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Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.84 INPP4A Chirag Patel gene: INPP4A was added
gene: INPP4A was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to PMID: 39315527
Phenotypes for gene: INPP4A were set to INPP4A-related neurodevelopmental disorder
Review for gene: INPP4A was set to GREEN
Added comment: PMID: 39315527
30 individuals (aged 6 months to 40 years) from 17 unrelated families with biallelic LOF variants in INPP4A gene (11 nonsense or frameshift and 3 missense, mostly exon 4).

Cardinal clinical features include: severe global developmental delay, profound speech impairment, severe-profound intellectual disability, and severe lower limb weakness/paralysis. More variable clinical features include: microcephaly, short stature, cerebellar signs, involuntary movements, axial hypotonia, spasticity, quadriparesis, joint contractures, seizures, visual impairment. Neuroimaging findings vary from normal to features of (ponto)cerebellar hypoplasia, ventriculomegaly, reduced cerebral volume and hypomyelination. A more severe presentation is seen with variants downstream of exon 4.

Preliminary fibroblast cell studies identify disruption of endocytic pathways as the likely mechanism of disease, consistent with previous findings of a role of INPP4A in endocytosis. All mouse models display a phenotype mirroring human INPP4A-related neurodevelopmental disorder entailing a severe movement disorder with inability to walk, a small brain, and poor growth/weight gain.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.83 MYMX Chirag Patel Classified gene: MYMX as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.83 MYMX Chirag Patel Gene: mymx has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.82 MYMX Chirag Patel Classified gene: MYMX as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.82 MYMX Chirag Patel Gene: mymx has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.81 MYMX Chirag Patel reviewed gene: MYMX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39668186; Phenotypes: congenital myopathy MONDO:0019952, congenital myopathy with facial palsy, growth restriction, and dysmorphism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.81 HMGCS1 Zornitza Stark Marked gene: HMGCS1 as ready
Muscular dystrophy and myopathy_Paediatric v1.81 HMGCS1 Zornitza Stark Gene: hmgcs1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.81 HMGCS1 Zornitza Stark Classified gene: HMGCS1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.81 HMGCS1 Zornitza Stark Gene: hmgcs1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.80 HMGCS1 Zornitza Stark gene: HMGCS1 was added
gene: HMGCS1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: HMGCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCS1 were set to 39531736
Phenotypes for gene: HMGCS1 were set to Rigid spine syndrome, MONDO:0019951, HMGCS1-related
Review for gene: HMGCS1 was set to GREEN
Added comment: Five individuals from four families reported. All individuals presented with spinal rigidity primarily affecting the cervical and dorsolumbar regions, scoliosis, and respiratory insufficiency. Creatine kinase levels were variably elevated. The clinical course worsened with intercurrent disease or certain drugs in some; one individual died from respiratory failure following infection. Muscle biopsies revealed irregularities in oxidative enzyme staining with occasional internal nuclei and rimmed vacuoles.
HMGCS1 encodes a critical enzyme of the mevalonate pathway. Notably, biallelic hypomorphic variants in downstream enzymes including HMGCR and GGPS1 are associated with muscular dystrophy. Hmgcs1 mutant zebrafish displayed severe early defects, including immobility at 2 days and death by day 3 post-fertilisation and were rescued by HMGCS1 mRNA. Four variants tested (S447P, Q29L M70T, and C268S) have reduced function compared to wildtype HMGCS1 in zebrafish rescue assays
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.79 RFC4 Zornitza Stark Marked gene: RFC4 as ready
Muscular dystrophy and myopathy_Paediatric v1.79 RFC4 Zornitza Stark Gene: rfc4 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.79 RFC4 Zornitza Stark Phenotypes for gene: RFC4 were changed from Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010 to Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010
Muscular dystrophy and myopathy_Paediatric v1.79 RFC4 Zornitza Stark Phenotypes for gene: RFC4 were changed from RFC4-related multisystem disorder to Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010
Muscular dystrophy and myopathy_Paediatric v1.78 RFC4 Zornitza Stark reviewed gene: RFC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.78 DTNA Zornitza Stark Marked gene: DTNA as ready
Muscular dystrophy and myopathy_Paediatric v1.78 DTNA Zornitza Stark Gene: dtna has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.78 DTNA Zornitza Stark Phenotypes for gene: DTNA were changed from Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis MONDO:0859322 to Muscular dystrophy, MONDO:0020121, DTNA-related
Muscular dystrophy and myopathy_Paediatric v1.77 DTNA Chirag Patel Classified gene: DTNA as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.77 DTNA Chirag Patel Gene: dtna has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.76 DTNA Chirag Patel gene: DTNA was added
gene: DTNA was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DTNA were set to PMID: 36799992
Phenotypes for gene: DTNA were set to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis MONDO:0859322
Mode of pathogenicity for gene: DTNA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: DTNA was set to GREEN
Added comment: 12 individuals from 4 unrelated families with 2 different monoallelic DTNA variants in exon 18 and affecting the coiled-coil domain of α-dystrobrevin (DTNA). DTNA encodes α-dystrobrevin, a component of the macromolecular dystrophin-glycoprotein complex (DGC) that binds to dystrophin/utrophin and α-syntrophin. Mice lacking α-dystrobrevin have a muscular dystrophy phenotype.

Clinical features with onset between 1st and 4th decades included: myalgia, muscle cramps associated with physical activity, exercise intolerance, and increased serum CK (11/12). Most patients have mild symptoms, only 3 had mild proximal muscle weakness of the lower limbs, and 1 had episode of rhabdomyolysis @20yrs. Muscle biopsies in 8 individuals showed mild myopathic and/or dystrophic features.

The 2 variants (p.Glu529Lys and p.Gln523_Glu529del) were found by targeted exome sequencing and confirmed by Sanger sequencing. They segregated with the disorder in the families and were absent in gnomAD. Immunofluorescent analysis of patient muscle samples showed decreased DTNA immunoreactivity at the sarcolemma, as well as variably reduced immunoreactivity of several other dystrophin-glycoprotein complex (DGC) proteins, suggesting that the DTNA variants resulted in overall destabilization of the DG complex within skeletal muscle.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.75 CIAO1 Zornitza Stark Phenotypes for gene: CIAO1 were changed from Neurodegenerative disease, MONDO:0005559, CIAO1-related to Multiple mitochondrial dysfunctions syndrome 10, MIM#620960
Muscular dystrophy and myopathy_Paediatric v1.74 CIAO1 Zornitza Stark reviewed gene: CIAO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 10, MIM#620960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.74 JPH1 Zornitza Stark Phenotypes for gene: JPH1 were changed from Congenital myopathy MONDO:0019952 to Congenital myopathy 25, MIM# 620964
Muscular dystrophy and myopathy_Paediatric v1.73 JPH1 Zornitza Stark reviewed gene: JPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 25, MIM# 620964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.73 FKRP Bryony Thompson Publications for gene: FKRP were set to
Muscular dystrophy and myopathy_Paediatric v1.72 FKRP Bryony Thompson Marked gene: FKRP as ready
Muscular dystrophy and myopathy_Paediatric v1.72 FKRP Bryony Thompson Gene: fkrp has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.72 FKRP Bryony Thompson Phenotypes for gene: FKRP were changed from to myopathy caused by variation in FKRP MONDO:0700066
Muscular dystrophy and myopathy_Paediatric v1.71 FKRP Bryony Thompson Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.70 JPH1 Zornitza Stark Classified gene: JPH1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.70 JPH1 Zornitza Stark Gene: jph1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.70 JPH1 Zornitza Stark Classified gene: JPH1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.70 JPH1 Zornitza Stark Gene: jph1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.70 RFC4 Chirag Patel Classified gene: RFC4 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.70 RFC4 Chirag Patel Gene: rfc4 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.70 JPH1 Zornitza Stark Marked gene: JPH1 as ready
Muscular dystrophy and myopathy_Paediatric v1.70 JPH1 Zornitza Stark Gene: jph1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.70 JPH1 Zornitza Stark Classified gene: JPH1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.70 JPH1 Zornitza Stark Gene: jph1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.69 RFC4 Chirag Patel Classified gene: RFC4 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.69 RFC4 Chirag Patel Gene: rfc4 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.69 RFC4 Chirag Patel Classified gene: RFC4 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.69 RFC4 Chirag Patel Gene: rfc4 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.68 RFC4 Chirag Patel gene: RFC4 was added
gene: RFC4 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: RFC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC4 were set to PMID: 39106866
Phenotypes for gene: RFC4 were set to RFC4-related multisystem disorder
Review for gene: RFC4 was set to GREEN
gene: RFC4 was marked as current diagnostic
Added comment: 9 affected individuals (aged birth to 47yrs) from 8 unrelated families with a multisystem disorder. Clinical features included: muscle weakness/myopathy (9/9), motor incoordination/gait disturbance (8/8), delayed gross motor development (6/9), dysarthria (5/5), peripheral neuropathy (3/3 adults), bilateral sensorineural hearing impairment (6/9), decreased body weight (8/9), short stature (5/9), microcephaly (4/9), respiratory issues/insufficiency (6/9), cerebellar atrophy (4/9), pituitary hypoplasia (3/9).

