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Other rare neuromuscular disorders v19.2 Eleanor Williams Panel version 19.1 has been signed off on 2023-03-22
Other rare neuromuscular disorders v12.270 Arina Puzriakova List of related panels changed from Neuromuscular disorders; Other rare neuromuscular disorders; R381 to Neuromuscular disorders; R381
Other rare neuromuscular disorders v12.269 Eleanor Williams Panel name changed from Neuromuscular disorders to Other rare neuromuscular disorders
List of related panels changed from Other rare neuromuscular disorders; R381 to Neuromuscular disorders; Other rare neuromuscular disorders; R381
Other rare neuromuscular disorders v12.2 Arina Puzriakova Panel version 12.1 has been signed off on 2022-11-30
Other rare neuromuscular disorders v5.44 Catherine Snow Panel version has been signed off
Other rare neuromuscular disorders v5.9 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off
Other rare neuromuscular disorders v1.13 Ellen McDonagh Changed child panels to: Congenital myopathy; Limb girdle muscular dystrophy; Congenital myaesthenic syndrome; Congenital muscular dystrophy; Rhabdomyolysis and metabolic muscle disorders; Paediatric motor neuronopathies; Distal myopathies
Panel types changed to GMS Rare Disease Virtual; Super Panel
Other rare neuromuscular disorders v1.12 Ellen McDonagh List of related panels changed from Other rare neuromuscular disorders; R381 to Other rare neuromuscular disorders; R381
Other rare neuromuscular disorders v1.11 Louise Daugherty List of related panels changed from Other rare neuromuscular disorders;R381 to Other rare neuromuscular disorders; R381
Other rare neuromuscular disorders v1.10 Louise Daugherty List of related panels changed from Other rare neuromuscular disorders to Other rare neuromuscular disorders;R381
Other rare neuromuscular disorders v1.9 PAX7 Louise Daugherty Phenotypes for gene: PAX7 were changed from Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones; Myopathy, congenital, progressive, with scoliosis, 618578 to Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones; Myopathy, congenital, progressive, with scoliosis, 618578
Other rare neuromuscular disorders v1.8 PAX7 Louise Daugherty Phenotypes for gene: PAX7 were changed from Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones to Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones; Myopathy, congenital, progressive, with scoliosis, 618578
Other rare neuromuscular disorders v1.7 PAX7 Louise Daugherty Classified gene: PAX7 as Green List (high evidence)
Other rare neuromuscular disorders v1.7 PAX7 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Other rare neuromuscular disorders v1.7 PAX7 Louise Daugherty Gene: pax7 has been classified as Green List (High Evidence).
Other rare neuromuscular disorders v1.6 PAX7 Cristina Dias gene: PAX7 was added
gene: PAX7 was added to Neuromuscular disorders. Sources: Literature
Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX7 were set to 31092906
Phenotypes for gene: PAX7 were set to Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones
Penetrance for gene: PAX7 were set to Complete
Review for gene: PAX7 was set to GREEN
Added comment: Feichtinger et. al. report four independent consanguineous families with four different (homozygous) mutations in PAX7.
Sources: Literature
Other rare neuromuscular disorders v1.6 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Other rare neuromuscular disorders v1.6 GARS Louise Daugherty commented on gene: GARS
Other rare neuromuscular disorders v1.6 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Other rare neuromuscular disorders v1.6 AARS Louise Daugherty commented on gene: AARS
Other rare neuromuscular disorders v1.6 POLG2 Sarah Leigh Publications for gene: POLG2 were set to 25929793
Other rare neuromuscular disorders v1.5 POLG2 Sarah Leigh Added comment: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome and in an autosomal recessive epilepsy family without ophthalmoplegia (PMID 27592148; 30157269; 31286721).
Other rare neuromuscular disorders v1.5 POLG2 Sarah Leigh Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Other rare neuromuscular disorders v1.1 ISPD Louise Daugherty commented on gene: ISPD
Other rare neuromuscular disorders v1.1 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Other rare neuromuscular disorders v1.1 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome to Marinesco-Sjogren syndrome, 248800
Other rare neuromuscular disorders v1.0 Louise Daugherty promoted panel to version 1.0
Other rare neuromuscular disorders v0.78 BICD2 Louise Daugherty Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
Other rare neuromuscular disorders v0.77 CACNA1S Louise Daugherty Phenotypes for gene: CACNA1S were changed from congenital myopathy; {Malignant hyperthermia susceptibility 5}, 601887 to Congenital myopathy; Malignant hyperthermia susceptibility 5, 601887
Other rare neuromuscular disorders v0.76 DMD Louise Daugherty Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200; Duchenne muscular dystrophy 310200; Becker muscular dystrophy; Becker muscular dystrophy, 300376 to Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376
Other rare neuromuscular disorders v0.75 DOLK Louise Daugherty Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im to Congenital disorder of glycosylation, type Im, 610768
Other rare neuromuscular disorders v0.74 EPG5 Louise Daugherty Phenotypes for gene: EPG5 were changed from vacuolar myopathy? to Vacuolar myopathy; Vici syndrome, 242840
Other rare neuromuscular disorders v0.73 ETFA Louise Daugherty Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA 231680
Other rare neuromuscular disorders v0.72 FLNC Louise Daugherty Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524; Myopathy, myofibrillar, 5; Distal myopathy 4, 614065; myofibrillar myopathy 5, 609524 to Myopathy, myofibrillar, 5, 609524; Myopathy, myofibrillar, 5; Distal myopathy 4, 614065
Other rare neuromuscular disorders v0.71 FKBP14 Louise Daugherty Added comment: Comment on phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Other rare neuromuscular disorders v0.71 FKBP14 Louise Daugherty Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Other rare neuromuscular disorders v0.70 GYG1 Louise Daugherty Phenotypes for gene: GYG1 were changed from ?Glycogen storage disease XV to Glycogen storage disease XV,613507; Polyglucosan body myopathy 2, 616199
Other rare neuromuscular disorders v0.69 GYS1 Louise Daugherty Phenotypes for gene: GYS1 were changed from Glycogen storage disease 0, muscle to Glycogen storage disease 0, muscle, 611556
Other rare neuromuscular disorders v0.68 HADHB Louise Daugherty Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, 609015
Other rare neuromuscular disorders v0.67 LDHA Louise Daugherty Phenotypes for gene: LDHA were changed from to Glycogen storage disease XI, 612933
Other rare neuromuscular disorders v0.66 LPIN1 Louise Daugherty Phenotypes for gene: LPIN1 were changed from to Myoglobinuria, acute recurrent, autosomal recessive, 268200
Other rare neuromuscular disorders v0.65 PHKA1 Louise Daugherty Phenotypes for gene: PHKA1 were changed from Muscle glycogenosis to Muscle glycogenosis, 300559
Other rare neuromuscular disorders v0.64 PYGM Louise Daugherty Phenotypes for gene: PYGM were changed from Glycogen storage disease V McArdle disease to Glycogen storage disease V; McArdle disease, 232600
Other rare neuromuscular disorders v0.63 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 to Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Other rare neuromuscular disorders v0.62 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from mitochondrial myopathy to Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Other rare neuromuscular disorders v0.61 SLC25A4 Louise Daugherty Publications for gene: SLC25A4 were set to 27693233; PMID:25732997
Other rare neuromuscular disorders v0.60 SMN1 Louise Daugherty Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy 1, 253300 to Spinal muscular atrophy 1, 253300; Spinal muscular atrophy 2, 253550; Spinal muscular atrophy 3, 253400; Spinal muscular atrophy 4, 271150
Other rare neuromuscular disorders v0.59 SMN1 Louise Daugherty Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 to Spinal muscular atrophy 1, 253300
Other rare neuromuscular disorders v0.58 SPEG Louise Daugherty Publications for gene: SPEG were set to PMID 25087613
Other rare neuromuscular disorders v0.57 STAC3 Louise Daugherty Phenotypes for gene: STAC3 were changed from Native American myopathy, 255995 (3) to Myopathy, congenital, Baily-Bloch, 255995
Other rare neuromuscular disorders v0.56 SUCLA2 Louise Daugherty Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Other rare neuromuscular disorders v0.55 SYNE1 Louise Daugherty Phenotypes for gene: SYNE1 were changed from Emery-Dreifuss muscular dystrophy 4, autosomal dominant to Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998; Spinocerebellar ataxia, autosomal recessive 8, 610743
Other rare neuromuscular disorders v0.54 TK2 Louise Daugherty Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Other rare neuromuscular disorders v0.53 TMEM5 Louise Daugherty Phenotypes for gene: TMEM5 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 10, 615041
Other rare neuromuscular disorders v0.52 TNNT1 Louise Daugherty Phenotypes for gene: TNNT1 were changed from Nemaline myopathy 5, Amish type, 605355; Nemaline Myopathy, Recessive; nemaline myopathy to Nemaline myopathy 5, Amish type, 605355; Nemaline Myopathy, Recessive
Other rare neuromuscular disorders v0.51 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from ?Pontocerebellar hypoplasia type 5 to Pontocerebellar hypoplasia type 5, 610204
Other rare neuromuscular disorders v0.50 ISPD Louise Daugherty Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643; Walker-Warburg syndrome (WWS); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; 616052 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Congenital Muscular Dystrophy, alpha-dystroglycan related; Walker-Warburg syndrome (WWS)
Other rare neuromuscular disorders v0.49 AR Louise Daugherty Phenotypes for gene: AR were changed from 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 to Androgen insensitivity, 300068; Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633
Other rare neuromuscular disorders v0.48 CRYAB Louise Daugherty Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar 2, 608810; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869; Myopathy, myofibrillar, 2 608810 to Myopathy, myofibrillar 2, 608810; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869
Other rare neuromuscular disorders v0.47 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, 605820
Other rare neuromuscular disorders v0.46 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy 605820; Nonaka myopathy, 605820; Nonaka myopathy to Nonaka myopathy 605820
Other rare neuromuscular disorders v0.45 GNE Louise Daugherty Added comment: Comment on mode of inheritance: changed moi to reflect MOI for Nonaka myopathy only, since Sialuria, 269921 (AD) is not relevant to this panel
Other rare neuromuscular disorders v0.45 GNE Louise Daugherty Mode of inheritance for gene: GNE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Other rare neuromuscular disorders v0.44 HSPB8 Louise Daugherty Phenotypes for gene: HSPB8 were changed from Neuropathy, distal hereditary motor type IIA, 158590; distal myopathy; Neuropathy, distal hereditary motor, type IIA 158590 to Neuropathy, distal hereditary motor type IIA, 158590; Distal myopathy
Other rare neuromuscular disorders v0.43 VMA21 Louise Daugherty Phenotypes for gene: VMA21 were changed from vacuolar myopathy; Myopathy, X-linked, with excessive autophagy, 310440 to Vacuolar myopathy; Myopathy, X-linked, with excessive autophagy, 310440
Other rare neuromuscular disorders v0.42 KLHL41 Louise Daugherty Phenotypes for gene: KLHL41 were changed from Nemaline myopathy 9, 615731 (3) to Nemaline myopathy 9, 615731
Other rare neuromuscular disorders v0.41 ISCU Louise Daugherty Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary; Myopathy with lactic acidosis, hereditary, 255125 to Myopathy with lactic acidosis, hereditary, 255125
Other rare neuromuscular disorders v0.40 LAMP2 Louise Daugherty Phenotypes for gene: LAMP2 were changed from vacuolar myopathy?; Danon disease to Vacuolar myopathy; Danon disease, 300257
Other rare neuromuscular disorders v0.39 LARGE1 Louise Daugherty Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Congenital Muscular Dystrophy, alpha-dystroglycan related to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154; Congenital Muscular Dystrophy, alpha-dystroglycan related
Other rare neuromuscular disorders v0.38 LDB3 Louise Daugherty Phenotypes for gene: LDB3 were changed from Myopathy, myofibrillar, 4, 609452; Myopathy, myofibrillar 4, 609452; Myofibrillar Myopathy, Dominant to Myopathy, myofibrillar 4, 609452; Myofibrillar Myopathy, Dominant
Other rare neuromuscular disorders v0.37 MEGF10 Louise Daugherty Phenotypes for gene: MEGF10 were changed from Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia
Other rare neuromuscular disorders v0.36 MICU1 Louise Daugherty Phenotypes for gene: MICU1 were changed from myopathy with extrapyramidal signs; Myopathy with extrapyramidal signs, 615673 (3) to Myopathy with extrapyramidal signs, 615673
Other rare neuromuscular disorders v0.35 MYH7 Louise Daugherty Phenotypes for gene: MYH7 were changed from Laing distal myopathy, 160500; Laing Distal Myopathy 160500 to Laing distal myopathy, 160500
Other rare neuromuscular disorders v0.34 MYOT Louise Daugherty Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3 609200; Myopathy, myofibrillar 3, 609200; Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type 1A, 159000; Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, spheroid body 182920 to Myopathy, myofibrillar, 3 609200; Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type 1A, 159000; Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, spheroid body 182920
Other rare neuromuscular disorders v0.33 NEB Louise Daugherty Phenotypes for gene: NEB were changed from Nemaline myopathy 2, 256030; Nemaline myopathy 2, autosomal recessive, 256030; Nemaline Myopathy, Recessive; nemaline myopathy to Nemaline myopathy 2, 256030; Nemaline myopathy 2, autosomal recessive, 256030; Nemaline Myopathy, Recessive
Other rare neuromuscular disorders v0.32 PRKAG2 Louise Daugherty Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, 600858; Glycogen storage disease of heart, lethal congenital, 261740; Wolff-Parkinson-White syndrome, 194200
Other rare neuromuscular disorders v0.31 VMA21 Louise Daugherty Phenotypes for gene: VMA21 were changed from vacuolar myopathy? to vacuolar myopathy; Myopathy, X-linked, with excessive autophagy, 310440
Other rare neuromuscular disorders v0.30 ANO5 Louise Daugherty Phenotypes for gene: ANO5 were changed from Limb-Girdle Muscular Dystrophy, Recessive; Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Miyoshi muscular dystrophy 3; Limb-girdle muscular dystrophy; Gnathodiaphyseal dysplasia, 166260; Miyoshi muscular dystrophy 3, 613319; Gnathodiaphyseal dysplasia, 166260Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319 to Limb-Girdle Muscular Dystrophy, Recessive; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319; Miyoshi muscular dystrophy 3; Limb-girdle muscular dystrophy; Gnathodiaphyseal dysplasia, 166260; Miyoshi muscular dystrophy 3, 613319; Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319
Other rare neuromuscular disorders v0.29 CHCHD10 Louise Daugherty Phenotypes for gene: CHCHD10 were changed from Spinal muscular atrophy, Jokela type 615048; Spinal muscular atrophy, Jokela type 615048; ?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911 to Spinal muscular atrophy, Jokela type 615048; ?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911
Other rare neuromuscular disorders v0.28 AR_CAG Louise Daugherty Classified STR: AR_CAG as Green List (high evidence)
Other rare neuromuscular disorders v0.28 AR_CAG Louise Daugherty Str: ar_cag has been classified as Green List (High Evidence).
