypertrophic, 9, 613765
  • Hereditary Myopathy with Early Respiratory Failure (dominant)
  • Udd Distal Myopathy (Dominant)
  • Salih Myopathy (recessive)
  • core myopathy with heart disease
Tags
Red Red List (low evidence)
UTRN
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
VCP
1 review
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 Inclusion body myopathy,Paget disease and frontotemporal dementia 1, 167320
  • Inclusion Body Myopathy, Dominant
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Tags
Red Red List (low evidence)
VPS8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Arthrogryposis
  • OrphaNet ORPHA1037
  • OMIM108120
Tags
Red Red List (low evidence)
YARS2
1 review
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