WES or WGS identified biallelic loss-of-function variants in RFC4 (3 frameshift, 2 splice site, 1 single AA duplication, 2 single AA deletions, 2 missense), and almost all are likely to disrupt the C-terminal domain indispensable for Replication factor C (RFC) complex formation. All variants segregated with the disease.

The RFC complex (with 5 subunits) is central to process of regulation of DNA replication, and it loads proliferating cell nuclear antigen onto DNA to facilitate the recruitment of replication and repair proteins and enhance DNA polymerase processivity. RFC1 is associated with CANVAS but the contributions of RFC2-5 subunits on human Mendelian disorders is unknown.

Analysis of a previously determined cryo-EM structure of RFC bound to proliferating cell nuclear antigen suggested that the variants disrupt interactions within RFC4 and/or destabilize the RFC complex. Cellular studies using RFC4-deficient HeLa cells and primary fibroblasts demonstrated decreased RFC4 protein, compromised stability of the other RFC complex subunits, and perturbed RFC complex formation. Additionally, functional studies of the RFC4 variants affirmed diminished RFC complex formation, and cell cycle studies suggested perturbation of DNA replication and cell cycle progression.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.67 JPH1 Sangavi Sivagnanasundram gene: JPH1 was added
gene: JPH1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Other
Mode of inheritance for gene: JPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JPH1 were set to 39209426
Phenotypes for gene: JPH1 were set to Congenital myopathy MONDO:0019952
Review for gene: JPH1 was set to GREEN
Added comment: 4 unrelated probands presented with congenital myopathy with facial weakness and ocular involvement. All individuals had presence of 4 different LoF variants identified in JPH1.

p.(Asp125Thrfs*30), p.(Tyr118*), p.(Leu580Trpfs*16) and p.(Glu504Serfs*3) - all variants were absent from gnomADv4.1
Sources: Other
Muscular dystrophy and myopathy_Paediatric v1.67 CSMD1 Zornitza Stark Marked gene: CSMD1 as ready
Muscular dystrophy and myopathy_Paediatric v1.67 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.67 CSMD1 Zornitza Stark Classified gene: CSMD1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.67 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.66 CSMD1 Krithika Murali gene: CSMD1 was added
gene: CSMD1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSMD1 were set to PMID 38816421
Phenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038
Added comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.