Other rare neuromuscular disorders v0.27 AR_CAG Louise Daugherty STR: AR_CAG was added
STR: AR_CAG was added to Neuromuscular disorders. Sources: Expert list
STR tags were added to STR: AR_CAG.
Mode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for STR: AR_CAG were set to Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Review for STR: AR_CAG was set to GREEN
Added comment: Source PanelApp panels : Congenital myopathy v1.67, Distal myopathies v1.10
Sources: Expert list
Other rare neuromuscular disorders v0.26 ISCA-37478-Loss Ellen McDonagh Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 7611294; 22045295
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; Angelman syndrome; Prader-Willi syndrome; 105830; Mental retardation
Other rare neuromuscular disorders v0.26 ISCA-37429-Loss Ellen McDonagh Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 14630905; 20026556
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Other rare neuromuscular disorders v0.26 ISCA-37420-Loss Ellen McDonagh Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 18628315; 25217958
Phenotypes for Region: ISCA-37420-Loss were set to PMID: 25217958; 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; Koolen-De Vries syndrome 610443
Other rare neuromuscular disorders v0.26 ISCA-37408-Loss Ellen McDonagh Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37408-Loss were set to 18245392; 22579565; 16963482
Phenotypes for Region: ISCA-37408-Loss were set to 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; 612513; 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)
Other rare neuromuscular disorders v0.26 ISCA-37404-Loss Ellen McDonagh Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 7611294; 22045295
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; 105833; Angelman syndrome; Prader-Willi syndrome; Mental retardation
Other rare neuromuscular disorders v0.25 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
Other rare neuromuscular disorders v0.24 DMPK_CTG Louise Daugherty Deleted their comment
Other rare neuromuscular disorders v0.24 DMPK_CTG Louise Daugherty Classified STR: DMPK_CTG as Green List (high evidence)
Other rare neuromuscular disorders v0.24 DMPK_CTG Louise Daugherty Added comment: Comment on list classification: STR added from merged panels.
Other rare neuromuscular disorders v0.24 DMPK_CTG Louise Daugherty Str: dmpk_ctg has been classified as Green List (High Evidence).
Other rare neuromuscular disorders v0.23 DMPK_CTG Louise Daugherty Classified STR: DMPK_CTG as Green List (high evidence)
Other rare neuromuscular disorders v0.23 DMPK_CTG Louise Daugherty Str: dmpk_ctg has been classified as Green List (High Evidence).
Other rare neuromuscular disorders v0.22 DMPK_CTG Louise Daugherty STR: DMPK_CTG was added
STR: DMPK_CTG was added to Neuromuscular disorders. Sources: Expert list
STR tags were added to STR: DMPK_CTG.
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1 160900
Review for STR: DMPK_CTG was set to GREEN
Added comment: Source PanelApp panels : Congenital muscular dystrophy v1.21, Congenital myopathy v1.67
Sources: Expert list
Other rare neuromuscular disorders v0.21 Louise Daugherty List of related panels changed from Other rare neuromuscular disorders; GMS R381 to Other rare neuromuscular disorders
Other rare neuromuscular disorders v0.18 RBCK1 Ellen McDonagh Publications for gene: RBCK1 were set to 23104095; 23889995; 23798481; 25041762
Other rare neuromuscular disorders v0.18 RBCK1 Ellen McDonagh Publications for gene: RBCK1 were set to 23798481
Other rare neuromuscular disorders v0.17 RBCK1 Ellen McDonagh Classified gene: RBCK1 as Green List (high evidence)
Other rare neuromuscular disorders v0.17 RBCK1 Ellen McDonagh Added comment: Comment on list classification: This gene is Green on the Rhabdomyolysis and metabolic muscle disorders v1.22 panel.
Other rare neuromuscular disorders v0.17 RBCK1 Ellen McDonagh Gene: rbck1 has been classified as Green List (High Evidence).
Other rare neuromuscular disorders v0.16 ISPD Ellen McDonagh Classified gene: ISPD as Green List (high evidence)
Other rare neuromuscular disorders v0.16 ISPD Ellen McDonagh Added comment: Comment on list classification: This gene is Green on the Congenital muscular dystrophy v1.19 panel.
Other rare neuromuscular disorders v0.16 ISPD Ellen McDonagh Gene: ispd has been classified as Green List (High Evidence).
Other rare neuromuscular disorders v0.15 DYSF Ellen McDonagh Publications for gene: DYSF were set to 25821721
Other rare neuromuscular disorders v0.14 DYSF Ellen McDonagh Classified gene: DYSF as Green List (high evidence)
Other rare neuromuscular disorders v0.14 DYSF Ellen McDonagh Added comment: Comment on list classification: This is Green on the Rhabdomyolysis and metabolic muscle disorders v1.22, Distal myopathies v1.10, Limb girdle muscular dystrophy v1.12 panels.
Other rare neuromuscular disorders v0.14 DYSF Ellen McDonagh Gene: dysf has been classified as Green List (High Evidence).
Other rare neuromuscular disorders v0.13 DES Ellen McDonagh Publications for gene: DES were set to 23687351
Other rare neuromuscular disorders v0.12 DAG1 Ellen McDonagh Publications for gene: DAG1 were set to 21388311; 25503980
Other rare neuromuscular disorders v0.11 CRYAB Ellen McDonagh Publications for gene: CRYAB were set to 21337604
Other rare neuromuscular disorders v0.10 CPT2 Ellen McDonagh Publications for gene: CPT2 were set to 16602102
Other rare neuromuscular disorders v0.9 CHCHD10 Ellen McDonagh Publications for gene: CHCHD10 were set to 25428574
Other rare neuromuscular disorders v0.8 CACNA1S Ellen McDonagh Publications for gene: CACNA1S were set to 28012042
Other rare neuromuscular disorders v0.7 ANO5 Ellen McDonagh Publications for gene: ANO5 were set to 25929793
Other rare neuromuscular disorders v0.6 ACTA1 Ellen McDonagh Publications for gene: ACTA1 were set to 26436962; 25913210; 24642510; 25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele); 20179953
Other rare neuromuscular disorders v0.5 ACTA1 Ellen McDonagh Mode of inheritance for gene: ACTA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Other rare neuromuscular disorders v0.3 VPS33B Ellen McDonagh gene: VPS33B was added
gene: VPS33B was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: VPS33B was set to Unknown
Phenotypes for gene: VPS33B were set to vacuolar myopathy?
Other rare neuromuscular disorders v0.3 STIM2 Ellen McDonagh gene: STIM2 was added
gene: STIM2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: STIM2 was set to Unknown
Other rare neuromuscular disorders v0.3 PHKG1 Ellen McDonagh gene: PHKG1 was added
gene: PHKG1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PHKG1 was set to Unknown
Other rare neuromuscular disorders v0.3 MEG3 Ellen McDonagh gene: MEG3 was added
gene: MEG3 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: MEG3 was set to Unknown
Other rare neuromuscular disorders v0.3 FBP2 Ellen McDonagh gene: FBP2 was added
gene: FBP2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: FBP2 was set to Unknown
Other rare neuromuscular disorders v0.3 DMPK Ellen McDonagh Mode of pathogenicity for gene DMPK was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14. for gene: DMPK
Other rare neuromuscular disorders v0.3 DCTN1 Ellen McDonagh gene: DCTN1 was added
gene: DCTN1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: DCTN1 was set to Unknown
Other rare neuromuscular disorders v0.3 CPT1B Ellen McDonagh gene: CPT1B was added
gene: CPT1B was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: CPT1B was set to Unknown
Other rare neuromuscular disorders v0.3 COL4A2 Ellen McDonagh gene: COL4A2 was added
gene: COL4A2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: COL4A2 was set to Unknown
Publications for gene: COL4A2 were set to 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy
Other rare neuromuscular disorders v0.3 BSCL2 Ellen McDonagh gene: BSCL2 was added
gene: BSCL2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: BSCL2 was set to Unknown
Publications for gene: BSCL2 were set to 14981520
Other rare neuromuscular disorders v0.3 ATP7A Ellen McDonagh gene: ATP7A was added
gene: ATP7A was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes disease, 309400; Occipital horn syndrome, 304150; Spinal muscular atrophy, distal, X-linked 3, 300489
Other rare neuromuscular disorders v0.3 AARS Ellen McDonagh gene: AARS was added
gene: AARS was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: AARS was set to Unknown
Other rare neuromuscular disorders v0.3 UBA1 Ellen McDonagh gene: UBA1 was added
gene: UBA1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: UBA1 were set to PMID: 23518311
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile, 301830; Infantile Spinal Muscular Atrophy, X-Linked
Other rare neuromuscular disorders v0.3 LAMP2 Ellen McDonagh Added phenotypes vacuolar myopathy? for gene: LAMP2
Publications for gene LAMP2 were changed from to 12084876; 21415759
Other rare neuromuscular disorders v0.3 LAMP2 Ellen McDonagh gene: LAMP2 was added
gene: LAMP2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: LAMP2 were set to Danon disease
Other rare neuromuscular disorders v0.3 FHL1 Ellen McDonagh Added phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 for gene: FHL1
Publications for gene FHL1 were changed from to 7709723; 22094483
Other rare neuromuscular disorders v0.3 FHL1 Ellen McDonagh gene: FHL1 was added
gene: FHL1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy
Other rare neuromuscular disorders v0.3 EMD Ellen McDonagh Added phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 for gene: EMD
Other rare neuromuscular disorders v0.3 EMD Ellen McDonagh gene: EMD was added
gene: EMD was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked
Other rare neuromuscular disorders v0.3 DMD Ellen McDonagh Added phenotypes Duchenne muscular dystrophy 310200; Becker muscular dystrophy for gene: DMD
Other rare neuromuscular disorders v0.3 DMD Ellen McDonagh Added phenotypes Becker muscular dystrophy for gene: DMD
Other rare neuromuscular disorders v0.3 DMD Ellen McDonagh gene: DMD was added
gene: DMD was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376
Other rare neuromuscular disorders v0.3 VMA21 Ellen McDonagh gene: VMA21 was added
gene: VMA21 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: VMA21 were set to 23315026
Phenotypes for gene: VMA21 were set to vacuolar myopathy?
