Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
-
Literature
Phenotypes
- Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
Phenotypes
- Rhabdomyolysis
- Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- VLCAD deficiency, 201475
- metabolic myopathy
- rhabdomyolsis
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
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)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Nemaline myopathy 3, 161800
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
Phenotypes
- Multiple structured Core Disease
- progressive early-onset muscle weakness
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
-
Literature
Phenotypes
- Myopathy, distal, 5, 617030
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
Phenotypes
- Glycogen storage disease IIIa 232400
- Glycogen storage disease IIIb 232400
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital myasthenic syndrome
- Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
Phenotypes
- Glycogen storage disease XII 611881
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
-
Eligibility statement prior genetic testing
Phenotypes
- Congenital myasthenic syndrome
- ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Congenital myasthenic syndromes
- Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
- Congenital disorder of glycosylation CDG type Ii, 607906
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Miyoshi muscular dystrophy 3, 613319
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Miyoshi muscular dystrophy 3 613319
- Muscular dystrophy, limb-girdle, type 2L 611307
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review Green
-
Eligibility statement prior genetic testing
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Gnathodiaphyseal dysplasia, 166260
- Muscular dystrophy, limb-girdle, type 2L, 611307
- Miyoshi muscular dystrophy 3, 613319
- Limb-girdle muscular dystrophy
- Limb-Girdle Muscular Dystrophy, Recessive
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Green
Green List (high evidence)
|
STR
|
1 review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Tags
|
Green
Green List (high evidence)
|
STR
|
1 review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Emory Genetics Laboratory
-
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)
|
|
5 reviews
2 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
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)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Myopathy, myofibrillar, 6, 612954
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- myofibrillar myopathy 6, 612954
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
Phenotypes
- Centronuclear Myopathy, Recessive
- Myopathy, centronuclear, autosomal recessive, 255200
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert Review
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
Phenotypes
- {Malignant hyperthermia susceptibility 5}, 601887
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Eligibility statement prior genetic testing
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy, limb-girdle, type 2A, 253600
- Limb-Girdle Muscular Dystrophy, Recessive
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Muscular dystrophy, limb-girdle, type IC 607801
- Myopathy, distal, Tateyama type 614321
- Rippling muscle disease 606072
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Limb-Girdle Muscular Dystrophy, Dominant
- Muscular dystrophy, limb-girdle, type IC, 607801
- Rippling muscle disease, 606072
- Creatine phosphokinase, elevated serum, 123320
- Myopathy, distal, Tateyama type, 614321
- Cardiomyopathy, familial hypertrophic, 192600
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
-
Expert
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Myopathy, centronuclear, 4, 614807
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
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)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Myasthenic syndrome, congenital, 6, presynaptic, 254210
- Congenital myasthenics sndrome associated with episodic apnea
- CMS-EA
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Spinal muscular atrophy, Jokela type 615048
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Congenital Muscular Dystrophy, CKHB-related
- Muscular dystrophy, congenital, megaconial type, 602541
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Congenital Myasthenic Syndrome, Dominant/Recessive
- Myasthenic syndrome, congenital, 1A, slow-channel, 601462
- Myasthenic syndrome, congenital, 1B, fast-channel, 608930
- Slow channel myasthenic syndrome
- fast channel myasthenic syndrome
- Acetylcholine receptor deficiency syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
- Myasthenic syndrome, congenital, 2A, slow-channel, 616313
- Slow channel myasthenic syndrome
- fast channel myasthenic syndrome
- Acetylcholine receptor deficiency syndrome
- Myasthenic syndrome, slow-channel congenital, 601462
- Congenital Myasthenic Syndrome, Dominant/Recessive
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Congenital Myasthenic Syndrome, Dominant/Recessive
- Myasthenic syndrome, slow-channel congenital, 601462
- Slow channel myasthenic syndrome
- fast channel myasthenic syndrome
- Acetylcholine receptor deficiency syndrome
- ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321
- ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323
- Myasthenic syndrome, congenital, 3B, fast-channel, 616322
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
Phenotypes
- Congenital Myasthenic Syndrome, Dominant/Recessive
- Myasthenic syndrome, slow-channel congenital, 601462
- Myasthenic syndrome, congenital, 4A, slow-channel, 605809
- Myasthenic syndrome, congenital, 4B, fast-channel, 616324
- Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
- Slow channel myasthenic syndrome
- fast channel myasthenic syndrome
- Acetylcholine receptor deficiency syndrome
- Reduced channel conductance syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Myasthenia gravis, neonatal transient
- Neonatal congenital myasthenia
- escobar syndrome
- fetal akinesia deformation sequence syndrome/FADS
- multiple pterygium syndrome/MPS
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
UCL
Phenotypes
- EDS/myopathy overlap syndrome
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert Review
Phenotypes
- Ullrich congenital muscular dystrophy 2
- Bethlem myopathy 2
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Literature
-
Eligibility statement prior genetic testing
Phenotypes
- Congenital myasthenic syndrome type 19
- Myasthenic syndrome, congenital, 19, 616720
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Bethlem myopathy 1 158810
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Bethlem myopathy, 158810
- Ullrich congenital muscular dystrophy, 254090
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Bethlem myopathy, 158810
- Ullrich congenital muscular dystrophy, 254090
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
Phenotypes
- Bethlem myopathy 1 158810