Loss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autisim and ID GCEP.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.65 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Muscular dystrophy and myopathy_Paediatric v1.65 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v1.65 DPAGT1 Bryony Thompson Marked gene: DPAGT1 as ready
Muscular dystrophy and myopathy_Paediatric v1.65 DPAGT1 Bryony Thompson Gene: dpagt1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.65 DPAGT1 Bryony Thompson Classified gene: DPAGT1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.65 DPAGT1 Bryony Thompson Gene: dpagt1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.64 DPAGT1 Bryony Thompson gene: DPAGT1 was added
gene: DPAGT1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 38982518; 38443029; 38124360; 29356258; 24759841
Phenotypes for gene: DPAGT1 were set to tubular aggregate myopathy MONDO:0008051
Review for gene: DPAGT1 was set to GREEN
gene: DPAGT1 was marked as current diagnostic
Added comment: 3 cases reported with congenital myopathy, and at least 2 case with CMS mimicking a congenital myopathy
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.63 ALG14 Bryony Thompson Marked gene: ALG14 as ready
Muscular dystrophy and myopathy_Paediatric v1.63 ALG14 Bryony Thompson Gene: alg14 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.63 ALG14 Bryony Thompson Classified gene: ALG14 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.63 ALG14 Bryony Thompson Gene: alg14 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.62 ALG14 Bryony Thompson gene: ALG14 was added
gene: ALG14 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 38982518; 28733338
Phenotypes for gene: ALG14 were set to congenital myopathy MONDO:0019952
Review for gene: ALG14 was set to AMBER
gene: ALG14 was marked as current diagnostic
Added comment: 2 cases have been reported with congenital myopathy with biallelic variants.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.61 UNC45B Bryony Thompson Marked gene: UNC45B as ready
Muscular dystrophy and myopathy_Paediatric v1.61 UNC45B Bryony Thompson Gene: unc45b has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.61 UNC45B Bryony Thompson Classified gene: UNC45B as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.61 UNC45B Bryony Thompson Gene: unc45b has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.59 UNC45B Bryony Thompson gene: UNC45B was added
gene: UNC45B was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.58 CASQ1 Bryony Thompson Marked gene: CASQ1 as ready
Muscular dystrophy and myopathy_Paediatric v1.58 CASQ1 Bryony Thompson Gene: casq1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.58 CASQ1 Bryony Thompson Classified gene: CASQ1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.58 CASQ1 Bryony Thompson Gene: casq1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.57 CASQ1 Bryony Thompson gene: CASQ1 was added
gene: CASQ1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CASQ1 were set to 38982518
Phenotypes for gene: CASQ1 were set to tubular aggregate myopathy MONDO:0008051
Mode of pathogenicity for gene: CASQ1 was set to Other
Review for gene: CASQ1 was set to AMBER
gene: CASQ1 was marked as current diagnostic
Added comment: 2 cases have been reported with congenital myopathy. Gain of function is expected to be the mechanism of disease.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.56 ORAI1 Bryony Thompson Marked gene: ORAI1 as ready
Muscular dystrophy and myopathy_Paediatric v1.56 ORAI1 Bryony Thompson Gene: orai1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.56 ORAI1 Bryony Thompson Classified gene: ORAI1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.56 ORAI1 Bryony Thompson Gene: orai1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.55 ORAI1 Bryony Thompson gene: ORAI1 was added
gene: ORAI1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: ORAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ORAI1 were set to 31448844; 38982518
Phenotypes for gene: ORAI1 were set to tubular aggregate myopathy MONDO:0008051
Mode of pathogenicity for gene: ORAI1 was set to Other
Review for gene: ORAI1 was set to GREEN
gene: ORAI1 was marked as current diagnostic
Added comment: >4 cases with congenital myopathy. Gain of function is the mechanism of disease.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.54 STIM1 Bryony Thompson Marked gene: STIM1 as ready
Muscular dystrophy and myopathy_Paediatric v1.54 STIM1 Bryony Thompson Gene: stim1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.54 STIM1 Bryony Thompson Classified gene: STIM1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.54 STIM1 Bryony Thompson Gene: stim1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.53 STIM1 Bryony Thompson gene: STIM1 was added
gene: STIM1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STIM1 were set to 38982518; 31448844
Phenotypes for gene: STIM1 were set to tubular aggregate myopathy MONDO:0008051
Mode of pathogenicity for gene: STIM1 was set to Other
Review for gene: STIM1 was set to GREEN
gene: STIM1 was marked as current diagnostic
Added comment: >4 cases with congenital myopathy. Gain of function is the mechanism of disease.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.52 OPA1 Bryony Thompson Marked gene: OPA1 as ready
Muscular dystrophy and myopathy_Paediatric v1.52 OPA1 Bryony Thompson Gene: opa1 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v1.52 OPA1 Bryony Thompson gene: OPA1 was added
gene: OPA1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPA1 were set to 38982518
Phenotypes for gene: OPA1 were set to congenital myopathy MONDO:0019952
Review for gene: OPA1 was set to RED
Added comment: A single case with centronuclear myopathy
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.51 IDUA Bryony Thompson Marked gene: IDUA as ready
Muscular dystrophy and myopathy_Paediatric v1.51 IDUA Bryony Thompson Gene: idua has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v1.51 IDUA Bryony Thompson gene: IDUA was added
gene: IDUA was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDUA were set to 38982518
Phenotypes for gene: IDUA were set to congenital myopathy MONDO:0019952
Review for gene: IDUA was set to RED
gene: IDUA was marked as current diagnostic
Added comment: A single case reported with core myopathy.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.50 FOXP3 Bryony Thompson Marked gene: FOXP3 as ready
Muscular dystrophy and myopathy_Paediatric v1.50 FOXP3 Bryony Thompson Gene: foxp3 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v1.50 FOXP3 Bryony Thompson gene: FOXP3 was added
gene: FOXP3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FOXP3 were set to 38982518
Phenotypes for gene: FOXP3 were set to congenital myopathy MONDO:0019952
Review for gene: FOXP3 was set to RED
gene: FOXP3 was marked as current diagnostic
Added comment: Single case reported with centronuclear myopathy.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.49 EXOSC3 Bryony Thompson gene: EXOSC3 was added
gene: EXOSC3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC3 were set to 30025162; 38982518
Phenotypes for gene: EXOSC3 were set to congenital myopathy MONDO:0019952
Review for gene: EXOSC3 was set to RED
Added comment: A single case reported with congenital myopathy as a feature of the condition (also including PCH).
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.48 CHRND Bryony Thompson Marked gene: CHRND as ready
Muscular dystrophy and myopathy_Paediatric v1.48 CHRND Bryony Thompson Gene: chrnd has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v1.48 CHRND Bryony Thompson gene: CHRND was added
gene: CHRND was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: CHRND was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHRND were set to 38982518
Phenotypes for gene: CHRND were set to congenital myopathy MONDO:0019952
Review for gene: CHRND was set to RED
gene: CHRND was marked as current diagnostic
Added comment: Single case with congenital centronuclear myopathy reported
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.47 CHRNA1 Bryony Thompson Classified gene: CHRNA1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.47 CHRNA1 Bryony Thompson Gene: chrna1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.47 CHRNA1 Bryony Thompson Classified gene: CHRNA1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.47 CHRNA1 Bryony Thompson Gene: chrna1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.46 CHRNA1 Bryony Thompson Marked gene: CHRNA1 as ready
Muscular dystrophy and myopathy_Paediatric v1.46 CHRNA1 Bryony Thompson Gene: chrna1 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v1.46 CHRNA1 Bryony Thompson gene: CHRNA1 was added
gene: CHRNA1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CHRNA1 were set to 36634413; 38982518
Phenotypes for gene: CHRNA1 were set to Congenital myopathy MONDO:0019952
Review for gene: CHRNA1 was set to AMBER
Added comment: Congenital myopathy reported in at least 2 cases. One biallelic (loss of function) and one monoallelic (gain of function).
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.45 TTN Bryony Thompson Marked gene: TTN as ready
Muscular dystrophy and myopathy_Paediatric v1.45 TTN Bryony Thompson Gene: ttn has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.45 TTN Bryony Thompson Classified gene: TTN as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.45 TTN Bryony Thompson Gene: ttn has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.44 TTN Bryony Thompson gene: TTN was added
gene: TTN was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
digenic tags were added to gene: TTN.
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 38429495; 38982518
Phenotypes for gene: TTN were set to TTN-related myopathy MONDO:0100175
Review for gene: TTN was set to GREEN
gene: TTN was marked as current diagnostic
Added comment: >4 cases reported with biallelic variants and congenital myopathy (e.g. centronuclear myopathy, cytoplasmic bodies). Digenic heterozygous TTN/SRPK3 variants are also reported with core myopathy.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.43 MYH7 Bryony Thompson Marked gene: MYH7 as ready
Muscular dystrophy and myopathy_Paediatric v1.43 MYH7 Bryony Thompson Gene: myh7 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.43 MYH7 Bryony Thompson Mode of pathogenicity for gene: MYH7 was changed from None to None
Muscular dystrophy and myopathy_Paediatric v1.42 MYH7 Bryony Thompson Classified gene: MYH7 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.42 MYH7 Bryony Thompson Gene: myh7 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.41 MYH7 Bryony Thompson edited their review of gene: MYH7: Changed mode of pathogenicity: Other
Muscular dystrophy and myopathy_Paediatric v1.41 MYH7 Bryony Thompson gene: MYH7 was added
gene: MYH7 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH7 were set to 38982518; 15322983
Phenotypes for gene: MYH7 were set to MYH7-related skeletal myopathy MONDO:0008050
Review for gene: MYH7 was set to GREEN
gene: MYH7 was marked as current diagnostic
Added comment: Congenital myopathy reported in >4 cases/families (e.g. core myopathy). The mechanism for disease is dominant negative.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.40 MTM1 Bryony Thompson Marked gene: MTM1 as ready
Muscular dystrophy and myopathy_Paediatric v1.40 MTM1 Bryony Thompson Gene: mtm1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.40 MTM1 Bryony Thompson Classified gene: MTM1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.40 MTM1 Bryony Thompson Gene: mtm1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.39 MTM1 Bryony Thompson gene: MTM1 was added
gene: MTM1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MTM1 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: MTM1 were set to 30232666; 38982518; 10790201
Phenotypes for gene: MTM1 were set to X-linked myotubular myopathy MONDO:0010683
Review for gene: MTM1 was set to GREEN
gene: MTM1 was marked as current diagnostic
Added comment: >4 cases reported with congenital myopathy (congenital fiber type disorder, centronuclear myopathy, myotubular myopathy). Hemizygous males and heterozygous females are reported.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.38 FHL1 Bryony Thompson Classified gene: FHL1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.38 FHL1 Bryony Thompson Gene: fhl1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.38 FHL1 Bryony Thompson Publications for gene: FHL1 were set to PMID: 19181672; 19171836
Muscular dystrophy and myopathy_Paediatric v1.37 CAV3 Bryony Thompson Marked gene: CAV3 as ready
Muscular dystrophy and myopathy_Paediatric v1.37 CAV3 Bryony Thompson Gene: cav3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.37 CAV3 Bryony Thompson Classified gene: CAV3 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.37 CAV3 Bryony Thompson Gene: cav3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.36 CAV3 Bryony Thompson gene: CAV3 was added
gene: CAV3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAV3 were set to 38982518; 30174172
Phenotypes for gene: CAV3 were set to Caveolinopathy MONDO:0016146
Mode of pathogenicity for gene: CAV3 was set to Other
Review for gene: CAV3 was set to GREEN
gene: CAV3 was marked as current diagnostic
Added comment: At least 4 probands/families reported with congenital/paediatric onset myopathy (1 tubular aggregate myopathy and 3 rippling muscle disease). The mechanism for disease is expected to be dominant negative.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.34 SNUPN Zornitza Stark Phenotypes for gene: SNUPN were changed from autosomal recessive limb-girdle muscular dystrophy MONDO:0015152, SNUPN-related to Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793
Muscular dystrophy and myopathy_Paediatric v1.33 SNUPN Zornitza Stark reviewed gene: SNUPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.33 SRPK3 Zornitza Stark Marked gene: SRPK3 as ready
Muscular dystrophy and myopathy_Paediatric v1.33 SRPK3 Zornitza Stark Gene: srpk3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.33 SRPK3 Zornitza Stark Classified gene: SRPK3 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.33 SRPK3 Zornitza Stark Gene: srpk3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.32 SRPK3 Zornitza Stark Tag digenic tag was added to gene: SRPK3.
Muscular dystrophy and myopathy_Paediatric v1.32 SRPK3 Zornitza Stark gene: SRPK3 was added
gene: SRPK3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SRPK3 were set to 38429495
Phenotypes for gene: SRPK3 were set to Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related
Review for gene: SRPK3 was set to GREEN
Added comment: 33 individuals reported with SRPK3 variants but myopathy only occurred when TTN variant also present (most truncating). Zebrafish model supports digenic model of inheritance.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.31 PACSIN3 Zornitza Stark Marked gene: PACSIN3 as ready
Muscular dystrophy and myopathy_Paediatric v1.31 PACSIN3 Zornitza Stark Gene: pacsin3 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.31 PACSIN3 Zornitza Stark Classified gene: PACSIN3 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.31 PACSIN3 Zornitza Stark Gene: pacsin3 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.30 PACSIN3 Zornitza Stark gene: PACSIN3 was added
gene: PACSIN3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PACSIN3 were set to 38637313
Phenotypes for gene: PACSIN3 were set to Myopathy, MONDO:0005336, PACSIN3-related
Review for gene: PACSIN3 was set to AMBER
Added comment: Two unrelated families with LoF variants, one homozygous. Muscle phenotype including raised CK. Supportive mouse model.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.29 COMP Ain Roesley Marked gene: COMP as ready
Muscular dystrophy and myopathy_Paediatric v1.29 COMP Ain Roesley Gene: comp has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.29 COMP Ain Roesley Classified gene: COMP as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.29 COMP Ain Roesley Gene: comp has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.28 COMP Ain Roesley gene: COMP was added
gene: COMP was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COMP were set to 20508815; 14684695; 15880723
Phenotypes for gene: COMP were set to Epiphyseal dysplasia, multiple, 1 MIM#132400
Review for gene: COMP was set to AMBER
gene: COMP was marked as current diagnostic
Added comment: Not a common feature of MED.
Amber so as not to miss a diagnosis