Other rare neuromuscular disorders v0.3 PHKA1 Ellen McDonagh gene: PHKA1 was added
gene: PHKA1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHKA1 were set to 27604308; 25929793; 15637709; 12825073
Phenotypes for gene: PHKA1 were set to Muscle glycogenosis
Other rare neuromuscular disorders v0.3 PGK1 Ellen McDonagh gene: PGK1 was added
gene: PGK1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PGK1 were set to 22348148; 1547346
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency
Other rare neuromuscular disorders v0.3 MTM1 Ellen McDonagh gene: MTM1 was added
gene: MTM1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MTM1 were set to 8640223
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400; X-linked myotubular myopathy
Other rare neuromuscular disorders v0.3 AR Ellen McDonagh gene: AR was added
gene: AR was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to 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
Mode of pathogenicity for gene: AR was set to Other - please provide details in the comments
Other rare neuromuscular disorders v0.3 OBSCN Ellen McDonagh gene: OBSCN was added
gene: OBSCN was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: OBSCN was set to Unknown
Publications for gene: OBSCN were set to 18477606
Other rare neuromuscular disorders v0.3 CYP2C8 Ellen McDonagh gene: CYP2C8 was added
gene: CYP2C8 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: CYP2C8 was set to Unknown
Publications for gene: CYP2C8 were set to 15365880; 20739906
Phenotypes for gene: CYP2C8 were set to Rhabdomyolysis, cerivastatin-induced
Other rare neuromuscular disorders v0.3 SNRPN Ellen McDonagh gene: SNRPN was added
gene: SNRPN was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SNRPN was set to Other - please specifiy in evaluation comments
Publications for gene: SNRPN were set to 10802660; 8723064
Phenotypes for gene: SNRPN were set to Prader-Willi syndrome
Other rare neuromuscular disorders v0.3 SMCHD1 Ellen McDonagh Added phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
Other rare neuromuscular disorders v0.3 SMCHD1 Ellen McDonagh gene: SMCHD1 was added
gene: SMCHD1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SMCHD1 was set to Other - please specifiy in evaluation comments
Phenotypes for gene: SMCHD1 were set to Fascioscapulohumeral muscular dystrophy 2, digenic
Other rare neuromuscular disorders v0.3 VCP Ellen McDonagh Added phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 for gene: VCP
Other rare neuromuscular disorders v0.3 VCP Ellen McDonagh Mode of inheritance for gene VCP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 for gene: VCP
Publications for gene VCP were changed from to 21684747
Other rare neuromuscular disorders v0.3 UBQLN1 Ellen McDonagh gene: UBQLN1 was added
gene: UBQLN1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: UBQLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBQLN1 were set to PMID: 22766032
Phenotypes for gene: UBQLN1 were set to Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease
Other rare neuromuscular disorders v0.3 SYT2 Ellen McDonagh Added phenotypes Myasthenic syndrome, congenital, 7, presynaptic, 616040 for gene: SYT2
Publications for gene SYT2 were changed from to 27472506 (Review); 25192047; 26519543
Other rare neuromuscular disorders v0.3 SYT2 Ellen McDonagh gene: SYT2 was added
gene: SYT2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Other rare neuromuscular disorders v0.3 SYNE2 Ellen McDonagh Added phenotypes Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 for gene: SYNE2
Other rare neuromuscular disorders v0.3 SYNE2 Ellen McDonagh gene: SYNE2 was added
gene: SYNE2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SYNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYNE2 were set to 17761684
Phenotypes for gene: SYNE2 were set to Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Other rare neuromuscular disorders v0.3 SQSTM1 Ellen McDonagh gene: SQSTM1 was added
gene: SQSTM1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SQSTM1 were set to 26208961
Phenotypes for gene: SQSTM1 were set to Dystal Myopathy with rimmed vacuoles, 617158
Other rare neuromuscular disorders v0.3 SNAP25 Ellen McDonagh gene: SNAP25 was added
gene: SNAP25 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNAP25 were set to 25381298; 27472506 (Review)
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330
Other rare neuromuscular disorders v0.3 SETX Ellen McDonagh gene: SETX was added
gene: SETX was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: SETX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETX were set to 15106121
Phenotypes for gene: SETX were set to Amyotrophic lateral sclerosis 4, juvenile 602433
Other rare neuromuscular disorders v0.3 REEP1 Ellen McDonagh gene: REEP1 was added
gene: REEP1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REEP1 were set to 18321925; 22703882
Phenotypes for gene: REEP1 were set to ?Neuronopathy, distal hereditary motor, type VB 614751
Other rare neuromuscular disorders v0.3 PRKAG2 Ellen McDonagh gene: PRKAG2 was added
gene: PRKAG2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAG2 were set to 27604308
Other rare neuromuscular disorders v0.3 POLG2 Ellen McDonagh gene: POLG2 was added
gene: POLG2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLG2 were set to 25929793
Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Other rare neuromuscular disorders v0.3 MYOT Ellen McDonagh Added phenotypes Myopathy, spheroid body 182920; Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, myofibrillar, 3 609200 for gene: MYOT
Other rare neuromuscular disorders v0.3 MYOT Ellen McDonagh Added phenotypes Myopathy, myofibrillar 3, 609200 for gene: MYOT
Publications for gene MYOT were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 15111675
Other rare neuromuscular disorders v0.3 MYOT Ellen McDonagh gene: MYOT was added
gene: MYOT was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYOT were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: MYOT were set to Limb-Girdle Muscular Dystrophy, Dominant; Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 1A, 159000
Other rare neuromuscular disorders v0.3 MYH7 Ellen McDonagh Mode of inheritance for gene MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Laing distal myopathy, 160500 for gene: MYH7
Publications for gene MYH7 were changed from 15322983 to 20301606
Other rare neuromuscular disorders v0.3 MATR3 Ellen McDonagh Mode of inheritance for gene MATR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Distal Myopathy for gene: MATR3
Other rare neuromuscular disorders v0.3 LDB3 Ellen McDonagh Added phenotypes Myopathy, myofibrillar, 4, 609452; Myofibrillar Myopathy, Dominant for gene: LDB3
Other rare neuromuscular disorders v0.3 LDB3 Ellen McDonagh gene: LDB3 was added
gene: LDB3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LDB3 were set to 15668942
Phenotypes for gene: LDB3 were set to Myopathy, myofibrillar 4, 609452
Other rare neuromuscular disorders v0.3 KLHL9 Ellen McDonagh gene: KLHL9 was added
gene: KLHL9 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: KLHL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL9 were set to 20554658
Phenotypes for gene: KLHL9 were set to distal myopathy (no OMIM number)
Other rare neuromuscular disorders v0.3 HSPB8 Ellen McDonagh Added phenotypes Neuropathy, distal hereditary motor, type IIA 158590 for gene: HSPB8
Publications for gene HSPB8 were changed from 26718575 to 15122253
Other rare neuromuscular disorders v0.3 HSPB8 Ellen McDonagh gene: HSPB8 was added
gene: HSPB8 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPB8 were set to 26718575
Phenotypes for gene: HSPB8 were set to Neuropathy, distal hereditary motor type IIA, 158590; distal myopathy
Other rare neuromuscular disorders v0.3 HSPB3 Ellen McDonagh gene: HSPB3 was added
gene: HSPB3 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPB3 were set to 20142617
Phenotypes for gene: HSPB3 were set to ?Neuronopathy, distal hereditary motor, type IIC 613376
Other rare neuromuscular disorders v0.3 HSPB1 Ellen McDonagh Publications for gene HSPB1 were changed from 27830184 to 15122254
Other rare neuromuscular disorders v0.3 HSPB1 Ellen McDonagh gene: HSPB1 was added
gene: HSPB1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: HSPB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPB1 were set to 27830184
Phenotypes for gene: HSPB1 were set to Neuropathy, distal hereditary motor type IIB, 608634
Other rare neuromuscular disorders v0.3 FLNC Ellen McDonagh Added phenotypes Myopathy, myofibrillar, 5, 609524 for gene: FLNC
Other rare neuromuscular disorders v0.3 FLNC Ellen McDonagh Added phenotypes Distal myopathy 4, 614065; myofibrillar myopathy 5, 609524 for gene: FLNC
Publications for gene FLNC were changed from 17412757; 15929027; 19050726; 22806379 to 15824355; 15929027; 21620354
Other rare neuromuscular disorders v0.3 FLNC Ellen McDonagh gene: FLNC was added
gene: FLNC was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLNC were set to 17412757; 15929027; 19050726; 22806379
Phenotypes for gene: FLNC were set to Myopathy, myofibrillar, 5
Other rare neuromuscular disorders v0.3 FBXO38 Ellen McDonagh gene: FBXO38 was added
gene: FBXO38 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO38 were set to 24207122
Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID 615575
Other rare neuromuscular disorders v0.3 DYNC1H1 Ellen McDonagh gene: DYNC1H1 was added
gene: DYNC1H1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1H1 were set to 22459677
Phenotypes for gene: DYNC1H1 were set to Spinal muscular atrophy, lower extremity-predominant, AD, 158600
Other rare neuromuscular disorders v0.3 DUX4 Ellen McDonagh Added phenotypes Facioscapulohumeral Muscular Dystrophy 1A for gene: DUX4
Publications for gene DUX4 were changed from to 27922500; 27841748; 27672539; 28040729; 27816329
Other rare neuromuscular disorders v0.3 DUX4 Ellen McDonagh Added phenotypes Facioscapulohumeral muscular dystrophy, 158900 for gene: DUX4
Other rare neuromuscular disorders v0.3 DUX4 Ellen McDonagh gene: DUX4 was added
gene: DUX4 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: DUX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DUX4 were set to FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A)
Mode of pathogenicity for gene: DUX4 was set to Other - please provide details in the comments
Other rare neuromuscular disorders v0.3 DNM2 Ellen McDonagh Mode of inheritance for gene DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myopathy, centronuclear, for gene: DNM2
Other rare neuromuscular disorders v0.3 DNAJB6 Ellen McDonagh Mode of inheritance for gene DNAJB6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes limb-girdle muscular dystrophy type 1E, 603511 for gene: DNAJB6
Other rare neuromuscular disorders v0.3 DMPK Ellen McDonagh Mode of inheritance for gene DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene DMPK was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other - please provide details in the comments
Added phenotypes MYOTONIC DYSTROPHY 1 (DM1) for gene: DMPK
Other rare neuromuscular disorders v0.3 COL4A1 Ellen McDonagh gene: COL4A1 was added
gene: COL4A1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A1 were set to 22037604; 28056338; 21625620
Phenotypes for gene: COL4A1 were set to walker warburg syndrome, muscle eye brain disease
Other rare neuromuscular disorders v0.3 CNBP Ellen McDonagh gene: CNBP was added
gene: CNBP was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CNBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CNBP were set to Myotonic dystrophy 2, 602668
Mode of pathogenicity for gene: CNBP was set to Other - please provide details in the comments
Other rare neuromuscular disorders v0.3 CHCHD10 Ellen McDonagh Mode of inheritance for gene CHCHD10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Spinal muscular atrophy, Jokela type 615048 for gene: CHCHD10
Publications for gene CHCHD10 were changed from 25193783 to 25428574
Other rare neuromuscular disorders v0.3 BICD2 Ellen McDonagh gene: BICD2 was added
gene: BICD2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
Other rare neuromuscular disorders v0.3 BAG3 Ellen McDonagh Mode of inheritance for gene BAG3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes myofibrillar myopathy 6, 612954 for gene: BAG3
Publications for gene BAG3 were changed from 19085932 to 19085932; 21361913
Other rare neuromuscular disorders v0.3 VCP Ellen McDonagh gene: VCP was added
gene: VCP was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VCP were set to 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
Other rare neuromuscular disorders v0.3 VAPB Ellen McDonagh gene: VAPB was added
gene: VAPB was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAPB were set to 15372378
Phenotypes for gene: VAPB were set to Amyotrophic lateral sclerosis 8 608627; Spinal muscular atrophy, late-onset, Finkel type 182980
Other rare neuromuscular disorders v0.3 TRPV4 Ellen McDonagh gene: TRPV4 was added