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Bethlem myopathy, 158810
- Ullrich congenital muscular dystrophy, 254090
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Bethlem myopathy, 158810
- Ullrich congenital muscular dystrophy, 254090
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Bethlem myopathy, 158810
- Ullrich congenital muscular dystrophy, 254090
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
Phenotypes
- Bethlem myopathy 1 158810
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Bethlem myopathy, 158810
- Ullrich congenital muscular dystrophy, 254090
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Congenital Myasthenic Syndrome, Recessive
- Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency
- Myasthenic syndrome, congenital, 5, 603034
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- CPT II deficiency, infantile, 600649
- metabolic myopathy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Cataract 16, multiple types, 613763
- myofibrillar myopathy
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Eligibility statement prior genetic testing
Phenotypes
- Myopathy, myofibrillar 2, 608810
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Yorkshire and North East GLH
-
NHS GMS
-
South West GLH
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
- Limb girdle muscular dystrophy
- congenital muscular dystrophy
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- congenital muscular dystrophies
- congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
- Walker-Warburg syndrome
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Eligibility statement prior genetic testing
Phenotypes
- Myopathy, myofibrillar 1, 601419
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
3 green
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Yorkshire and North East GLH
-
NHS GMS
-
South West GLH
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy, limb-girdle, type 2R, 615325
- myofibrillar myopathy
- cardiomyopathy
- limb girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
3 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 Green
-
Eligibility statement prior genetic testing
Phenotypes
- Duchenne muscular dystrophy 310200
- Becker muscular dystrophy 300376
Tags
- gene-therapy-trial
- Skewed X-inactivation
|
Green
Green List (high evidence)
|
|
2 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Becker muscular dystrophy 300376
Tags
- gene-therapy-trial
- Skewed X-inactivation
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
NHS GMS
-
Expert Review Green
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Duchenne muscular dystrophy, 310200
- Becker muscular dystrophy, 300376
Tags
- gene-therapy-trial
- Skewed X-inactivation
|
Green
Green List (high evidence)
|
STR
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Myotonic dystrophy 1 160900
Tags
|
Green
Green List (high evidence)
|
STR
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Myotonic dystrophy 1 160900
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Limb-Girdle Muscular Dystrophy, Dominant
- Muscular dystrophy, limb-girdle, type 1E, 603511
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- limb-girdle muscular dystrophy type 1E, 603511
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Myopathy, centronuclear, 160150
- Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Myopathy, centronuclear, 160150
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Congenital myasthenic syndrome
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
Phenotypes
- Fetal akinesia deformation sequence, 208150
- Myasthenic syndrome, congenital, 10, 254300
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Myasthenic syndrome, congenital, 10, 254300
- Myasthenia, limb-girdle, familial
- Limb girdle congenital myasthenic syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert Review
Phenotypes
- Congenital disorder of glycosylation, type Im
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
UKGTN
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type Ij, 608093
- Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750
- Limb girdle congenital myasthenic
- tubular aggregates
- congenital disorder of glycosylation type Ij (CDG-IJ)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Emory Genetics Laboratory
Phenotypes
- musclular dystrophy dystroglycanopathy syndrome with severe epilepsy
- Congenital disorder of glycosylation, type Iu 615042
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Spinal muscular atrophy, lower extremity-predominant, AD, 158600
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Miyoshi muscular dystrophy 1 254130
- Muscular dystrophy, limb-girdle, type 2B 253601
- Myopathy, distal, with anterior tibial onset 606768
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130
- Limb-Girdle Muscular Dystrophy, Recessive
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Miyoshi muscular dystrophy 1, 254130
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
-
Expert
Phenotypes
- Arthrogryposis, distal, type 5D, 615065
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
Phenotypes
- ?Glycogen storage disease XIII 612932
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert Review
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
Literature
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
Phenotypes
- Glutaric acidemia IIA 231680
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
Literature
-
UKGTN
Phenotypes
- Glutaric acidemia IIB 231680
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Glutaric acidemia IIC 231680
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Pontocerebellar hypoplasia, type 1B 614678
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Emery-Dreifuss muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert Review
Phenotypes
- Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717
- Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
Tags
|
Green
Green List (high evidence)
|
|
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
-
Expert Review Green
-
Expert Review
Phenotypes
- Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
Tags
|
Green
Green List (high evidence)
|
|
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 6, 14557
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
UKGTN
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
UKGTN
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
- Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Eligibility statement prior genetic testing
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800
- Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152
- Cardiomyopathy, dilated, 1X, 611615
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
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)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
Literature
-
UKGTN
Phenotypes
- Fukuyama congenital muscular dystrophy
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
-
Emory Genetics Laboratory
Phenotypes
- Myopathy, distal, 4, OMIM:614065
- Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
- Myopathy, myofibrillar, 5, OMIM:609524
- Myopathy, myofibrillar, 5, MONDO:0012289
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Myopathy, distal, 4, OMIM:614065
- Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
- Myopathy, myofibrillar, 5, OMIM:609524
- Myopathy, myofibrillar, 5, MONDO:0012289
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Congenital multi-minicore myopathy
- ?Myopathy, congenital proximal, with minicore lesions #618823
- ?Myopathy, congenital, with respiratory insufficiency and bone fractures #618822
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Glycogen storage disease II 232300
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Glycogen storage disease II 232300
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Glycogen storage disease IV 232500
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Congenital Myasthenic Syndrome, Recessive
- Myasthenia, congenital, 12, with tubular aggregates, 610542
- Limb-girdle congenital myasthenic syndrome
- tubular aggregates
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Eligibility statement prior genetic testing
Phenotypes
- Congenital Myasthenic Syndrome
- muscular dystrophy-dystroglycanopathy
- congenital muscular dystrophy with mental retardation
- GMPPB-CMS
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
- MDDGC14 with features of CMS
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
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)
|
|
6 reviews
2 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Yorkshire and North East GLH
-
NHS GMS
-
South West GLH
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Nonaka myopathy, 605820
- Distal myopathy
- Limb girdle muscular dystrophy
- Limb-girdle muscular dystrophy
- quadriceps sparing myopathy
- distal myopathy
- Nonaka myopathy, HIBM
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Radboud University Medical Center, Nijmegen
-
Expert Review Green
-
UKGTN
Phenotypes
- ?Glycogen storage disease XV 613507
- Polyglucosan body myopathy 2 616199
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Glycogen storage disease 0, muscle 611556
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Literature
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
Phenotypes
- Trifunctional protein deficiency 609015
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Trifunctional protein deficiency 609015
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Yorkshire and North East GLH
-
NHS GMS
-
South West GLH
-
Literature
Phenotypes
- Muscular dystrophy, limb-girdle, type 1G 609115
- Limb girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Neuropathy, distal hereditary motor type IIB, 608634
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Neuropathy, distal hereditary motor type IIA, 158590
- distal myopathy
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Spinal muscular atrophy with respiratory distress, 604320
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Literature
Phenotypes
- Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
- Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Tags
|
Green
Green List (high evidence)
|
ISCA-37404-Loss
Region
|
0 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
ClinGen
Phenotypes
- microcephaly
- 105833
- Developmental delay, muscle weakness
- Mental retardation
- Angelman syndrome
- 176270
- Prader-Willi syndrome
Tags
|
Green
Green List (high evidence)
|
ISCA-37408-Loss
Region
|
0 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
ClinGen
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)
|
ISCA-37408-Loss
Region
|
0 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
ClinGen
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)
|
ISCA-37420-Loss
Region
|
0 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
ClinGen
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)
|
ISCA-37420-Loss
Region
|
0 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
ClinGen
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)
|
ISCA-37429-Loss
Region
|
0 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
ClinGen
Phenotypes
- 194190
- Wolf-Hirschhorn syndrome
Tags
|
Green
Green List (high evidence)
|
ISCA-37429-Loss
Region
|
0 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
ClinGen
Phenotypes
- 194190
- Wolf-Hirschhorn syndrome
Tags
|
Green
Green List (high evidence)
|
ISCA-37478-Loss
Region
|
0 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
ClinGen
Phenotypes
- microcephaly
- Developmental delay, muscle weakness
- Mental retardation
- Angelman syndrome
- 176270
- Prader-Willi syndrome
- 105830
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Myopathy with lactic acidosis, hereditary 255125
Tags
- for-review
- non-coding-known-pathogenic
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Congenital Muscular Dystrophy, alpha-dystroglycan related
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- Walker-Warburg syndrome (WWS)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
- 614643
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
- 616052
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Yorkshire and North East GLH
-
NHS GMS
-
South West GLH
-
Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052
- congenital muscular dystrophy
- limb girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Congenital Muscular Dystrophy, ITGA7-related
- Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
Phenotypes
- Nemaline Myopathy, Dominant
- Nemaline myopathy 6, autosomal dominant, 609273
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Nemaline myopathy 8, autosomal recessive, 615348
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Nemaline myopathy 9, 615731
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Congenital Muscular Dystrophy, LAMA2-related
- Muscular dystrophy, congenital merosin-deficient, 607855
- Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855
- congenital muscular dystroph
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 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 Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Green
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Congenital Muscular Dystrophy, alpha-dystroglycan related
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Eligibility statement prior genetic testing
Phenotypes
- Myopathy, myofibrillar 4, 609452
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Glycogen storage disease XI 612933
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Congenital Muscular Dystrophy, LMNA-related (Dominant)
- Emery-Dreifuss muscular dystrophy 2, AD, 181350
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
Phenotypes
- Congenital fiber type disproportion myopathy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Eligibility statement prior genetic testing
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Limb-Girdle Muscular Dystrophy, Recessive
- Emery-Dreifuss muscular dystrophy 2, AD, 181350
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Literature