PMID: 14684695
2 families only 1 with mild myopathy
Fam1: 1 father + 3 sibs, only 1 reported muscle weakness
Fam2: no muscle weakness reported

PMID: 15880723
10 families but only 1 reported mild myopathy

PMID: 20508815
additional 2 unrelated individuals from European Skeletal Dysplasia Network
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.27 COL9A2 Ain Roesley Marked gene: COL9A2 as ready
Muscular dystrophy and myopathy_Paediatric v1.27 COL9A2 Ain Roesley Gene: col9a2 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.27 COL9A2 Ain Roesley Classified gene: COL9A2 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.27 COL9A2 Ain Roesley Gene: col9a2 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.26 COL9A2 Ain Roesley gene: COL9A2 was added
gene: COL9A2 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: COL9A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL9A2 were set to 20508815; 20358595
Phenotypes for gene: COL9A2 were set to Epiphyseal dysplasia, multiple, 2 MIM#600204
Review for gene: COL9A2 was set to AMBER
gene: COL9A2 was marked as current diagnostic
Added comment: not a common feature. only 1 paper found in pubmed and google (search terms COL9A2 AND myopathy)
Amber so as not to miss a diagnosis

PMID: 20358595
2 families with multiple affecteds but only 1 from each reporting muscle weakness

PMID: 20508815
additional individual from European Skeletal Dysplasia Network
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.25 COL9A3 Ain Roesley Marked gene: COL9A3 as ready
Muscular dystrophy and myopathy_Paediatric v1.25 COL9A3 Ain Roesley Gene: col9a3 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.25 COL9A3 Ain Roesley Classified gene: COL9A3 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.25 COL9A3 Ain Roesley Gene: col9a3 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.24 COL9A3 Ain Roesley gene: COL9A3 was added
gene: COL9A3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL9A3 were set to 10655510
Phenotypes for gene: COL9A3 were set to Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969
Review for gene: COL9A3 was set to AMBER
gene: COL9A3 was marked as current diagnostic
Added comment: Not a common feature of MED, only one paper found in pubmed (search terms COL9A3 AND myopathy).
Amber so as not to miss a diagnosis

PMID: 10655510
1x male with proximal muscle weakness
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.23 FILIP1 Zornitza Stark Marked gene: FILIP1 as ready
Muscular dystrophy and myopathy_Paediatric v1.23 FILIP1 Zornitza Stark Gene: filip1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.23 FILIP1 Zornitza Stark Classified gene: FILIP1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.23 FILIP1 Zornitza Stark Gene: filip1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.22 FILIP1 Zornitza Stark gene: FILIP1 was added
gene: FILIP1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FILIP1 were set to 36943452; 37163662
Phenotypes for gene: FILIP1 were set to Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775
Review for gene: FILIP1 was set to GREEN
Added comment: Congenital neuromuscular disorder with dysmorphic facies (NMDF) is an autosomal recessive disorder characterized by impaired skeletal muscle development, usually resulting in hypotonia and secondary joint contractures, and dysmorphic facial features. Features are apparent from birth. Affected individuals may show motor delay, speech delay, and impaired intellectual development.