gene: TRPV4 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPV4 were set to 20037588, 20037586, 20037587
Phenotypes for gene: TRPV4 were set to Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, 113500
Other rare neuromuscular disorders v0.3 TPM2 Ellen McDonagh gene: TPM2 was added
gene: TPM2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TPM2 were set to Nemaline myopathy 4, autosomal dominant 609285; CAP myopathy 2 609285
Other rare neuromuscular disorders v0.3 TNNT3 Ellen McDonagh gene: TNNT3 was added
gene: TNNT3 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNNT3 were set to Arthyrogryposis, distal, type 2B 601680
Other rare neuromuscular disorders v0.3 TNNI2 Ellen McDonagh gene: TNNI2 was added
gene: TNNI2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNNI2 were set to 16924011
Phenotypes for gene: TNNI2 were set to Arthrogryposis multiplex congenita, distal, type 2B 601680
Other rare neuromuscular disorders v0.3 TMEM43 Ellen McDonagh gene: TMEM43 was added
gene: TMEM43 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMEM43 were set to Emery-Dreifuss muscular dystrophy 7, AD 614302
Other rare neuromuscular disorders v0.3 STIM1 Ellen McDonagh gene: STIM1 was added
gene: STIM1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STIM1 were set to 23332920
Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, 160565
Other rare neuromuscular disorders v0.3 SLC25A4 Ellen McDonagh gene: SLC25A4 was added
gene: SLC25A4 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC25A4 were set to 27693233; PMID:25732997
Phenotypes for gene: SLC25A4 were set to mitochondrial myopathy
Other rare neuromuscular disorders v0.3 ORAI1 Ellen McDonagh gene: ORAI1 was added
gene: ORAI1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ORAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ORAI1 were set to 28058752; 25227914
Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2 615883
Other rare neuromuscular disorders v0.3 MYH8 Ellen McDonagh gene: MYH8 was added
gene: MYH8 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH8 were set to 17041932
Phenotypes for gene: MYH8 were set to Trismus-pseudocamptodactyly syndrome 158300
Other rare neuromuscular disorders v0.3 MYH7 Ellen McDonagh gene: MYH7 was added
gene: MYH7 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH7 were set to 15322983
Phenotypes for gene: MYH7 were set to Laing Distal Myopathy 160500
Other rare neuromuscular disorders v0.3 MYH3 Ellen McDonagh gene: MYH3 was added
gene: MYH3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH3 were set to 26578207; 18695058
Phenotypes for gene: MYH3 were set to Arthrogryposis, distal, type 2A 193700; Arthrogryposis, distal, type 8 178110; Arthrogryposis, distal, type 2B 601680
Other rare neuromuscular disorders v0.3 MYH2 Ellen McDonagh gene: MYH2 was added
gene: MYH2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia 605637
Other rare neuromuscular disorders v0.3 MYH14 Ellen McDonagh gene: MYH14 was added
gene: MYH14 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH14 were set to 27875632; 21480433
Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Deafness, autosomal dominant 4A 600652
Other rare neuromuscular disorders v0.3 MYF6 Ellen McDonagh gene: MYF6 was added
gene: MYF6 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: MYF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYF6 were set to 11053684
Phenotypes for gene: MYF6 were set to Myopathy, centronuclear, 3, 614408; Centronuclear Myopathy, Dominant
Other rare neuromuscular disorders v0.3 MTMR14 Ellen McDonagh gene: MTMR14 was added
gene: MTMR14 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MTMR14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MTMR14 were set to 19465920
Phenotypes for gene: MTMR14 were set to centronuclear myopathy
Other rare neuromuscular disorders v0.3 MATR3 Ellen McDonagh gene: MATR3 was added
gene: MATR3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MATR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MATR3 were set to 24686783
Phenotypes for gene: MATR3 were set to Amyotrophic lateral sclerosis 21 606070
Other rare neuromuscular disorders v0.3 KBTBD13 Ellen McDonagh gene: KBTBD13 was added
gene: KBTBD13 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KBTBD13 were set to 21109227
Phenotypes for gene: KBTBD13 were set to Nemaline Myopathy, Dominant; Nemaline myopathy 6, autosomal dominant, 609273
Other rare neuromuscular disorders v0.3 HRAS Ellen McDonagh gene: HRAS was added
gene: HRAS was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HRAS were set to 17412879
Phenotypes for gene: HRAS were set to Costello syndrome 218040; Congenital myopathy with excess of muscle spindles 218040
Other rare neuromuscular disorders v0.3 HNRNPDL Ellen McDonagh gene: HNRNPDL was added
gene: HNRNPDL was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: HNRNPDL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPDL were set to 24647604
Phenotypes for gene: HNRNPDL were set to Muscular dystrophy, limb-girdle, type 1G 609115
Other rare neuromuscular disorders v0.3 HNRNPA1 Ellen McDonagh gene: HNRNPA1 was added
gene: HNRNPA1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNRNPA1 were set to ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
Other rare neuromuscular disorders v0.3 GARS Ellen McDonagh gene: GARS was added
gene: GARS was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GARS were set to Distal Spinal Muscular Atrophy
Other rare neuromuscular disorders v0.3 FAM111B Ellen McDonagh gene: FAM111B was added
gene: FAM111B was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FAM111B were set to 24268661
Phenotypes for gene: FAM111B were set to Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3)
Other rare neuromuscular disorders v0.3 DNM2 Ellen McDonagh gene: DNM2 was added
gene: DNM2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 22396310
Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal, type 2M, 606482; Myopathy, centronuclear, 160150
Other rare neuromuscular disorders v0.3 DNAJB6 Ellen McDonagh Added phenotypes Myofibrillar Myopathy, Dominant for gene: DNAJB6
Other rare neuromuscular disorders v0.3 DNAJB6 Ellen McDonagh gene: DNAJB6 was added
gene: DNAJB6 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNAJB6 were set to PubMed: 22366786
Phenotypes for gene: DNAJB6 were set to Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type 1E, 603511
Other rare neuromuscular disorders v0.3 DMPK Ellen McDonagh gene: DMPK was added
gene: DMPK was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DMPK were set to Myotonic dystrophy 1 160900
Mode of pathogenicity for gene: DMPK was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Other rare neuromuscular disorders v0.3 COL9A3 Ellen McDonagh gene: COL9A3 was added
gene: COL9A3 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL9A3 were set to 10655510; 10678658
Phenotypes for gene: COL9A3 were set to Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969
Other rare neuromuscular disorders v0.3 CHCHD10 Ellen McDonagh gene: CHCHD10 was added
gene: CHCHD10 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHCHD10 were set to 25193783
Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type 615048; ?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911
Other rare neuromuscular disorders v0.3 CCDC78 Ellen McDonagh gene: CCDC78 was added
gene: CCDC78 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCDC78 were set to 22818856
Phenotypes for gene: CCDC78 were set to Myopathy, centronuclear, 4, 614807
Other rare neuromuscular disorders v0.3 BAG3 Ellen McDonagh gene: BAG3 was added
gene: BAG3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BAG3 were set to 19085932
Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6, 612954
Other rare neuromuscular disorders v0.3 NEFL Ellen McDonagh gene: NEFL was added
gene: NEFL was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal
Publications for gene: NEFL were set to 25264603
Phenotypes for gene: NEFL were set to Nemaline Myopathy
Other rare neuromuscular disorders v0.3 CASQ1 Ellen McDonagh gene: CASQ1 was added
gene: CASQ1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal
Publications for gene: CASQ1 were set to 25116801
Phenotypes for gene: CASQ1 were set to Vacuolar myopathy with CASQ1 aggregates (VMCQA)
Other rare neuromuscular disorders v0.3 MT-TL1 Ellen McDonagh gene: MT-TL1 was added
gene: MT-TL1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL1 were set to MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS 540000
Other rare neuromuscular disorders v0.3 TTN Ellen McDonagh Added phenotypes Muscular dystrophy, limb-girdle, type 2J for gene: TTN
Publications for gene TTN were changed from 12145747 to 12145747; 26392295
Other rare neuromuscular disorders v0.3 TTN Ellen McDonagh Added phenotypes Tibial muscular dystrophy, tardive, 600334 for gene: TTN
Publications for gene TTN were changed from 23975875; 28295036; 17444505 to 12145747
Other rare neuromuscular disorders v0.3 TTN Ellen McDonagh gene: TTN was added
gene: TTN was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TTN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TTN were set to 23975875; 28295036; 17444505
Phenotypes for gene: TTN were set to Myopathy, early-onset, with fatal cardiomyopathy 611705
Other rare neuromuscular disorders v0.3 TPM3 Ellen McDonagh gene: TPM3 was added
gene: TPM3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TPM3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TPM3 were set to 24692096
Phenotypes for gene: TPM3 were set to Myopathy, congenital, with fiber-type disproportion 255310; CAP myopathy 1 609284; Nemaline myopathy 1, autosomal dominant or recessive 609284
Other rare neuromuscular disorders v0.3 SYNE1 Ellen McDonagh Added phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant for gene: SYNE1
Other rare neuromuscular disorders v0.3 SYNE1 Ellen McDonagh gene: SYNE1 was added
gene: SYNE1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SYNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SYNE1 were set to 27782104; 19542096
Phenotypes for gene: SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Other rare neuromuscular disorders v0.3 SLC5A7 Ellen McDonagh Added phenotypes Neuronopathy, distal hereditary motor, type VIIA 158580 for gene: SLC5A7
Publications for gene SLC5A7 were changed from PMID: 23141292; PMID: 27569547; PMID: 26786006 to 23141292
Other rare neuromuscular disorders v0.3 SLC5A7 Ellen McDonagh gene: SLC5A7 was added
gene: SLC5A7 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC5A7 were set to PMID: 23141292; PMID: 27569547; PMID: 26786006
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143; Hereditory motor neuropathy; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 SLC2A9 Ellen McDonagh gene: SLC2A9 was added
gene: SLC2A9 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SLC2A9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A9 were set to Hypouricemia, renal, 2
Other rare neuromuscular disorders v0.3 RYR1 Ellen McDonagh Added phenotypes Malignant hyperthermia susceptibility 1 145600; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Central core disease 117000 for gene: RYR1
Publications for gene RYR1 were changed from to 26799446
Other rare neuromuscular disorders v0.3 RYR1 Ellen McDonagh Added phenotypes Minicore myopathy with external ophthalmoplegia; Neuromuscular disease, congenital, with uniform type 1 fiber; congenital muscular dystrophies; Central core disease for gene: RYR1
Other rare neuromuscular disorders v0.3 RYR1 Ellen McDonagh gene: RYR1 was added
gene: RYR1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to Central core disease, 117000; {Malignant hyperthermia susceptibility 1}, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600
Other rare neuromuscular disorders v0.3 RRM2B Ellen McDonagh gene: RRM2B was added
gene: RRM2B was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RRM2B were set to 25929793
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Other rare neuromuscular disorders v0.3 POLG Ellen McDonagh gene: POLG was added
gene: POLG was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLG were set to 157640; Progressive external ophthalmoplegia, autosomal recessive 1 258450
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type)
Other rare neuromuscular disorders v0.3 PIEZO2 Ellen McDonagh gene: PIEZO2 was added
gene: PIEZO2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO2 were set to Arthrogryposis
Other rare neuromuscular disorders v0.3 PABPN1 Ellen McDonagh gene: PABPN1 was added
gene: PABPN1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PABPN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy; Oculopharyngeal muscular dystrophy, 164300
Other rare neuromuscular disorders v0.3 MYBPC1 Ellen McDonagh gene: MYBPC1 was added
gene: MYBPC1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYBPC1 were set to 20045868
Phenotypes for gene: MYBPC1 were set to Lethal congenital contracture syndrome 4 614915; Arthrogryposis, distal, type 1B 614335