Phenotypes
- Nemaline myopathy 10 616165
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Myoglobinuria, acute recurrent, autosomal recessive, 268200
- myoglobinuria
- exercise induced myopathy
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Myoglobinuria, acute recurrent, autosomal recessive 268200
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Eligibility statement prior genetic testing
Phenotypes
- Congenital myasthenic syndrome
- Myasthenic syndrome, congenital, 17, 616304
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
UCL
Phenotypes
- congenital myopathy with fibre type disproportion
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia
- Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Myopathy with extrapyramidal signs, 615673
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert Review
Phenotypes
- Myopathy with extrapyramidal signs, 615673
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
Phenotypes
- Congenital muscular dystrophy with Brain involvment
- Myopathy, mitochondrial, and ataxia, 617675
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
Phenotypes
- X-linked myotubular myopathy
- Myotubular myopathy, X-linked, 310400
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
-
Expert Review Green
-
Expert list
-
Literature
Phenotypes
- Myotubular myopathy, X-linked, 310400
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325
- Congenital Myasthenic Syndrome, Recessive
- Congenital myasthenic syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
-
Expert
Phenotypes
- Arthrogryposis, distal, type 1B, 614335
- Lethal congenital contracture syndrome 4, 614915
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
Phenotypes
- Proximal myopathy and ophthalmoplegia 605637
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
UKGTN
Phenotypes
- Arthrogryposis, distal, type 2A 193700
- Arthrogryposis, distal, type 2B 601680
- Arthrogryposis, distal, type 8 178110
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Laing distal myopathy, OMIM:160500
- Laing early-onset distal myopathy, MONDO:0008050
- Scapuloperoneal syndrome, myopathic type, OMIM:181430
- MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Laing distal myopathy, OMIM:160500
- Laing early-onset distal myopathy, MONDO:0008050
- Scapuloperoneal syndrome, myopathic type, OMIM:181430
- MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409
- Cardiomyopathy, hypertrophic, 1, OMIM:192600
- Hypertrophic cardiomyopathy 1, MONDO:0008647
- Cardiomyopathy, dilated, 1S, OMIM:613426
- Dilated cardiomyopathy 1S, MONDO:0013262
- Myopathy, myosin storage, autosomal dominant, OMIM:608358
- Myopathy, myosin storage, autosomal dominant, MONDO:0012018
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
Phenotypes
- Laing distal myopathy, OMIM:160500
- Laing early-onset distal myopathy, MONDO:0008050
- Myopathy, myosin storage, autosomal dominant, OMIM:608358
- Myopathy, myosin storage, autosomal dominant, MONDO:0012018
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
UKGTN
Phenotypes
- Trismus-pseudocamptodactyly syndrome, 158300
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
-
Expert Review
Phenotypes
- congenital myopathy
- Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Literature
Phenotypes
- Carey-Fineman-Ziter syndrome 254940
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Literature
Phenotypes
- Carey-Fineman-Ziter syndrome, 254940
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert Review
Phenotypes
- KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
-
Literature
Phenotypes
- congenital myasthenic syndrome 24, presynaptic 618198
- CMS
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Eligibility statement prior genetic testing
Phenotypes
- Myopathy, myofibrillar 3, 609200
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Limb-Girdle Muscular Dystrophy, Dominant
- Muscular dystrophy, limb-girdle, type 1A, 159000
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
-
UCL
Phenotypes
- Congenital cap myopathy
- Nemaline myopathy, 617336
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- nemaline myopathy
- Nemaline Myopathy, Recessive
- Nemaline myopathy 2, autosomal recessive, 256030
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Nemaline myopathy 2, 256030
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Yorkshire and North East GLH
-
NHS GMS
-
Expert Review
Phenotypes
- Myopathy, tubular aggregate, 2, 615883
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
UKGTN
Phenotypes
- Myopathy, tubular aggregate, 2 615883
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert Review
Phenotypes
- Hypotonia
- Axial hypotonia
- Ptosis
- Scoliosis
- Delayed motor milestones
- Myopathy, congenital, progressive, with scoliosis, 618578
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Glycogen storage disease VII, 232800
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Glycogen storage disease VII 232800
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
Phenotypes
- Glycogen storage disease X 261670
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Phosphoglycerate kinase 1 deficiency 300653
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
Literature
-
UKGTN
Phenotypes
- Congenital disorder of glycosylation, type It 614921
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Muscle glycogenosis, 300559
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Muscle glycogenosis 300559
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
Phenotypes
- Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
-
Expert Review
Phenotypes
- Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145: Arthrogryposis, distal, with proprioception and touch, 617146
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Literature
Phenotypes
- Congenital myasthenic syndrome
- Plectin deficiency
- myasthenic syndrome
- Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy with epidermolysis bullosa simplex, 226670
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy with epidermolysis bullosa simplex, 226670
- Muscular dystrophy, limb-girdle autosomal recessive 17, 613723
- Epidermolysis bullosa simplex with muscular dystrophy, 226670
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
-
Literature
Phenotypes
- Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
- Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
- Progressive external ophthalmoplegia, autosomal dominant 1 157640
- Progressive external ophthalmoplegia, autosomal recessive 1 258450
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
-
Literature
-
UKGTN
Phenotypes
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Limb-Girdle Muscular Dystrophy, Recessive
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Yorkshire and North East GLH
-
NHS GMS
-
South West GLH
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830
- limb girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type
- Walker-Warburg syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Limb-Girdle Muscular Dystrophy, Recessive