Seven families reported.
Sources: Expert Review
Muscular dystrophy and myopathy_Paediatric v1.21 SLC4A10 Zornitza Stark Phenotypes for gene: SLC4A10 were changed from Neurodevelopmental disorderMONDO:0700092, SLC4A10-related to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746
Muscular dystrophy and myopathy_Paediatric v1.20 SLC4A10 Zornitza Stark reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.20 SNUPN Zornitza Stark Phenotypes for gene: SNUPN were changed from autosomal recessive limb-girdle muscular dystrophy MONDO:0015152 to autosomal recessive limb-girdle muscular dystrophy MONDO:0015152, SNUPN-related
Muscular dystrophy and myopathy_Paediatric v1.19 CIAO1 Zornitza Stark Phenotypes for gene: CIAO1 were changed from Neuromuscular disease, CIAO1-related (MONDO:0019056) to Neurodegenerative disease, MONDO:0005559, CIAO1-related
Muscular dystrophy and myopathy_Paediatric v1.18 CIAO1 Zornitza Stark Phenotypes for gene: CIAO1 were changed from Neurodegenerative disease, MONDO:0005559, CIAO1-related to Neuromuscular disease, CIAO1-related (MONDO:0019056)
Muscular dystrophy and myopathy_Paediatric v1.17 CIAO1 Zornitza Stark Marked gene: CIAO1 as ready
Muscular dystrophy and myopathy_Paediatric v1.17 CIAO1 Zornitza Stark Gene: ciao1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.17 CIAO1 Zornitza Stark Phenotypes for gene: CIAO1 were changed from Neuromuscular disease, CIAO1-related (MONDO:0019056) to Neurodegenerative disease, MONDO:0005559, CIAO1-related
Muscular dystrophy and myopathy_Paediatric v1.16 CIAO1 Zornitza Stark Classified gene: CIAO1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.16 CIAO1 Zornitza Stark Gene: ciao1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.15 MMS19 Zornitza Stark Classified gene: MMS19 as Red List (low evidence)
Muscular dystrophy and myopathy_Paediatric v1.15 MMS19 Zornitza Stark Gene: mms19 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v1.14 MMS19 Zornitza Stark Marked gene: MMS19 as ready
Muscular dystrophy and myopathy_Paediatric v1.14 MMS19 Zornitza Stark Gene: mms19 has been removed from the panel.
Muscular dystrophy and myopathy_Paediatric v1.14 MMS19 Zornitza Stark Phenotypes for gene: MMS19 were changed from Neuromuscular disease, MMS19-related (MONDO:0019056) to Neurodegenerative disease, MONDO:0005559, MMS19-related
Muscular dystrophy and myopathy_Paediatric v1.13 MMS19 Paul De Fazio gene: MMS19 was added
gene: MMS19 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MMS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMS19 were set to 38411040
Phenotypes for gene: MMS19 were set to Neuromuscular disease, MMS19-related (MONDO:0019056)
Review for gene: MMS19 was set to RED
gene: MMS19 was marked as current diagnostic
Added comment: Single patient reported with postnatal microcephaly, bilateral cataracts, failure to thrive, progressive spastic tetraparesis, scoliosis, myoclonic epilepsy and precocious puberty. Cerebral MRI at age 4 years showed pontocerebellar atrophy and white matter abnormalities. Patient died age 13 after recurrent respiratory tract infections. A homozygous in-frame deletion p.(Glu213del) was identified. Cell line studies supported pathogenicity of the variant. A zebrafish knockout model showed Mms19 deficiency had detrimental effects on development.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.13 CIAO1 Paul De Fazio gene: CIAO1 was added
gene: CIAO1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIAO1 were set to 38411040; 38196629
Phenotypes for gene: CIAO1 were set to Neuromuscular disease, CIAO1-related (MONDO:0019056)
Penetrance for gene: CIAO1 were set to unknown
Review for gene: CIAO1 was set to GREEN
gene: CIAO1 was marked as current diagnostic
Added comment: PMID:38196629 (note pre-print) describes 4 unrelated patients with core features of progressive muscle weakness, respiratory insufficiency, joint hyperlaxity, ankle tightness, calf pseudohypertrophy, elevated CK, and larning disabilities/difficulties. 2 patients presented with increased iron deposition in the brain. Age of recognition of myopathic symptoms varied from early childhood to adolescence. Muscle biopsy showed variation in fiber size and an increase in internalized nuclei, as well as scattered degenerating/regenerating fibers and a mild to minimal increase in endomysial fibrosis. Electron microscopy revealed morphologically abnormal mitochondria.

PMID: 38411040 reports 2 unrelated patients. Patient 1 was born with microcephaly and borderline hypertonia, and died at 18 months of respiratory failure from bronchiolitis. Patient 2 presented with failure to thrive, a hyperkinetic movement disorder, and autism before deteriorating in late teens with muscle weakness, recurrent pneuomonia with respiratory insufficiency, and eventually death due to multi-organ failure with carnificating pneumonia, septic cardiomyopathy, and intracranial hemorrhages. Immune deficiency was ruled out.

All variants reported were homozygous or compound heterozygous missense variants, with the exception of one large in-frame deletion of exon 7. Cell line studies showed the variants resulted in reduced protein stability and downstream cellular defects which could be rescued by wild-type CIAO1.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.13 SNUPN Seb Lunke Marked gene: SNUPN as ready
Muscular dystrophy and myopathy_Paediatric v1.13 SNUPN Seb Lunke Gene: snupn has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.13 SNUPN Seb Lunke Classified gene: SNUPN as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.13 SNUPN Seb Lunke Gene: snupn has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.12 TUBA4A Seb Lunke Classified gene: TUBA4A as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.12 TUBA4A Seb Lunke Gene: tuba4a has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.12 TUBA4A Seb Lunke Marked gene: TUBA4A as ready
Muscular dystrophy and myopathy_Paediatric v1.12 TUBA4A Seb Lunke Gene: tuba4a has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.12 TUBA4A Seb Lunke Classified gene: TUBA4A as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.12 TUBA4A Seb Lunke Gene: tuba4a has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.11 SNUPN Suliman Khan gene: SNUPN was added
gene: SNUPN was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNUPN were set to PMID: 38413582; PMID: 38366623
Phenotypes for gene: SNUPN were set to autosomal recessive limb-girdle muscular dystrophy MONDO:0015152
Penetrance for gene: SNUPN were set to unknown
Added comment: PMID: 38413582: reported 18 children from 15 unrelated families with muscular phenotypes, including proximal upper limb weakness, distal upper and lower limb weakness, and myopathy (EMG) with elevated serum creatinine kinase level. Exome sequencing revealed nine hypomorphic biallelic variants in the SNUPN gene, predominantly clustered in the last coding exon. Functional studies showed that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients’ primary fibroblasts.

PMID: 38366623: reported five individuals from two unrelated families with limb-girdle muscular dystrophy.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.11 TUBA4A Sarah Pantaleo gene: TUBA4A was added
gene: TUBA4A was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA4A were set to PMID: 38413182
Phenotypes for gene: TUBA4A were set to Congenital myopathy MONDO:0019952
Review for gene: TUBA4A was set to AMBER
Added comment: One novel TUBA4A variant in two unrelated Chinese patients with sporadic congenital myopathy.

Identified candidate genes using laser capture micro dissection, proteomics, WES, clinical data, myopathological changes, electrophysiological exams and thigh muscle MRIs.

The variant is de novo in both patients, c.679C>T, p.(Leu227Phe). The prominent myopathological changes in both patients were muscle fibres with focal myofibrillar disorganisation and rimmed vacuoles. Immunofluorescence showed ubiqution-positive TUBA4A protein aggregates in the muscle fibres with rimmed vacuoles. Overexpression of Leu227Phe resulted in cytoplasmic aggregates which colocalised with ubiquitin in cellular model.

Patient 1 is 14yo and had delayed motor development milestones since infancy. Myopathic face, high-arched palate, waddling gait, winged scapula and muscle weakness in four limbs with lower extremities and proximal muscle more severely affected. Follow up at 14yo showed slight improvement in motor function compared with 3yo.

Patient 2 is 6yo and presented with motor retardation since birth. At 3yo, presented with mild ptosis and ophthalmoparesis, high-arched palate and muscle weakness involving both proximal and distal in all limbs.