Other rare neuromuscular disorders v0.3 LMNA Ellen McDonagh Added phenotypes Congenital fiber type disproportion myopathy for gene: LMNA
Publications for gene LMNA were changed from 18551513; 15622532; 15148145 to 24642510
Other rare neuromuscular disorders v0.3 LMNA Ellen McDonagh Added phenotypes Emery-Dreifuss muscular dystrophy 2, AD, 181350; Congenital Muscular Dystrophy, LMNA-related (Dominant) for gene: LMNA
Publications for gene LMNA were changed from to 18551513; 15622532; 15148145
Other rare neuromuscular disorders v0.3 LMNA Ellen McDonagh gene: LMNA was added
gene: LMNA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, AD, 181350; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 GNE Ellen McDonagh Added phenotypes Nonaka myopathy for gene: GNE
Other rare neuromuscular disorders v0.3 GNE Ellen McDonagh Mode of inheritance for gene GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Nonaka myopathy, 605820 for gene: GNE
Publications for gene GNE were changed from to 16372135
Other rare neuromuscular disorders v0.3 DES Ellen McDonagh Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 for gene: DES
Other rare neuromuscular disorders v0.3 DES Ellen McDonagh Added phenotypes Muscular dystrophy, limb-girdle, type 2R for gene: DES
Publications for gene DES were changed from 20718792 to 23687351
Other rare neuromuscular disorders v0.3 DES Ellen McDonagh gene: DES was added
gene: DES was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DES were set to 20718792
Phenotypes for gene: DES were set to Myopathy, myofibrillar 1, 601419
Other rare neuromuscular disorders v0.3 CRYAB Ellen McDonagh Added phenotypes Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869; Myopathy, myofibrillar, 2 608810 for gene: CRYAB
Publications for gene CRYAB were changed from to 21337604
Other rare neuromuscular disorders v0.3 CRYAB Ellen McDonagh gene: CRYAB was added
gene: CRYAB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAB were set to Myopathy, myofibrillar 2, 608810
Other rare neuromuscular disorders v0.3 COL6A3 Ellen McDonagh Added phenotypes Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810 for gene: COL6A3
Other rare neuromuscular disorders v0.3 COL6A3 Ellen McDonagh Added phenotypes Bethlem myopathy 1 for gene: COL6A3
Other rare neuromuscular disorders v0.3 COL6A3 Ellen McDonagh gene: COL6A3 was added
gene: COL6A3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: COL6A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL6A3 were set to 15689448
Phenotypes for gene: COL6A3 were set to Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090
Other rare neuromuscular disorders v0.3 COL6A2 Ellen McDonagh Added phenotypes Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810 for gene: COL6A2
Publications for gene COL6A2 were changed from to 15689448
Other rare neuromuscular disorders v0.3 COL6A2 Ellen McDonagh Added phenotypes Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810 for gene: COL6A2
Other rare neuromuscular disorders v0.3 COL6A2 Ellen McDonagh gene: COL6A2 was added
gene: COL6A2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Bethlem myopathy 1
Other rare neuromuscular disorders v0.3 COL6A1 Ellen McDonagh Added phenotypes Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810 for gene: COL6A1
Publications for gene COL6A1 were changed from to 23738969; 15955946; 25535305
Other rare neuromuscular disorders v0.3 COL6A1 Ellen McDonagh Added phenotypes Bethlem myopathy 1 for gene: COL6A1
Other rare neuromuscular disorders v0.3 COL6A1 Ellen McDonagh gene: COL6A1 was added
gene: COL6A1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: COL6A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810
Other rare neuromuscular disorders v0.3 COL12A1 Ellen McDonagh Added phenotypes Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2 for gene: COL12A1
Publications for gene COL12A1 were changed from 24334604 to 24334769 - two families reported with autosomal dominant variant segregating with Bethlem myopathy.; 27348394 - heterozygous variant identified in affected proband with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation. The variant was not present in mother but unable to confirm that it was de novo and absent in the father; 24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported. COL12A1 inactivated gene in mouse model showed decreased grip strength, delay in fiber-type transition and deficiency in passive force generation
Other rare neuromuscular disorders v0.3 COL12A1 Ellen McDonagh gene: COL12A1 was added
gene: COL12A1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL12A1 were set to 24334604
Phenotypes for gene: COL12A1 were set to EDS/myopathy overlap syndrome
Other rare neuromuscular disorders v0.3 CHRNE Ellen McDonagh gene: CHRNE was added
gene: CHRNE was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CHRNE were set to 12417530; 14719537; 24295813; 21175599; 25792100
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; fast channel myasthenic syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Acetylcholine receptor deficiency syndrome; Reduced channel conductance syndrome; Slow channel myasthenic syndrome; Congenital Myasthenic Syndrome, Dominant/Recessive
Other rare neuromuscular disorders v0.3 CHRND Ellen McDonagh gene: CHRND was added
gene: CHRND was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHRND was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CHRND were set to 11435464; 11782989; 16916845
Phenotypes for gene: CHRND were set to ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322; fast channel myasthenic syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Acetylcholine receptor deficiency syndrome; Slow channel myasthenic syndrome; Congenital Myasthenic Syndrome, Dominant/Recessive
Mode of pathogenicity for gene: CHRND was set to Other - please provide details in the comments
Other rare neuromuscular disorders v0.3 CHRNB1 Ellen McDonagh gene: CHRNB1 was added
gene: CHRNB1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CHRNB1 were set to 8651643; 8872460; 22104196; In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.
Phenotypes for gene: CHRNB1 were set to ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; fast channel myasthenic syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Acetylcholine receptor deficiency syndrome; Slow channel myasthenic syndrome; Congenital Myasthenic Syndrome, Dominant/Recessive
Mode of pathogenicity for gene: CHRNB1 was set to Other - please provide details in the comments
Other rare neuromuscular disorders v0.3 CHRNA1 Ellen McDonagh gene: CHRNA1 was added
gene: CHRNA1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CHRNA1 were set to 7619526; PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.; 15034283
Phenotypes for gene: CHRNA1 were set to Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Slow channel myasthenic syndrome; Congenital Myasthenic Syndrome, Dominant/Recessive
Mode of pathogenicity for gene: CHRNA1 was set to Other - please provide details in the comments
Other rare neuromuscular disorders v0.3 CAV3 Ellen McDonagh Added phenotypes Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801 for gene: CAV3
Other rare neuromuscular disorders v0.3 CAV3 Ellen McDonagh Added phenotypes Muscular dystrophy, limb-girdle, type IC for gene: CAV3
Other rare neuromuscular disorders v0.3 CAV3 Ellen McDonagh gene: CAV3 was added
gene: CAV3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CAV3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CAV3 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: CAV3 were set to Myopathy, distal, Tateyama type, 614321; Limb-Girdle Muscular Dystrophy, Dominant; Cardiomyopathy, familial hypertrophic, 192600; Muscular dystrophy, limb-girdle, type IC, 607801; Rippling muscle disease, 606072; Limb-girdle muscular dystrophy; Creatine phosphokinase, elevated serum, 123320
Other rare neuromuscular disorders v0.3 CACNA1S Ellen McDonagh Added phenotypes congenital myopathy for gene: CACNA1S
Publications for gene CACNA1S were changed from 19825159; 28011884; 25735680 to 28012042
Other rare neuromuscular disorders v0.3 CACNA1S Ellen McDonagh gene: CACNA1S was added
gene: CACNA1S was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1S was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CACNA1S were set to 19825159; 28011884; 25735680
Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, 601887
Other rare neuromuscular disorders v0.3 ACTA1 Ellen McDonagh Added phenotypes Myopathy, congenital, with fiber-type disproportion 1 255310; CMD with rigid spine; Nemaline myopathy 3, autosomal dominant or recessive 161800 for gene: ACTA1
Publications for gene ACTA1 were changed from 22825594; 19562689 to 26436962; 25913210; 24642510; 25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele); 20179953
Other rare neuromuscular disorders v0.3 ACTA1 Ellen McDonagh Mode of inheritance for gene ACTA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Nemaline myopathy 3; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Myopathy, actin, congenital, with cores for gene: ACTA1
Publications for gene ACTA1 were changed from to 22825594; 19562689
Other rare neuromuscular disorders v0.3 TIA1 Ellen McDonagh Added phenotypes Welander distal myopathy, 604454 for gene: TIA1
Other rare neuromuscular disorders v0.3 TIA1 Ellen McDonagh gene: TIA1 was added
gene: TIA1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TIA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TIA1 were set to 23401021
Phenotypes for gene: TIA1 were set to Welander distal myopathy, 604454
Other rare neuromuscular disorders v0.3 ACTA1 Ellen McDonagh gene: ACTA1 was added
gene: ACTA1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ACTA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: ACTA1 were set to Nemaline myopathy 3, 161800
Other rare neuromuscular disorders v0.3 YARS2 Ellen McDonagh gene: YARS2 was added
gene: YARS2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS2 were set to 24344687
Phenotypes for gene: YARS2 were set to Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Other rare neuromuscular disorders v0.3 VRK1 Ellen McDonagh gene: VRK1 was added
gene: VRK1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VRK1 were set to 19646678, 27281532
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A 607596
Other rare neuromuscular disorders v0.3 VAMP1 Ellen McDonagh gene: VAMP1 was added
gene: VAMP1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAMP1 were set to 28253535
Phenotypes for gene: VAMP1 were set to presynaptic CMS; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 TYMP Ellen McDonagh gene: TYMP was added
gene: TYMP was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYMP were set to 25929793
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Other rare neuromuscular disorders v0.3 TSFM Ellen McDonagh gene: TSFM was added
gene: TSFM was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 610505
Other rare neuromuscular disorders v0.3 TSEN54 Ellen McDonagh gene: TSEN54 was added
gene: TSEN54 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN54 were set to 18711368; 25929793
Phenotypes for gene: TSEN54 were set to ?Pontocerebellar hypoplasia type 5
Other rare neuromuscular disorders v0.3 TRIP4 Ellen McDonagh gene: TRIP4 was added
gene: TRIP4 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP4 were set to 26924529
Phenotypes for gene: TRIP4 were set to Spinal muscular atrophy with congenital bone fractures 1 616866
Other rare neuromuscular disorders v0.3 TRIM32 Ellen McDonagh gene: TRIM32 was added
gene: TRIM32 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM32 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 TRAPPC11 Ellen McDonagh Added phenotypes congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness for gene: TRAPPC11
Publications for gene TRAPPC11 were changed from 23830518; 27707803 to 26322222
Other rare neuromuscular disorders v0.3 TRAPPC11 Ellen McDonagh gene: TRAPPC11 was added
gene: TRAPPC11 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC11 were set to 23830518; 27707803
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356
Other rare neuromuscular disorders v0.3 TNNT1 Ellen McDonagh gene: TNNT1 was added
gene: TNNT1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNNT1 were set to 25430424; 26296490
Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type, 605355; Nemaline Myopathy, Recessive; nemaline myopathy
Other rare neuromuscular disorders v0.3 TMEM5 Ellen McDonagh gene: TMEM5 was added
gene: TMEM5 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Other rare neuromuscular disorders v0.3 TK2 Ellen McDonagh gene: TK2 was added
gene: TK2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TK2 were set to 25929793
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Other rare neuromuscular disorders v0.3 TCAP Ellen McDonagh Added phenotypes Congenital muscular dystrophies for gene: TCAP
Publications for gene TCAP were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 21530252; 23479141
Other rare neuromuscular disorders v0.3 TCAP Ellen McDonagh gene: TCAP was added