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Limb-Girdle Muscular Dystrophy, Recessive
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
UKGTN
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
Literature
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Cardiomyopathy, hypertrophic 6 600858
- Glycogen storage disease of heart, lethal congenital 261740
- Wolff-Parkinson-White syndrome 194200
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
Phenotypes
- Glycogen storage disease V McArdle disease 232600 AR
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Myopathy, myofibrillar, 8, 617258
- myopathy
- early-onset myopathy with internalized nuclei and myofibrillar disorganization
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
Phenotypes
- Congenital Myasthenic Syndrome, Recessive
- Congenital myasthenic syndrome
- Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326
- acute respiratory crises
- late and early onset
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Expert Review
-
UKGTN
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency 615895
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Literature
Phenotypes
- Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
- Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 613077
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
UKGTN
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
Phenotypes
- {Malignant hyperthermia susceptibility 1}, 145600
- Central core disease, 117000
- Minicore myopathy with external ophthalmoplegia, 255320
- Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
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)
|
|
3 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Neuromuscular disease, congenital, with uniform type 1 fiber, 117000
- Central core disease, 117000
- congenital myopathy
- malignant hyperthermia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Expert Review
Phenotypes
- childhood-onset nemaline myopathy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert Review
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Myasthenic syndrome, congenital, 16, 614198
- Congenital Myasthenic Syndrome, Recessive
- congenital myasthenic syndromes
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Muscular dystrophy, rigid spine, 1, 602771
- congenital myopathy
- muscular dystophy
- rigid spine syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
UKGTN
Phenotypes
- Muscular dystrophy, rigid spine, 1, 602771
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
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)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy, limb-girdle, type 2D, 608099
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Limb-Girdle Muscular Dystrophy, Recessive
- Muscular dystrophy, limb-girdle, type 2E, 604286
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Limb-Girdle Muscular Dystrophy, Recessive
- Muscular dystrophy, limb-girdle, type 2F, 601287
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Limb-Girdle Muscular Dystrophy, Recessive
- Muscular dystrophy, limb-girdle, type 2C, 253700
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
Literature
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Marinesco-Sjogren syndrome 248800
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
Phenotypes
- Marinesco-Sjogren syndrome, 248800
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Eligibility statement prior genetic testing
Phenotypes
- Congenital myasthenic syndrome
- ophthalmopleggia and apnea
- Myasthenic syndrome, congenital, 21, presynaptic, 617239
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
UKGTN
Phenotypes
- Carnitine deficiency, systemic primary 212140
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- ?Myasthenic syndrome, congenital, 23, presynaptic
- 618197
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- itochondrial myopathy
- Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 60928
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
UKGTN
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Brown-Vialetto-Van Laere syndrome 2, 614707
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
UKGTN
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Brown-Vialetto-Van Laere syndrome 1, 211530
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Expert Review Green
-
Eligibility statement prior genetic testing
Phenotypes
- Congenital myasthenic syndrome
- Hereditory motor neuropathy
- Myasthenic syndrome, congenital, 20, presynaptic, 617143
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Yorkshire and North East GLH
-
NHS GMS
-
Expert Review
Phenotypes
- Spinal muscular atrophy-4, 271150
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert
-
UKGTN
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Spinal muscular atrophy 1, 253300
- Spinal muscular atrophy 2, 253550
- Spinal muscular atrophy 3, 253400
- Spinal muscular atrophy 4, 271150
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Literature
Phenotypes
- Centronuclear myopathy 5 615959
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
UKGTN
Phenotypes
- Amyotrophic lateral sclerosis 5, juvenile 602099
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Dystal Myopathy with rimmed vacuoles, 617158
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Myopathy, congenital, Baily-Bloch, 255995
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Yorkshire and North East GLH
-
NHS GMS
-
Expert Review
Phenotypes
- Myopathy, tubular aggregate, 1, 160565
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
UKGTN
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Myopathy, tubular aggregate, 160565
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Emory Genetics Laboratory
-
Literature
Phenotypes
- Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
- complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8)
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 green
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Yorkshire and North East GLH
-
NHS GMS
-
South West GLH
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999
- congenital muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Myasthenic syndrome, congenital, 7, presynaptic, 616040
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Limb-Girdle Muscular Dystrophy, Recessive
- Muscular dystrophy, limb-girdle, type 2G, 601954
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Welander distal myopathy, 604454
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
-
Literature
-
Emory Genetics Laboratory
Phenotypes
- Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
-
Expert
-
UKGTN
Phenotypes
- Arthrogryposis multiplex congenita, distal, type 2B, 601680
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
-
Emory Genetics Laboratory
Phenotypes
- nemaline myopathy
- Nemaline Myopathy, Recessive
- Nemaline myopathy 5, Amish type, 605355
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
-
Expert
-
UKGTN
Phenotypes
- Arthyrogryposis, distal, type 2B, 601680