No likely pathogenic variants in 116 other protein-encoding genes. Variants confirmed by Sanger sequencing and absent from gnomAD. ACMG predicts likely pathogenic classification.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.11 BET1 Zornitza Stark Phenotypes for gene: BET1 were changed from Muscular dystrophy; Epilepsy to Muscular dystrophy, congenital, with rapid progression, MIM# 254100
Muscular dystrophy and myopathy_Paediatric v1.10 BET1 Zornitza Stark edited their review of gene: BET1: Changed phenotypes: Muscular dystrophy, congenital, with rapid progression, MIM# 254100
Muscular dystrophy and myopathy_Paediatric v1.10 ASCC3 Zornitza Stark Phenotypes for gene: ASCC3 were changed from Congenital Myopathy (MONDO:0019952); Neuromuscular Symptoms to Intellectual developmental disorder, autosomal recessive 81, MIM# 620700
Muscular dystrophy and myopathy_Paediatric v1.9 ASCC3 Zornitza Stark Publications for gene: ASCC3 were set to 35047834
Muscular dystrophy and myopathy_Paediatric v1.8 ASCC3 Zornitza Stark reviewed gene: ASCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35047834; Phenotypes: Intellectual developmental disorder, autosomal recessive 81, MIM# 620700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.8 SOX8 Zornitza Stark Marked gene: SOX8 as ready
Muscular dystrophy and myopathy_Paediatric v1.8 SOX8 Zornitza Stark Gene: sox8 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v1.8 SOX8 Zornitza Stark Classified gene: SOX8 as Red List (low evidence)
Muscular dystrophy and myopathy_Paediatric v1.8 SOX8 Zornitza Stark Gene: sox8 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v1.7 SOX8 Paul De Fazio gene: SOX8 was added
gene: SOX8 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SOX8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SOX8 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200088
Phenotypes for gene: SOX8 were set to Neurodevelopmental disorder (MONDO:0700092), SOX8-related
Review for gene: SOX8 was set to RED
gene: SOX8 was marked as current diagnostic
Added comment: Proband presented to genetics clinic at 27 years of age with BMI -3.4SD, height -2.7SD, head circumference -1.8SD. She had mild intellectual delay and clinical features of a congenital, nonprogressive myopathy with moderate proximal and distal weakness. X-rays showed skeletal dysplasia, including cervical thoracic scoliosis and lumbar scoliosis. She was reported as having had weakness at birth with poor suck, micrognathia, hypotonia, and talipes. She was documented to have significant motor delay as a child. MRI of the brain demonstrated large posterior fossa CSF spaces.

Muscle biopsy of the right medial gastrocnemius at age 1 demonstrated mild variation in fiber size with scattered, moderately small, rounded polyhedral fibers of both types. There were no significant dystrophic features.

Biallelic SOX8 variants biallelic (NM_014587.3:c.422+5G>C; c.583dup p.(His195ProfsTer11)) were identified by WGS. The +5 variant was shown to affect splicing, while the frameshift variant resulted in production of low-level truncated protein (not NMD predicted). Functional studies on patient fibroblasts showed misregulation of downstream SOX8 targets.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.7 DHX16 Seb Lunke Publications for gene: DHX16 were set to 36211162
Muscular dystrophy and myopathy_Paediatric v1.6 DHX16 Seb Lunke Classified gene: DHX16 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.6 DHX16 Seb Lunke Gene: dhx16 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.5 DHX16 Belinda Chong reviewed gene: DHX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 37664979, 37574199; Phenotypes: Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733, MONDO:0032890); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Muscular dystrophy and myopathy_Paediatric v1.5 CAPN3 Zornitza Stark changed review comment from: More appropriate for LGMD panel.; to: More appropriate for LGMD panel but rate Amber here to avoid missing diagnoses.
Muscular dystrophy and myopathy_Paediatric v1.5 CAPN3 Zornitza Stark edited their review of gene: CAPN3: Changed rating: AMBER
Muscular dystrophy and myopathy_Paediatric v1.5 CAPN3 Zornitza Stark Classified gene: CAPN3 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.5 CAPN3 Zornitza Stark Gene: capn3 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.4 MAMDC2 Elena Savva Classified gene: MAMDC2 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.4 MAMDC2 Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.3 MAMDC2 Elena Savva Classified gene: MAMDC2 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.3 MAMDC2 Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.3 MAMDC2 Elena Savva Classified gene: MAMDC2 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.3 MAMDC2 Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v1.2 MAMDC2 Elena Savva Marked gene: MAMDC2 as ready
Muscular dystrophy and myopathy_Paediatric v1.2 MAMDC2 Elena Savva Gene: mamdc2 has been removed from the panel.
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.2 MAMDC2 Belinda Chong gene: MAMDC2 was added
gene: MAMDC2 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MAMDC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAMDC2 were set to 37503746
Phenotypes for gene: MAMDC2 were set to Muscular Dystrophy MONDO:0020121, MAMDC2-related
Review for gene: MAMDC2 was set to AMBER
Added comment: 17 individuals with an autosomal dominant muscular dystrophy belonging to two unrelated families in which different heterozygous truncating variants in the last exon of MAMDC2 co-segregate correctly with the disease.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.1 SLC4A10 Krithika Murali Marked gene: SLC4A10 as ready
Muscular dystrophy and myopathy_Paediatric v1.1 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v1.1 SLC4A10 Krithika Murali gene: SLC4A10 was added
gene: SLC4A10 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to PMID: 37459438
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related
Review for gene: SLC4A10 was set to GREEN
Added comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.

Phenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.