gene: TCAP was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCAP were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 SUCLA2 Ellen McDonagh gene: SUCLA2 was added
gene: SUCLA2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLA2 were set to 25929793
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Other rare neuromuscular disorders v0.3 STAC3 Ellen McDonagh gene: STAC3 was added
gene: STAC3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to 23736855; 28003463
Phenotypes for gene: STAC3 were set to Native American myopathy, 255995 (3)
Other rare neuromuscular disorders v0.3 SPTBN4 Ellen McDonagh gene: SPTBN4 was added
gene: SPTBN4 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN4 were set to 28540413
Phenotypes for gene: SPTBN4 were set to ?Myopathy, congenital, with neuropathy and deafness, 617519
Other rare neuromuscular disorders v0.3 SPG11 Ellen McDonagh gene: SPG11 was added
gene: SPG11 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 20110243
Phenotypes for gene: SPG11 were set to Amyotrophic lateral sclerosis 5, juvenile 602099
Other rare neuromuscular disorders v0.3 SPEG Ellen McDonagh gene: SPEG was added
gene: SPEG was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to PMID 25087613
Phenotypes for gene: SPEG were set to Centronuclear myopathy 5 615959
Other rare neuromuscular disorders v0.3 SMN1 Ellen McDonagh gene: SMN1 was added
gene: SMN1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMN1 were set to 7813012
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, 253300
Mode of pathogenicity for gene: SMN1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Other rare neuromuscular disorders v0.3 SLC52A3 Ellen McDonagh gene: SLC52A3 was added
gene: SLC52A3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A3 were set to 20206331; 20920669
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530
Mode of pathogenicity for gene: SLC52A3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Other rare neuromuscular disorders v0.3 SLC52A2 Ellen McDonagh gene: SLC52A2 was added
gene: SLC52A2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to 22864630; 23243084
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707
Mode of pathogenicity for gene: SLC52A2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Other rare neuromuscular disorders v0.3 SLC52A1 Ellen McDonagh gene: SLC52A1 was added
gene: SLC52A1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SLC52A1 was set to BIALLELIC, autosomal or pseudoautosomal
Other rare neuromuscular disorders v0.3 SLC25A42 Ellen McDonagh gene: SLC25A42 was added
gene: SLC25A42 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A42 were set to 26541337
Phenotypes for gene: SLC25A42 were set to muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction
Other rare neuromuscular disorders v0.3 SLC22A5 Ellen McDonagh gene: SLC22A5 was added
gene: SLC22A5 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 25929793
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary
Other rare neuromuscular disorders v0.3 SLC22A12 Ellen McDonagh gene: SLC22A12 was added
gene: SLC22A12 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A12 were set to Hypouricemia, renal
Other rare neuromuscular disorders v0.3 SLC18A3 Ellen McDonagh gene: SLC18A3 was added
gene: SLC18A3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A3 were set to PMID: 27590285
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, 617239; ophthalmopleggia and apnea; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 SIL1 Ellen McDonagh gene: SIL1 was added
gene: SIL1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIL1 were set to 25929793
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome
Other rare neuromuscular disorders v0.3 SIGMAR1 Ellen McDonagh gene: SIGMAR1 was added
gene: SIGMAR1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIGMAR1 were set to 21842496
Phenotypes for gene: SIGMAR1 were set to ?Amyotrophic lateral sclerosis 16, juvenile 614373
Other rare neuromuscular disorders v0.3 SGCG Ellen McDonagh gene: SGCG was added
gene: SGCG was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCG were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 SGCD Ellen McDonagh gene: SGCD was added
gene: SGCD was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCD were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 SGCB Ellen McDonagh gene: SGCB was added
gene: SGCB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCB were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: SGCB were set to Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive; Muscular dystrophy, limb-girdle, type 2E, 604286
Other rare neuromuscular disorders v0.3 SGCA Ellen McDonagh gene: SGCA was added
gene: SGCA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCA were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D, 608099; Limb-girdle muscular dystrophy
Other rare neuromuscular disorders v0.3 SELENON Ellen McDonagh Added phenotypes Muscular dystrophy, rigid spine, 1, 602771 for gene: SELENON
Other rare neuromuscular disorders v0.3 SELENON Ellen McDonagh gene: SELENON was added
gene: SELENON was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENON were set to 26780752; 16365872
Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine, 1 602771; Myopathy, congenital, with fiber-type disproportion 255310
Other rare neuromuscular disorders v0.3 SCN4A Ellen McDonagh Added phenotypes Congenital Myasthenic Syndrome, Recessive; congenital myasthenic syndromes; Myasthenic syndrome, congenital, 16, 614198 for gene: SCN4A
Other rare neuromuscular disorders v0.3 SCN4A Ellen McDonagh gene: SCN4A was added
gene: SCN4A was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN4A were set to 26700687
Phenotypes for gene: SCN4A were set to congenital myopathy
Other rare neuromuscular disorders v0.3 RBCK1 Ellen McDonagh Source Expert Review Red was added to RBCK1.
Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency, 615895 for gene: RBCK1
Publications for gene RBCK1 were changed from to 23798481
Rating Changed from Green List (high evidence) to Red List (low evidence)
Other rare neuromuscular disorders v0.3 RBCK1 Ellen McDonagh gene: RBCK1 was added
gene: RBCK1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency
Other rare neuromuscular disorders v0.3 RAPSN Ellen McDonagh gene: RAPSN was added
gene: RAPSN was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAPSN were set to 15145336; 16945936; 11791205; 14504330
Phenotypes for gene: RAPSN were set to acute respiratory crises; Congenital Myasthenic Syndrome, Recessive; late and early onset; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 PYGM Ellen McDonagh gene: PYGM was added
gene: PYGM was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYGM were set to 25929793; 16786513; 8316268
Phenotypes for gene: PYGM were set to Glycogen storage disease V McArdle disease
Other rare neuromuscular disorders v0.3 PUS1 Ellen McDonagh gene: PUS1 was added
gene: PUS1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS1 were set to 26556812; 21686963; 25227147
Phenotypes for gene: PUS1 were set to Mitochondrial myopathy and sideroblastic anemia 1, 600462; Myopathy, Lactic Acidosis, and Sideroblastic Anemia
Other rare neuromuscular disorders v0.3 PREPL Ellen McDonagh gene: PREPL was added
gene: PREPL was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREPL were set to 27472506 (Review); 24610330
Phenotypes for gene: PREPL were set to congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency; ?Myasthenic syndrome, congenital, 22, 616224; myasthenic syndrome
Other rare neuromuscular disorders v0.3 POMT2 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 for gene: POMT2
Other rare neuromuscular disorders v0.3 POMT2 Ellen McDonagh gene: POMT2 was added
gene: POMT2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 POMT1 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type for gene: POMT1
Other rare neuromuscular disorders v0.3 POMT1 Ellen McDonagh gene: POMT1 was added
gene: POMT1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 POMK Ellen McDonagh Added phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 for gene: POMK
Publications for gene POMK were changed from to 24556084; 24925318
Other rare neuromuscular disorders v0.3 POMK Ellen McDonagh gene: POMK was added
gene: POMK was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
Other rare neuromuscular disorders v0.3 POMGNT2 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 for gene: POMGNT2
Publications for gene POMGNT2 were changed from to 27066570
Other rare neuromuscular disorders v0.3 POMGNT2 Ellen McDonagh gene: POMGNT2 was added
gene: POMGNT2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to Walker-Warburg syndrome; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type
Other rare neuromuscular disorders v0.3 POMGNT1 Ellen McDonagh Added phenotypes Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Limb-Girdle Muscular Dystrophy, Recessive for gene: POMGNT1
Other rare neuromuscular disorders v0.3 POMGNT1 Ellen McDonagh gene: POMGNT1 was added
gene: POMGNT1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157
Other rare neuromuscular disorders v0.3 PNPLA2 Ellen McDonagh gene: PNPLA2 was added
gene: PNPLA2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA2 were set to 21544567
Phenotypes for gene: PNPLA2 were set to Neutral Lipid Storage Disease with Myopathy; Neutral lipid storage disease with myopathy, 610717
Other rare neuromuscular disorders v0.3 PLEKHG5 Ellen McDonagh gene: PLEKHG5 was added
gene: PLEKHG5 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG5 were set to 17564964
Phenotypes for gene: PLEKHG5 were set to Spinal muscular atrophy, distal, autosomal recessive, 4, 611067; Distal Spinal Muscular Atrophy
Other rare neuromuscular disorders v0.3 PLEC Ellen McDonagh Added phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670 for gene: PLEC
Other rare neuromuscular disorders v0.3 PLEC Ellen McDonagh Added phenotypes myasthenic syndrome; Plectin deficiency; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS); Congenital myasthenic syndrome for gene: PLEC
Publications for gene PLEC were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 10446808; 27472506 (Review); 21175599; 21263134; 25683118
Other rare neuromuscular disorders v0.3 PLEC Ellen McDonagh gene: PLEC was added
gene: PLEC was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEC were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: PLEC were set to Limb-girdle muscular dystrophy; Muscular dystrophy with epidermolysis bullosa simplex, 226670
Other rare neuromuscular disorders v0.3 PHKB Ellen McDonagh gene: PHKB was added
gene: PHKB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHKB were set to 27604308
Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive
Other rare neuromuscular disorders v0.3 PGM1 Ellen McDonagh gene: PGM1 was added
gene: PGM1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM1 were set to 25929793; 19625727; 22492991
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It
Other rare neuromuscular disorders v0.3 PGAM2 Ellen McDonagh gene: PGAM2 was added
gene: PGAM2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAM2 were set to 25929793; 19273759; 8447317
Phenotypes for gene: PGAM2 were set to Glycogen storage disease X
Other rare neuromuscular disorders v0.3 PFKM Ellen McDonagh gene: PFKM was added
gene: PFKM was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFKM were set to 25929793; 8037209; 11949936
Phenotypes for gene: PFKM were set to Glycogen storage disease VII
Other rare neuromuscular disorders v0.3 NEB Ellen McDonagh Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030; Nemaline Myopathy, Recessive; nemaline myopathy for gene: NEB
Publications for gene NEB were changed from to 12207937
Other rare neuromuscular disorders v0.3 NEB Ellen McDonagh gene: NEB was added
gene: NEB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to Nemaline myopathy 2, 256030
Other rare neuromuscular disorders v0.3 MYPN Ellen McDonagh gene: MYPN was added
gene: MYPN was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYPN were set to 28220527
Phenotypes for gene: MYPN were set to Congenital cap myopathy
Other rare neuromuscular disorders v0.3 MYO9A Ellen McDonagh gene: MYO9A was added
gene: MYO9A was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO9A were set to 27259756
Phenotypes for gene: MYO9A were set to congenital myasthenic syndrome; CMS
Other rare neuromuscular disorders v0.3 MYO18B Ellen McDonagh gene: MYO18B was added
gene: MYO18B was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO18B were set to 27858739; 25748484; 27879346
Phenotypes for gene: MYO18B were set to KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Other rare neuromuscular disorders v0.3 MYMK Ellen McDonagh Added phenotypes Carey-Fineman-Ziter syndrome for gene: MYMK
Other rare neuromuscular disorders v0.3 MYMK Ellen McDonagh gene: MYMK was added
gene: MYMK was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYMK were set to 28681861