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Yorkshire and North East GLH
-
NHS GMS
-
Expert Review
Phenotypes
- Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
-
Emory Genetics Laboratory
Phenotypes
- CAP myopathy 2 609285
- Nemaline myopathy 4, autosomal dominant 609285
- Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
-
Emory Genetics Laboratory
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)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
-
Literature
Phenotypes
- congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract
- infantile-onset muscle weakness
- Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy, limb-girdle, type 2S, 615356
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Limb-Girdle Muscular Dystrophy, Recessive
- Muscular dystrophy, limb-girdle, type 2H, 254110
- Limb-girdle muscular dystrophy
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
- Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209
- Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
London South GLH
Phenotypes
- Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
- Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209
- Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806
- ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Distal Congenital Nonprogressive Spinal Muscular Atrophy
- Brachyolmia type 3, 113500
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
Phenotypes
- ?Pontocerebellar hypoplasia type 5 610204
- Pontocerebellar hypoplasia type 2A 277470
- Pontocerebellar hypoplasia type 4 225753
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Combined oxidative phosphorylation deficiency 3 610505
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
3 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Yorkshire and North East GLH
-
NHS GMS
-
South West GLH
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Muscular dystrophy, limb-girdle, type 2J, 608807
- Limb girdle muscular dystrophy
- Distal myopathy
- Myofibrillar myopathy
- Congenital myopathy
- dilated cardiomyopathy
- HMERF
- arthrogryposis
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Myopathy, early-onset, with fatal cardiomyopathy, 611705
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Tibial muscular dystrophy, tardive, 600334
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
-
Literature
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 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 Green
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Infantile Spinal Muscular Atrophy, X-Linked
- Spinal muscular atrophy, X-linked 2, infantile, 301830
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
-
Literature
Phenotypes
- Congenital myasthenic syndrome
- presynaptic CMS
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
Phenotypes
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Myopathy, X-linked, with excessive autophagy, 310440
- X-Linked myopathy with excessive autophagy
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Green
-
Expert Review
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Radboud University Medical Center, Nijmegen
-
UKGTN
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
Phenotypes
- Pontocerebellar hypoplasia type 1A 607596
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert Review
Phenotypes
- CMD with rigid spine
- Nemaline myopathy 3, autosomal dominant or recessive 161800
- Myopathy, congenital, with fiber-type disproportion 1 255310
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert Review
Phenotypes
- Myopathy, distal, 5, 617030
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
UKGTN
-
Literature
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- juvenile amyotrophic lateral sclerosis-2, 205100
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Not set
|
Sources
-
Expert Review Amber
-
Expert
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
Yorkshire and North East GLH
-
NHS GMS
-
Expert Review
Phenotypes
- Myopathy, vacuolar, with CASQ1 aggregates, 616231
Tags
|
Amber
Amber List (moderate evidence)
|
|
5 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Amber
-
UCL
Phenotypes
- Vacuolar myopathy with CASQ1 aggregates (VMCQA)
- Myopathy, vacuolar, with CASQ1 aggregates, 616231
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Amber
-
Radboud University Medical Center, Nijmegen
Phenotypes
- ?Myopathy, congenital, Compton-North, 612540
Tags
|
Amber
Amber List (moderate evidence)
|
|
5 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Amber
-
Expert Review
Phenotypes
- walker warburg syndrome, muscle eye brain disease
- Brain small vessel disease with or without ocular anomalies, 175780
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733
Tags
|
Amber
Amber List (moderate evidence)
|
|
6 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Amber
-
Emory Genetics Laboratory
Phenotypes
- congenital muscular dystrophies
- Congenital disorder of glycosylation, type Ie 608799
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
- limb-girdle muscular dystrophy
- dystroglycanopathy
Tags
|
Amber
Amber List (moderate evidence)
|
|
6 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Amber
-
Emory Genetics Laboratory
Phenotypes
- congenital muscular dystrophies
- Congenital disorder of glycosylation, type Io, 612937'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Illumina TruGenome Clinical Sequencing Services
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy, limb-girdle, type 2B, 253601
- Myopathy, distal, with anterior tibial onset, 606768
- Miyoshi muscular dystrophy 1, 254130
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
UKGTN
-
Literature
Phenotypes
- Pontocerebellar hypoplasia, type 1C 616081
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
Expert Review
-
Expert Review Amber
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Myopathy, distal, 4, OMIM:614065
- Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
- Myopathy, myofibrillar, 5, OMIM:609524
- Myopathy, myofibrillar, 5, MONDO:0012289
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 reviews
1 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
NHS GMS
-
London South GLH
Phenotypes
- Secondary dystroglycanopathy
Tags
|
Amber
Amber List (moderate evidence)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Amber
-
Expert Review
Phenotypes
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Research
-
Expert list
-
Other
Phenotypes
- oculopharyngodistal myopathy, muscular dystrophy, congenital myopathy
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
-
Expert list
Phenotypes
- oculopharyngodistal myopathy
- muscular dystrophy
- congenital myopathy
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert
Phenotypes
- Neuropathy, distal hereditary motor, type IIA 158590
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Myopathy, myofibrillar 7 OMIM:617114
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 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
-
NHS GMS
-
London South GLH
-
Expert Review Amber
-
Expert Review
Phenotypes
- vacuolar myopathy?