Isolated seizures was reported in 2/10 cases.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.0 Bryony Thompson promoted panel to version 1.0
Muscular dystrophy and myopathy_Paediatric v0.202 Bryony Thompson Panel name changed from Muscular dystrophy_Paediatric to Muscular dystrophy and myopathy_Paediatric
HPO terms changed from Muscular dystrophy, HP:0003560; Elevated circulating creatine kinase concentration, HP:0003236 to Muscular dystrophy, HP:0003560; Elevated circulating creatine kinase concentration, HP:0003236; Myopathy, HP:0003198
List of related panels changed from Muscular dystrophy; HP:0003560; Elevated circulating creatine kinase concentration; HP:0003236 to Muscular dystrophy; HP:0003560; Elevated circulating creatine kinase concentration; HP:0003236; Myopathy; HP:0003198
Muscular dystrophy and myopathy_Paediatric v0.200 TRDN Bryony Thompson Marked gene: TRDN as ready
Muscular dystrophy and myopathy_Paediatric v0.200 TRDN Bryony Thompson Gene: trdn has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.200 TRDN Bryony Thompson Classified gene: TRDN as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.200 TRDN Bryony Thompson Added comment: Comment on list classification: Congenital myopathy can be a feature of the condition
Muscular dystrophy and myopathy_Paediatric v0.200 TRDN Bryony Thompson Gene: trdn has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.199 TRDN Bryony Thompson gene: TRDN was added
gene: TRDN was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRDN were set to 28202702; 30649896; 34415104
Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441
Muscular dystrophy and myopathy_Paediatric v0.198 TNNT3 Bryony Thompson Marked gene: TNNT3 as ready
Muscular dystrophy and myopathy_Paediatric v0.198 TNNT3 Bryony Thompson Gene: tnnt3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.198 TNNT3 Bryony Thompson Classified gene: TNNT3 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.198 TNNT3 Bryony Thompson Gene: tnnt3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.197 TNNT3 Bryony Thompson gene: TNNT3 was added
gene: TNNT3 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: TNNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNNT3 were set to 33977145; 29266598; 23775847
Phenotypes for gene: TNNT3 were set to Nemaline myopathy MONDO:0018958
Review for gene: TNNT3 was set to GREEN
Added comment: 2 unrelated families with nemaline myopathy and splice variants. Also, a supporting mouse model.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.196 TNNT1 Bryony Thompson Marked gene: TNNT1 as ready
Muscular dystrophy and myopathy_Paediatric v0.196 TNNT1 Bryony Thompson Gene: tnnt1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.196 TNNT1 Bryony Thompson Classified gene: TNNT1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.196 TNNT1 Bryony Thompson Added comment: Comment on list classification: Biallelic Nemaline myopathy is classified as definitive by ClinGen Congenital Myopathies VCEP (reviewed 07/05/2020) with a LoF mechanism of disease, whereas monoallelic Nemaline myopathy is classified as limited (reviewed 22/06/2020) with an expected GoF mechanism of disease.
Muscular dystrophy and myopathy_Paediatric v0.196 TNNT1 Bryony Thompson Gene: tnnt1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.195 TNNT1 Bryony Thompson gene: TNNT1 was added
gene: TNNT1 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: TNNT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TNNT1 were set to 10952871; 32994279; 32819427; 31970803; 31604653; 29931346; 29178646
Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5 MONDO:0011539; Nemaline myopathy MONDO:0018958
Muscular dystrophy and myopathy_Paediatric v0.194 PYROXD1 Bryony Thompson Marked gene: PYROXD1 as ready
Muscular dystrophy and myopathy_Paediatric v0.194 PYROXD1 Bryony Thompson Gene: pyroxd1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.194 PYROXD1 Bryony Thompson Classified gene: PYROXD1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.194 PYROXD1 Bryony Thompson Added comment: Comment on list classification: Definitive gene-disease validity classification by ClinGen Congenital Myopathy VCEP - reviewed 05/11/2019
Muscular dystrophy and myopathy_Paediatric v0.194 PYROXD1 Bryony Thompson Gene: pyroxd1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.193 PYROXD1 Bryony Thompson gene: PYROXD1 was added
gene: PYROXD1 was added to Muscular dystrophy_Paediatric. Sources: Expert list
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to 30345904; 30515627; 27745833
Phenotypes for gene: PYROXD1 were set to Myofibrillar myopathy 8 MONDO:0014993
gene: PYROXD1 was marked as current diagnostic
Muscular dystrophy and myopathy_Paediatric v0.192 MYO18B Bryony Thompson Marked gene: MYO18B as ready
Muscular dystrophy and myopathy_Paediatric v0.192 MYO18B Bryony Thompson Gene: myo18b has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.192 MYO18B Bryony Thompson Classified gene: MYO18B as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.192 MYO18B Bryony Thompson Added comment: Comment on list classification: Moderate gene-disease validity classified by ClinGen Congenital Myopathy VCEP - reviewed 28/06/2021
Muscular dystrophy and myopathy_Paediatric v0.192 MYO18B Bryony Thompson Gene: myo18b has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.191 MYO18B Bryony Thompson gene: MYO18B was added
gene: MYO18B was added to Muscular dystrophy_Paediatric. Sources: Expert list
Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO18B were set to 25748484; 27858739; 32637634; 32184166; 27879346
Phenotypes for gene: MYO18B were set to Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014689
Muscular dystrophy and myopathy_Paediatric v0.190 MYMX Bryony Thompson Marked gene: MYMX as ready
Muscular dystrophy and myopathy_Paediatric v0.190 MYMX Bryony Thompson Gene: mymx has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.190 MYMX Bryony Thompson Classified gene: MYMX as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.190 MYMX Bryony Thompson Gene: mymx has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.189 MYMX Bryony Thompson gene: MYMX was added
gene: MYMX was added to Muscular dystrophy_Paediatric. Sources: Literature
Mode of inheritance for gene: MYMX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYMX were set to 35642635
Phenotypes for gene: MYMX were set to Carey-Fineman-Ziter syndrome MONDO:0009700
Review for gene: MYMX was set to AMBER
Added comment: Single family, two siblings with weakness of the facial musculature, hypomimic face, increased overbite, micrognathia, and facial dysmorphism with homozygous p.Arg46*. The phenotype resembles CFZ syndrome. The variant prevents fusion of myoblasts from patient-derived iPSCs. Mouse model recapitulates a lethal CFZS-like phenotype.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.188 MYMK Bryony Thompson Classified gene: MYMK as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.188 MYMK Bryony Thompson Gene: mymk has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.187 MYMK Bryony Thompson Classified gene: MYMK as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.187 MYMK Bryony Thompson Gene: mymk has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.186 MYMK Bryony Thompson Marked gene: MYMK as ready
Muscular dystrophy and myopathy_Paediatric v0.186 MYMK Bryony Thompson Gene: mymk has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.186 MYMK Bryony Thompson gene: MYMK was added
gene: MYMK was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYMK were set to 32333597; 30065953
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome MONDO:0009700
Review for gene: MYMK was set to GREEN
gene: MYMK was marked as current diagnostic
Added comment: Carey-Fineman-Ziter syndrome is considered a congenital myopathy
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.185 MYH2 Bryony Thompson Marked gene: MYH2 as ready
Muscular dystrophy and myopathy_Paediatric v0.185 MYH2 Bryony Thompson Gene: myh2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.185 MYH2 Bryony Thompson Classified gene: MYH2 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.185 MYH2 Bryony Thompson Added comment: Comment on list classification: Definitive gene-disease validity by the ClinGen Congenital Myopathy VCEP - reviewed 09/03/2020
Muscular dystrophy and myopathy_Paediatric v0.185 MYH2 Bryony Thompson Gene: myh2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.184 MYH2 Bryony Thompson gene: MYH2 was added
gene: MYH2 was added to Muscular dystrophy_Paediatric. Sources: Expert list
Mode of inheritance for gene: MYH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MYH2 were set to 20418530; 15548556; 24193343; 11114175; 23489661; 32578970; 29934118; 28729039; 27490141; 27177998
Phenotypes for gene: MYH2 were set to Myopathy, proximal, and ophthalmoplegia MONDO:0011577
gene: MYH2 was marked as current diagnostic
Muscular dystrophy and myopathy_Paediatric v0.183 MEGF10 Bryony Thompson Marked gene: MEGF10 as ready
Muscular dystrophy and myopathy_Paediatric v0.183 MEGF10 Bryony Thompson Gene: megf10 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.183 MEGF10 Bryony Thompson Classified gene: MEGF10 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.183 MEGF10 Bryony Thompson Gene: megf10 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.182 MEGF10 Bryony Thompson gene: MEGF10 was added