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome
Other rare neuromuscular disorders v0.3 MYL1 Ellen McDonagh gene: MYL1 was added
gene: MYL1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL1 were set to 21063730
Phenotypes for gene: MYL1 were set to congenital myopathy
Other rare neuromuscular disorders v0.3 MYBPC3 Ellen McDonagh gene: MYBPC3 was added
gene: MYBPC3 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MYBPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC3 were set to 19858127
Phenotypes for gene: MYBPC3 were set to myopathy and cardiomyopathy
Other rare neuromuscular disorders v0.3 MUSK Ellen McDonagh gene: MUSK was added
gene: MUSK was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUSK were set to 16550915; 19949040; 15496425; 23326516; 24183479
Phenotypes for gene: MUSK were set to Congenital Myasthenic Syndrome, Recessive; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 MICU1 Ellen McDonagh Added phenotypes myopathy with extrapyramidal signs for gene: MICU1
Other rare neuromuscular disorders v0.3 MICU1 Ellen McDonagh gene: MICU1 was added
gene: MICU1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MICU1 were set to 24336167
Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673 (3)
Other rare neuromuscular disorders v0.3 MEGF10 Ellen McDonagh gene: MEGF10 was added
gene: MEGF10 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEGF10 were set to 22101682
Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia
Other rare neuromuscular disorders v0.3 MAP3K20 Ellen McDonagh gene: MAP3K20 was added
gene: MAP3K20 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAP3K20 were set to 27816943
Phenotypes for gene: MAP3K20 were set to congenital myopathy with fibre type disproportion
Other rare neuromuscular disorders v0.3 LRP4 Ellen McDonagh gene: LRP4 was added
gene: LRP4 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP4 were set to PMID: 24234652; PMID: 26052878
Phenotypes for gene: LRP4 were set to Myasthenic syndrome, congenital, 17, 616304; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 LPIN1 Ellen McDonagh gene: LPIN1 was added
gene: LPIN1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN1 were set to 25929793
Other rare neuromuscular disorders v0.3 LMOD3 Ellen McDonagh gene: LMOD3 was added
gene: LMOD3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD3 were set to PMID 25250574
Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10 616165
Other rare neuromuscular disorders v0.3 LIMS2 Ellen McDonagh gene: LIMS2 was added
gene: LIMS2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: LIMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIMS2 were set to 25589244
Phenotypes for gene: LIMS2 were set to Muscular dystrophy, limb-girdle, type 2W
Other rare neuromuscular disorders v0.3 LGI4 Ellen McDonagh gene: LGI4 was added
gene: LGI4 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI4 were set to 16341215; 28318499; 15857855
Phenotypes for gene: LGI4 were set to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; Arthrogryposis Multiplex Congenita; AMCNMY
Other rare neuromuscular disorders v0.3 LDHA Ellen McDonagh gene: LDHA was added
gene: LDHA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LDHA were set to 27604308; 1953713
Other rare neuromuscular disorders v0.3 LARGE1 Ellen McDonagh gene: LARGE1 was added
gene: LARGE1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Congenital Muscular Dystrophy, alpha-dystroglycan related
Other rare neuromuscular disorders v0.3 LAMB2 Ellen McDonagh gene: LAMB2 was added
gene: LAMB2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 27472506 (Review); 19251977
Phenotypes for gene: LAMB2 were set to congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations; synaptic congenital myasthenic syndrome; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 LAMA2 Ellen McDonagh gene: LAMA2 was added
gene: LAMA2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient, 607855; Congenital Muscular Dystrophy, LAMA2-related; Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855
Other rare neuromuscular disorders v0.3 KY Ellen McDonagh gene: KY was added
gene: KY was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KY were set to 27484770
Phenotypes for gene: KY were set to congenital myopathy
Other rare neuromuscular disorders v0.3 KLHL41 Ellen McDonagh gene: KLHL41 was added
gene: KLHL41 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL41 were set to 24268659
Phenotypes for gene: KLHL41 were set to Nemaline myopathy 9, 615731 (3)
Other rare neuromuscular disorders v0.3 KLHL40 Ellen McDonagh gene: KLHL40 was added
gene: KLHL40 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL40 were set to 23746549
Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, 615348
Other rare neuromuscular disorders v0.3 ITGA7 Ellen McDonagh gene: ITGA7 was added
gene: ITGA7 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA7 were set to 26076707; 9590299; 18045857
Phenotypes for gene: ITGA7 were set to Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204; Congenital Muscular Dystrophy, ITGA7-related
Other rare neuromuscular disorders v0.3 ISPD Ellen McDonagh Source Expert Review Red was added to ISPD.
Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 for gene: ISPD
Publications for gene ISPD were changed from to 23390185
Rating Changed from Green List (high evidence) to Red List (low evidence)
Other rare neuromuscular disorders v0.3 ISPD Ellen McDonagh gene: ISPD was added
gene: ISPD was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643; Walker-Warburg syndrome (WWS); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; 616052
Other rare neuromuscular disorders v0.3 ISCU Ellen McDonagh Added phenotypes Myopathy with lactic acidosis, hereditary, 255125 for gene: ISCU
Publications for gene ISCU were changed from 21165651; 22125086 to 18296749
Other rare neuromuscular disorders v0.3 ISCU Ellen McDonagh gene: ISCU was added
gene: ISCU was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCU were set to 21165651; 22125086
Phenotypes for gene: ISCU were set to Myopathy with lactic acidosis, hereditary
Other rare neuromuscular disorders v0.3 INPP5K Ellen McDonagh gene: INPP5K was added
gene: INPP5K was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP5K were set to 28190459; 28190456
Phenotypes for gene: INPP5K were set to Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment; Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
Other rare neuromuscular disorders v0.3 IGHMBP2 Ellen McDonagh gene: IGHMBP2 was added
gene: IGHMBP2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress, 604320
Mode of pathogenicity for gene: IGHMBP2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Other rare neuromuscular disorders v0.3 HTRA2 Ellen McDonagh gene: HTRA2 was added
gene: HTRA2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 27696117; 27208207
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII
Other rare neuromuscular disorders v0.3 HADHB Ellen McDonagh gene: HADHB was added
gene: HADHB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 25929793
Other rare neuromuscular disorders v0.3 HADHA Ellen McDonagh gene: HADHA was added
gene: HADHA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 25929793
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency
Other rare neuromuscular disorders v0.3 HACD1 Ellen McDonagh gene: HACD1 was added
gene: HACD1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACD1 were set to 23933735
Phenotypes for gene: HACD1 were set to congenital myopathy
Other rare neuromuscular disorders v0.3 GYS1 Ellen McDonagh gene: GYS1 was added
gene: GYS1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GYS1 were set to 27604308; 19699667; 17928598; 24579562; 21958591
Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle
Other rare neuromuscular disorders v0.3 GYG1 Ellen McDonagh gene: GYG1 was added
gene: GYG1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GYG1 were set to 26652229; 26255073; 27544502; 25272951; 20357282
Phenotypes for gene: GYG1 were set to ?Glycogen storage disease XV
Other rare neuromuscular disorders v0.3 GNE Ellen McDonagh gene: GNE was added
gene: GNE was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Nonaka myopathy 605820
Other rare neuromuscular disorders v0.3 GMPPB Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 for gene: GMPPB
Publications for gene GMPPB were changed from PMID: 27147698; PMID: 26133662 to 26133662; 23768512
Other rare neuromuscular disorders v0.3 GMPPB Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type for gene: GMPPB
Other rare neuromuscular disorders v0.3 GMPPB Ellen McDonagh gene: GMPPB was added
gene: GMPPB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPB were set to PMID: 27147698; PMID: 26133662
Phenotypes for gene: GMPPB were set to MDDGC14 with features of CMS; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS; Congenital Myasthenic Syndrome; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 GFPT1 Ellen McDonagh gene: GFPT1 was added
gene: GFPT1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFPT1 were set to 21975507; 23569079; In 13 unrelated families with autosomal recessive congenital myasthenic syndrome-12 (CMS12, OMIM:610542), Senderek et al. (2011, PMID:21310273) identified 18 different mutations in the GFPT1 gene. All mutations were homozygous or compound heterozygous; 22230109
Phenotypes for gene: GFPT1 were set to Limb-girdle congenital myasthenic syndrome; Myasthenia, congenital, 12, with tubular aggregates, 610542; Congenital Myasthenic Syndrome, Recessive; tubular aggregates
Other rare neuromuscular disorders v0.3 GFER Ellen McDonagh gene: GFER was added
gene: GFER was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFER were set to 19409522
Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
Other rare neuromuscular disorders v0.3 GBE1 Ellen McDonagh gene: GBE1 was added
gene: GBE1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 15452297; 20058079
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV
Other rare neuromuscular disorders v0.3 GAA Ellen McDonagh Added phenotypes Glycogen storage disease II for gene: GAA
Publications for gene GAA were changed from to 25929793; 14695532; 18425781
Other rare neuromuscular disorders v0.3 GAA Ellen McDonagh gene: GAA was added
gene: GAA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II
Other rare neuromuscular disorders v0.3 FKTN Ellen McDonagh Added phenotypes Fukuyama congenital muscular dystrophy; Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type for gene: FKTN
Other rare neuromuscular disorders v0.3 FKTN Ellen McDonagh Added phenotypes Fukuyama congenital muscular dystrophy for gene: FKTN
Publications for gene FKTN were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 25929793
Other rare neuromuscular disorders v0.3 FKTN Ellen McDonagh gene: FKTN was added
gene: FKTN was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152; Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800; Limb-girdle muscular dystrophy
Other rare neuromuscular disorders v0.3 FKRP Ellen McDonagh Added phenotypes Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type for gene: FKRP
Publications for gene FKRP were changed from to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Other rare neuromuscular disorders v0.3 FKRP Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 for gene: FKRP
Other rare neuromuscular disorders v0.3 FKRP Ellen McDonagh gene: FKRP was added
gene: FKRP was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
Other rare neuromuscular disorders v0.3 FKBP14 Ellen McDonagh gene: FKBP14 was added
gene: FKBP14 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKBP14 were set to 22265013
Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,
Other rare neuromuscular disorders v0.3 EXOSC8 Ellen McDonagh gene: EXOSC8 was added
gene: EXOSC8 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC8 were set to 24989451
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C 616081
Other rare neuromuscular disorders v0.3 EXOSC3 Ellen McDonagh gene: EXOSC3 was added
gene: EXOSC3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC3 were set to 22544365
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B 614678
Other rare neuromuscular disorders v0.3 ETFDH Ellen McDonagh gene: ETFDH was added
gene: ETFDH was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 25929793
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC
Other rare neuromuscular disorders v0.3 ETFB Ellen McDonagh gene: ETFB was added
gene: ETFB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 25929793
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB
Other rare neuromuscular disorders v0.3 ETFA Ellen McDonagh gene: ETFA was added
gene: ETFA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 25929793
Other rare neuromuscular disorders v0.3 EPG5 Ellen McDonagh gene: EPG5 was added
gene: EPG5 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23222957
Phenotypes for gene: EPG5 were set to vacuolar myopathy?