- Danon disease, 300257
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Facioscapulohumeral muscular dystrophy
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Facioscapulohumeral muscular dystrophy
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Amber
-
Expert Review
Phenotypes
- centronuclear myopathy
- Centronuclear myopathy, autosomal, modifier of, 160150
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Amber
-
Expert Review
Phenotypes
- myopathy and cardiomyopathy
- Cardiomyopathy, hypertrophic, 4, 115197
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
-
Expert list
Phenotypes
- OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert list
Phenotypes
- Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
NHS GMS
-
London South GLH
Phenotypes
- ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Amber
-
Expert Review
Phenotypes
- Sudden cardiac failure, infantile, 617222
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Radboud University Medical Center, Nijmegen
-
Literature
Phenotypes
- ?Neuronopathy, distal hereditary motor, type VB 614751
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
UKGTN
Phenotypes
- Amyotrophic lateral sclerosis 4, juvenile 602433
Tags
|
Amber
Amber List (moderate evidence)
|
|
6 reviews
2 green
1 red
|
Other - please specifiy in evaluation comments
|
Sources
-
Expert Review Amber
-
Yorkshire and North East GLH
-
NHS GMS
-
South West GLH
-
Emory Genetics Laboratory
-
UKGTN
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Fascioscapulohumeral muscular dystrophy 2, digenic 158901
- fascioscapulohumeral muscular dystrophy
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert Review
Phenotypes
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Emory Genetics Laboratory
Phenotypes
- Congenital muscular dystrophies
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
- Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
- Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Amber
-
Expert list
Phenotypes
- Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Progressive Myopathy with Eccentric Cores
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Spinal muscular atrophy, late-onset, Finkel type 182980
- Amyotrophic lateral sclerosis 8 608627
Tags
|
Red
Red List (low evidence)
|
|
4 reviews
2 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Myopathy, scapulohumeroperoneal, 616852
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Glycogen storage disease IIIb, 232400
- Glycogen storage disease IIIc, 232400
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
-
Emory Genetics Laboratory
Phenotypes
- Rhabdomyolysis
- Myopathy due to myoadenylate deaminase deficiency 615511
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
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)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
-
Emory Genetics Laboratory
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Brody Myopathy
- Brody myopathy, 601003
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Congenital muscular dystrophy with epilepsy
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
7 reviews
2 green
3 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Yorkshire and North East GLH
-
NHS GMS
-
South West GLH
-
Literature
Phenotypes
- Muscular dystrophy, limb-girdle, type 2X, 616812
- limb girdle muscular dystrophy
- cardiac arrhythmia
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- episodic ataxia plus myasthenic syndrome
- hemiplegic migraine plus disturbed NMJ function
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Myasthenic syndrome, congenital, 3A, slow-channel, 616321
- Congenital myasthenic syndrome
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Myotonia congenita, dominant, 160800
Tags
|
Red
Red List (low evidence)
|
STR
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Ullrich congenital muscular dystrophy 2, 616470
- Bethlem myopathy
Tags
|
Red
Red List (low evidence)
|
|
4 reviews
2 red
|
Not set
|
Sources
-
NHS GMS
-
London South GLH
-
Expert Review Red
-
Expert Review
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Myasthenic syndrome, congenital, 5, 603034
- Congenital myasthenic syndrome
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Rhabdomyolysis, cerivastatin-induced
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
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
-
Emory Genetics Laboratory
Phenotypes
- Myopathy, myofibrillar, 1, 601419
- Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Not set
|
Sources
-
Expert Review Red
-
Eligibility statement prior genetic testing
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Myotonic dystrophy 1 160900
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Eligibility statement prior genetic testing
Phenotypes
- MYOTONIC DYSTROPHY 1 (DM1)
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Not set
|
Sources
-
Expert Review Red
-
Emory Genetics Laboratory
Phenotypes
- spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14.
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
STR
|
2 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Myotonic dystrophy 1 160900
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Myofibrillar Myopathy, Dominant
- Muscular dystrophy, limb-girdle, type 1E 603511
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Centronuclear myopathy 1, 160150
- Centronuclear myopathy
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Not set
|
Sources
-
Expert Review Red
-
Eligibility statement prior genetic testing
Phenotypes
- FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A)
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
NHS GMS
-
South West GLH
-
Expert Review
Phenotypes
- Facioscapulohumeral muscular dystrophy, 158900
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Not set
|
Sources
Phenotypes
- Facioscapulohumeral Muscular Dystrophy 1A
Tags
- cnv
- currently-ngs-unreportable
- treatable
|
Red
Red List (low evidence)
|
|
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)
|
|
3 reviews
1 red
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Red
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Glutaric acidemia IIC, 231680
- Glutaric acidemia IIA, 231680
- Glutaric acidemia IIB, 231680
Tags
|
Red
Red List (low evidence)
|
|
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
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Neuronopathy, distal hereditary motor, type IID 615575
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
NHS GMS
-
Expert Review Red
-
Expert Review
Phenotypes
- Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717
- Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Expert
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Distal Spinal Muscular Atrophy
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Glycogen storage disease IV, 232500
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Myasthenia, congenital, 12, with tubular aggregates, 610542
- Congenital myasthenic syndrome
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Glycogen storage disease XV, 613507
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- ?Neuronopathy, distal hereditary motor, type IIC 613376
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Red
-
Literature
Phenotypes
- 3-methylglutaconic aciduria, type VIII 617248
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- distal myopathy (no OMIM number)
Tags
|
Red
Red List (low evidence)
|
|
4 reviews
2 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Early onset distal myopathy
- Nemaline myopathy
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- myopia, facial tics, and failure of neuromuscular transmission
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Literature
Phenotypes
- Congenital myasthenic syndrome
- congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
- synaptic congenital myasthenic syndrome