Other rare neuromuscular disorders v0.3 ENO3 Ellen McDonagh gene: ENO3 was added
gene: ENO3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ENO3 were set to 25929793; 25267339; 11506403
Phenotypes for gene: ENO3 were set to ?Glycogen storage disease XIII
Other rare neuromuscular disorders v0.3 ECEL1 Ellen McDonagh gene: ECEL1 was added
gene: ECEL1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D 615065
Other rare neuromuscular disorders v0.3 DYSF Ellen McDonagh Source Expert Review Red was added to DYSF.
Added phenotypes Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768; Miyoshi muscular dystrophy 1 254130 for gene: DYSF
Rating Changed from Green List (high evidence) to Red List (low evidence)
Other rare neuromuscular disorders v0.3 DYSF Ellen McDonagh Added phenotypes Myopathy, distal, with anterior tibial onset, 606768; Muscular dystrophy, limb-girdle, type 2B, 253601; Miyoshi muscular dystrophy 1, 254130 for gene: DYSF
Publications for gene DYSF were changed from 25929793 to 25821721
Other rare neuromuscular disorders v0.3 DYSF Ellen McDonagh Added phenotypes Miyoshi muscular dystrophy 1 for gene: DYSF
Publications for gene DYSF were changed from 20301480 to 25929793
Other rare neuromuscular disorders v0.3 DYSF Ellen McDonagh Added phenotypes Miyoshi muscular dystrophy 1, 254130 for gene: DYSF
Publications for gene DYSF were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 20301480
Other rare neuromuscular disorders v0.3 DYSF Ellen McDonagh gene: DYSF was added
gene: DYSF was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYSF were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 DPM3 Ellen McDonagh gene: DPM3 was added
gene: DPM3 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM3 were set to 19576565
Phenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io; congenital muscular dystrophies
Other rare neuromuscular disorders v0.3 DPM2 Ellen McDonagh gene: DPM2 was added
gene: DPM2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM2 were set to 23109149; 19901254
Phenotypes for gene: DPM2 were set to musclular dystrophy dystroglycanopathy syndrome with severe epilepsy; Congenital disorder of glycosylation, type Iu 615042
Other rare neuromuscular disorders v0.3 DPM1 Ellen McDonagh gene: DPM1 was added
gene: DPM1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM1 were set to congenital muscular dystrophies; Congenital disorder of glycosylation, type Ie
Other rare neuromuscular disorders v0.3 DPAGT1 Ellen McDonagh gene: DPAGT1 was added
gene: DPAGT1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 22742743; 23447650; 25500013; 23591138; 23278575
Phenotypes for gene: DPAGT1 were set to Limb girdle congenital myasthenic; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Congenital disorder of glycosylation, type Ij, 608093; tubular aggregates; congenital disorder of glycosylation type Ij (CDG-IJ)
Other rare neuromuscular disorders v0.3 DOLK Ellen McDonagh gene: DOLK was added
gene: DOLK was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 22242004; 17273964; 23890587
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im
Other rare neuromuscular disorders v0.3 DOK7 Ellen McDonagh gene: DOK7 was added
gene: DOK7 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOK7 were set to 22661499; 17452375; 18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.; 16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300)
Phenotypes for gene: DOK7 were set to Limb girdle congenital myasthenic syndrome; Myasthenia, limb-girdle, familial; Myasthenic syndrome, congenital, 10, 254300
Other rare neuromuscular disorders v0.3 DNAJB2 Ellen McDonagh gene: DNAJB2 was added
gene: DNAJB2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB2 were set to 22522442
Phenotypes for gene: DNAJB2 were set to Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
Other rare neuromuscular disorders v0.3 DAG1 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 for gene: DAG1
Publications for gene DAG1 were changed from 24052401; 26380289 (review of mouse models); 22810924 (functional evidence); 25934851 to 21388311; 25503980
Other rare neuromuscular disorders v0.3 DAG1 Ellen McDonagh gene: DAG1 was added
gene: DAG1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAG1 were set to 24052401; 26380289 (review of mouse models); 22810924 (functional evidence); 25934851
Phenotypes for gene: DAG1 were set to congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9; congenital muscular dystrophies; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538; Walker-Warburg syndrome
Other rare neuromuscular disorders v0.3 CPT2 Ellen McDonagh Added phenotypes CPT II deficiency, lethal neonatal 608836; CPT II deficiency, infantile 600649; CPT II deficiency, myopathic, stress-induced 255110 for gene: CPT2
Publications for gene CPT2 were changed from 23911907; 25929793; 10873395 to 16602102
Other rare neuromuscular disorders v0.3 CPT2 Ellen McDonagh gene: CPT2 was added
gene: CPT2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 23911907; 25929793; 10873395
Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced
Other rare neuromuscular disorders v0.3 COLQ Ellen McDonagh gene: COLQ was added
gene: COLQ was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLQ were set to 10441569; 9689136; 10665486; PMID:18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages
Phenotypes for gene: COLQ were set to Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency; Congenital Myasthenic Syndrome, Recessive; Myasthenic syndrome, congenital, 5, 603034
Other rare neuromuscular disorders v0.3 COL13A1 Ellen McDonagh gene: COL13A1 was added
gene: COL13A1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL13A1 were set to PMID: 26626625
Phenotypes for gene: COL13A1 were set to Congenital myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720
Other rare neuromuscular disorders v0.3 CNTN1 Ellen McDonagh gene: CNTN1 was added
gene: CNTN1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN1 were set to 19026398
Phenotypes for gene: CNTN1 were set to ?Myopathy, congenital, Compton-North, 612540
Other rare neuromuscular disorders v0.3 CHRNG Ellen McDonagh gene: CHRNG was added
gene: CHRNG was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNG were set to 25411939; PMID:16826520 (Hoffmann et al., 2006) conclude that Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. AChRs have five subunits including two alpha, one beta and one delta. For the fifth subunit, gamma subunits are present in early development (switching to epsilon subunits in late fetal development).; 22167768; 8040310; 27245440; 16826531
Phenotypes for gene: CHRNG were set to escobar syndrome; Neonatal congenital myasthenia; multiple pterygium syndrome/MPS; Myasthenia gravis, neonatal transient; fetal akinesia deformation sequence syndrome/FADS
Other rare neuromuscular disorders v0.3 CHKB Ellen McDonagh gene: CHKB was added
gene: CHKB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Congenital Muscular Dystrophy, CKHB-related; Muscular dystrophy, congenital, megaconial type, 602541
Other rare neuromuscular disorders v0.3 CHAT Ellen McDonagh gene: CHAT was added
gene: CHAT was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHAT were set to 11172068; 12756141
Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, 254210; CMS-EA; Congenital myasthenics sndrome associated with episodic apnea
Other rare neuromuscular disorders v0.3 CFL2 Ellen McDonagh gene: CFL2 was added
gene: CFL2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFL2 were set to 17160903; 22560515; 24610938
Phenotypes for gene: CFL2 were set to Nemaline Myopathy, Recessive; Nemaline myopathy 7, autosomal recessive, 610687
Other rare neuromuscular disorders v0.3 CAPN3 Ellen McDonagh gene: CAPN3 was added
gene: CAPN3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN3 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 BVES Ellen McDonagh gene: BVES was added
gene: BVES was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: BVES was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BVES were set to 26642364
Phenotypes for gene: BVES were set to Muscular dystrophy, limb-girdle, type 2X
Other rare neuromuscular disorders v0.3 BIN1 Ellen McDonagh gene: BIN1 was added
gene: BIN1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive, 255200; Centronuclear Myopathy, Recessive
Other rare neuromuscular disorders v0.3 B4GAT1 Ellen McDonagh gene: B4GAT1 was added
gene: B4GAT1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GAT1 were set to 23877401 - both publications refer to the gene as B3GNT1 but provide NM_006876.2 as the reference which corresponds to the new gene symbol B4GAT1; 23359570
Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Other rare neuromuscular disorders v0.3 B3GALNT2 Ellen McDonagh gene: B3GALNT2 was added
gene: B3GALNT2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALNT2 were set to 23453667
Phenotypes for gene: B3GALNT2 were set to congenital muscular dystrophies; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
Other rare neuromuscular disorders v0.3 ATP2A1 Ellen McDonagh gene: ATP2A1 was added
gene: ATP2A1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP2A1 were set to Brody myopathy, 601003; Brody Myopathy
Other rare neuromuscular disorders v0.3 ASAH1 Ellen McDonagh gene: ASAH1 was added
gene: ASAH1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASAH1 were set to 22703880
Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Other rare neuromuscular disorders v0.3 ANO5 Ellen McDonagh Added phenotypes Gnathodiaphyseal dysplasia, 166260; Limb-Girdle Muscular Dystrophy, Recessive; Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319 for gene: ANO5
Other rare neuromuscular disorders v0.3 ANO5 Ellen McDonagh Added phenotypes Miyoshi muscular dystrophy 3 for gene: ANO5
Publications for gene ANO5 were changed from 20096397 to 25929793
Other rare neuromuscular disorders v0.3 ANO5 Ellen McDonagh Added phenotypes Miyoshi muscular dystrophy 3, 613319 for gene: ANO5
Other rare neuromuscular disorders v0.3 ANO5 Ellen McDonagh gene: ANO5 was added
gene: ANO5 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO5 were set to 20096397
Phenotypes for gene: ANO5 were set to Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy; Gnathodiaphyseal dysplasia, 166260Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319
Other rare neuromuscular disorders v0.3 AMPD1 Ellen McDonagh gene: AMPD1 was added
gene: AMPD1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD1 were set to 15803807; 23543093; 25929793; 19258857
Phenotypes for gene: AMPD1 were set to Rhabdomyolysis
Other rare neuromuscular disorders v0.3 ALS2 Ellen McDonagh gene: ALS2 was added
gene: ALS2 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALS2 were set to 11586297; 20018642
Phenotypes for gene: ALS2 were set to juvenile amyotrophic lateral sclerosis-2, 205100
Other rare neuromuscular disorders v0.3 ALG2 Ellen McDonagh gene: ALG2 was added
gene: ALG2 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG2 were set to 23404334
Phenotypes for gene: ALG2 were set to Congenital disorder of glycosylation CDG type Ii, 607906; Congenital myasthenic syndromes; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
Other rare neuromuscular disorders v0.3 ALG14 Ellen McDonagh gene: ALG14 was added
gene: ALG14 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to PMID: 23404334
Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 ALDOA Ellen McDonagh gene: ALDOA was added
gene: ALDOA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOA were set to 25392908; 25929793; 8598869; 2825199; 14615364
Phenotypes for gene: ALDOA were set to Glycogen storage disease XII
Other rare neuromuscular disorders v0.3 AGRN Ellen McDonagh gene: AGRN was added
gene: AGRN was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGRN were set to 22205389; 19631309; 24951643
Phenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 AGL Ellen McDonagh gene: AGL was added
gene: AGL was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGL were set to 20648714; 25929793
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa
Other rare neuromuscular disorders v0.3 ACADVL Ellen McDonagh gene: ACADVL was added
gene: ACADVL was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADVL were set to 25929793; 9973285; 8739957
Phenotypes for gene: ACADVL were set to VLCAD deficiency
Other rare neuromuscular disorders v0.3 ACADM Ellen McDonagh gene: ACADM was added
gene: ACADM was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of; Rhabdomyolysis
Other rare neuromuscular disorders v0.3 ACAD9 Ellen McDonagh gene: ACAD9 was added
gene: ACAD9 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD9 were set to 25929793
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
Other rare neuromuscular disorders v0.2 Ellen McDonagh List of related panels changed from to Other rare neuromuscular disorders; GMS R381
Other rare neuromuscular disorders v0.1 Ellen McDonagh Panel status changed from internal to public
Other rare neuromuscular disorders v0.0 Ellen McDonagh Added Panel Neuromuscular disorders
Set panel types to: GMS Rare Disease Virtual