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Myofibrillar Myopathy, Dominant
- Myopathy, myofibrillar, 4, 609452
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Red
-
Other
-
Literature
Phenotypes
- Arthrogryposis Multiplex Congenita
- Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468
- AMCNMY
Tags
|
Red
Red List (low evidence)
|
|
6 reviews
1 green
3 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Yorkshire and North East GLH
-
NHS GMS
-
South West GLH
-
Literature
Phenotypes
- Muscular dystrophy, limb-girdle, type 2W, 616827
- limb girdle muscular dystrophy
- cardiomyopathy
- triangular tongue
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Amyotrophic lateral sclerosis 21 606070
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Amyotrophic lateral sclerosis 21, 606070
- ALS
- myofibrillar myopathy
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
Not set
|
Sources
Tags
- locus-type-rna-long-non-coding
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
MITOCHONDRIAL
|
Sources
Phenotypes
- MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
- MELAS 540000
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Centronuclear Myopathy, Dominant
- Myopathy, centronuclear, 3, 614408
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Muscular dystrophy, limb-girdle, type 1A 159000
- Myopathy, myofibrillar, 3 609200
- Myopathy, spheroid body 182920
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Nemaline myopathy 2, autosomal recessive, 256030
- congenital myopathy
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Expert Review
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Emory Genetics Laboratory
-
Radboud University Medical Center, Nijmegen
-
UKGTN
Phenotypes
- Oculopharyngeal muscular dystrophy, 164300
- Oculopharyngeal muscular dystrophy
Tags
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Phosphoglycerate kinase 1 deficiency, 300653
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Distal Spinal Muscular Atrophy
- Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Neutral Lipid Storage Disease with Myopathy
- Neutral lipid storage disease with myopathy, 610717
Tags
|
Red
Red List (low evidence)
|
|
4 reviews
1 green
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
Tags
|
Red
Red List (low evidence)
|
|
7 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Yorkshire and North East GLH
-
NHS GMS
-
South West GLH
-
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
- limb girdle muscular dystrophy
- congenital muscular dystrophy
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Literature
Phenotypes
- myasthenic syndrome
- congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency
- ?Myasthenic syndrome, congenital, 22, 616224
Tags
- deletions
- polygenic
- treatable
|
Red
Red List (low evidence)
|
|
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)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Fetal akinesia deformation sequence 1, 208150
- Congenital myasthenic syndrome
- Limb-girdle muscular dystrophy
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- RYR1-related congenital myopathy
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Emory Genetics Laboratory
Phenotypes
- congenital muscular dystrophies
- Central core disease
- Minicore myopathy with external ophthalmoplegia
- Neuromuscular disease, congenital, with uniform type 1 fiber
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Hyperkalemic periodic paralysis, type 2, 170500
- Hyperkalemic periodic paralysis
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
-
Literature
Phenotypes
- ?Amyotrophic lateral sclerosis 16, juvenile 614373
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert Review
Phenotypes
- Hypouricemia, renal 220150
Tags
|
Red
Red List (low evidence)
|
|
4 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)
|
|
2 reviews
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert Review
Phenotypes
- Hypouricemia, renal, 2 612076
- {Uric acid concentration, serum, QTL 2} 612076
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
UKGTN
-
Literature
Phenotypes
- Neuronopathy, distal hereditary motor, type VIIA 158580
Tags
|
Red
Red List (low evidence)
|
|
2 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)
|
|
3 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
-
Other
-
Literature
Phenotypes
- ?Myasthenic syndrome, congenital, 18, 616330
Tags
|
Red
Red List (low evidence)
|
|
4 reviews
1 red
|
Other - please specifiy in evaluation comments
|
Sources
-
Expert Review Red
-
Emory Genetics Laboratory
Phenotypes
- Prader-Willi syndrome 176270
Tags
- currently-ngs-unreportable
|
Red
Red List (low evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- ?Myopathy, congenital, with neuropathy and deafness, 617519
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Emery-Dreifuss Muscular Dystrophy
- Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Not set
|
Sources
-
Expert Review Red
-
NHS GMS
-
Wessex and West Midlands GLH
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
Phenotypes
- Emery-Dreifuss muscular dystrophy 7, AD 614302
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Arthrogryposis, distal, type 2B, 601680
- Arthrogryposis
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- Arthrogryposis multiplex congenita, distal, type 1, 108120
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
-
Expert Review
Phenotypes
- CAP myopathy 1, 609284
- Nemaline myopathy 1, autosomal dominant or recessive, 609284
- Nemaline myopathy
- congenital myopathy
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Wessex and West Midlands GLH
Tags
|
Red
Red List (low evidence)
|
|
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
|
Red
Red List (low evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
London South GLH
-
Expert Review
Phenotypes
- vacuolar myopathy
- Arthrogryposis renal dysfunction, and cholestasis 1, 208085
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Radboud University Medical Center, Nijmegen
-
Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis
- Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 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 Red
-
NHS GMS
-
London South GLH
Phenotypes
- Wieacker-Wolff syndrome, 314580
Tags
|
No list
No list
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Lipodystrophy, congenital generalized, type 4 (MIM#613327)
Tags
|
No list
No list
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900
Tags
|
No list
No list
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Muscular dystrophy
- Deafness
- Ovarian insufficiency
Tags
|
No list
No list
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940
Tags
|
No list
No list
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352
- Limb myalgia
- exercise intolerance
- myoglobinuria
Tags
|
No list
No list
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy
Tags
|
No list
No list
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975
Tags
|
No list
No list
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1 review
1 green
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Neutral lipid storage disease with myopathy 610717
Tags
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No list
No list
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1 review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Myopathy, myofibrillar, 8, 617258
- adult-onset limb girdle muscular dystrophy
Tags
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No list
No list
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1 review
1 green
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- SCN4A-related muscle disorders
Tags
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No list
No list
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1 review
1 green
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
Tags
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