gene: MEGF10 was added to Muscular dystrophy_Paediatric. Sources: Expert list
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEGF10 were set to 22101682; 22371254; 23453856; 27460346
Phenotypes for gene: MEGF10 were set to MEGF10-Related Myopathy MONDO:0013731
gene: MEGF10 was marked as current diagnostic
Added comment: Assigned a definitive gene-disease validity classification by the ClinGen congenital myopathy GCEP - 27/1/2020
Sources: Expert list
Muscular dystrophy and myopathy_Paediatric v0.181 FKTN Bryony Thompson Marked gene: FKTN as ready
Muscular dystrophy and myopathy_Paediatric v0.181 FKTN Bryony Thompson Gene: fktn has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.181 FKTN Bryony Thompson Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy MONDO:0018276
Muscular dystrophy and myopathy_Paediatric v0.180 FKTN Bryony Thompson Publications for gene: FKTN were set to
Muscular dystrophy and myopathy_Paediatric v0.179 FKTN Bryony Thompson Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.178 FKBP14 Bryony Thompson Marked gene: FKBP14 as ready
Muscular dystrophy and myopathy_Paediatric v0.178 FKBP14 Bryony Thompson Gene: fkbp14 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.178 FKBP14 Bryony Thompson Classified gene: FKBP14 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.178 FKBP14 Bryony Thompson Gene: fkbp14 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.177 FKBP14 Bryony Thompson gene: FKBP14 was added
gene: FKBP14 was added to Muscular dystrophy_Paediatric. Sources: Literature
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKBP14 were set to 31132235
Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800
Review for gene: FKBP14 was set to GREEN
gene: FKBP14 was marked as current diagnostic
Added comment: Affected individuals typically present at birth with congenital hypotonia and weakness.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.176 FAM111B Bryony Thompson Marked gene: FAM111B as ready
Muscular dystrophy and myopathy_Paediatric v0.176 FAM111B Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.176 FAM111B Bryony Thompson Classified gene: FAM111B as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.176 FAM111B Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.175 FAM111B Bryony Thompson gene: FAM111B was added
gene: FAM111B was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM111B were set to 27748098
Phenotypes for gene: FAM111B were set to Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Mode of pathogenicity for gene: FAM111B was set to Other
Review for gene: FAM111B was set to GREEN
Added comment: Muscle contractures are usually seen in childhood. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs, beginning with the proximal muscles. Serum creatine kinase is either normal or slightly increased and electromyography may show a normal or myopathic pattern. The mechanism of disease is unknown, but based on the spectrum of pathogenic variants it is expected to be dominant-negative.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.174 MYL1 Sangavi Sivagnanasundram edited their review of gene: MYL1: Changed publications: 30215711
Muscular dystrophy and myopathy_Paediatric v0.174 TRIP4 Bryony Thompson Marked gene: TRIP4 as ready
Muscular dystrophy and myopathy_Paediatric v0.174 TRIP4 Bryony Thompson Gene: trip4 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.174 TRIP4 Bryony Thompson Classified gene: TRIP4 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.174 TRIP4 Bryony Thompson Gene: trip4 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.173 TPM3 Bryony Thompson Marked gene: TPM3 as ready
Muscular dystrophy and myopathy_Paediatric v0.173 TPM3 Bryony Thompson Gene: tpm3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.173 TPM3 Bryony Thompson Classified gene: TPM3 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.173 TPM3 Bryony Thompson Gene: tpm3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.172 TPM2 Bryony Thompson Marked gene: TPM2 as ready
Muscular dystrophy and myopathy_Paediatric v0.172 TPM2 Bryony Thompson Gene: tpm2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.172 TPM2 Bryony Thompson Classified gene: TPM2 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.172 TPM2 Bryony Thompson Gene: tpm2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.171 TNNC2 Bryony Thompson Marked gene: TNNC2 as ready
Muscular dystrophy and myopathy_Paediatric v0.171 TNNC2 Bryony Thompson Gene: tnnc2 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.171 TNNC2 Bryony Thompson Classified gene: TNNC2 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.171 TNNC2 Bryony Thompson Gene: tnnc2 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.170 STAC3 Bryony Thompson Marked gene: STAC3 as ready
Muscular dystrophy and myopathy_Paediatric v0.170 STAC3 Bryony Thompson Gene: stac3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.170 STAC3 Bryony Thompson Classified gene: STAC3 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.170 STAC3 Bryony Thompson Gene: stac3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.169 SPEG Bryony Thompson Marked gene: SPEG as ready
Muscular dystrophy and myopathy_Paediatric v0.169 SPEG Bryony Thompson Gene: speg has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.169 SPEG Bryony Thompson Classified gene: SPEG as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.169 SPEG Bryony Thompson Gene: speg has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.168 PAX7 Bryony Thompson Marked gene: PAX7 as ready
Muscular dystrophy and myopathy_Paediatric v0.168 PAX7 Bryony Thompson Gene: pax7 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.168 PAX7 Bryony Thompson Classified gene: PAX7 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.168 PAX7 Bryony Thompson Gene: pax7 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.167 NEB Bryony Thompson Marked gene: NEB as ready
Muscular dystrophy and myopathy_Paediatric v0.167 NEB Bryony Thompson Gene: neb has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.167 NEB Bryony Thompson Classified gene: NEB as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.167 NEB Bryony Thompson Gene: neb has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.166 MYPN Bryony Thompson Marked gene: MYPN as ready
Muscular dystrophy and myopathy_Paediatric v0.166 MYPN Bryony Thompson Gene: mypn has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.166 MYPN Bryony Thompson Classified gene: MYPN as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.166 MYPN Bryony Thompson Gene: mypn has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.165 MYOD1 Bryony Thompson Marked gene: MYOD1 as ready
Muscular dystrophy and myopathy_Paediatric v0.165 MYOD1 Bryony Thompson Gene: myod1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.165 MYOD1 Bryony Thompson Classified gene: MYOD1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.165 MYOD1 Bryony Thompson Gene: myod1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.164 MYL1 Bryony Thompson Marked gene: MYL1 as ready
Muscular dystrophy and myopathy_Paediatric v0.164 MYL1 Bryony Thompson Gene: myl1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.164 MYL1 Bryony Thompson Classified gene: MYL1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.164 MYL1 Bryony Thompson Gene: myl1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.163 MYL1 Bryony Thompson Publications for gene: MYL1 were set to 30275711
Muscular dystrophy and myopathy_Paediatric v0.162 MYBPC1 Bryony Thompson Marked gene: MYBPC1 as ready
Muscular dystrophy and myopathy_Paediatric v0.162 MYBPC1 Bryony Thompson Gene: mybpc1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.162 MYBPC1 Bryony Thompson Classified gene: MYBPC1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.162 MYBPC1 Bryony Thompson Gene: mybpc1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.161 MTMR14 Bryony Thompson Marked gene: MTMR14 as ready
Muscular dystrophy and myopathy_Paediatric v0.161 MTMR14 Bryony Thompson Gene: mtmr14 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.161 MTMR14 Bryony Thompson Classified gene: MTMR14 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.161 MTMR14 Bryony Thompson Gene: mtmr14 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.160 MAP3K20 Bryony Thompson Marked gene: MAP3K20 as ready
Muscular dystrophy and myopathy_Paediatric v0.160 MAP3K20 Bryony Thompson Gene: map3k20 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.160 MAP3K20 Bryony Thompson Classified gene: MAP3K20 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.160 MAP3K20 Bryony Thompson Gene: map3k20 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.159 LMOD3 Bryony Thompson Marked gene: LMOD3 as ready
Muscular dystrophy and myopathy_Paediatric v0.159 LMOD3 Bryony Thompson Gene: lmod3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.159 LMOD3 Bryony Thompson Classified gene: LMOD3 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.159 LMOD3 Bryony Thompson Gene: lmod3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.158 KLHL41 Bryony Thompson Marked gene: KLHL41 as ready
Muscular dystrophy and myopathy_Paediatric v0.158 KLHL41 Bryony Thompson Gene: klhl41 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.158 KLHL41 Bryony Thompson Classified gene: KLHL41 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.158 KLHL41 Bryony Thompson Gene: klhl41 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.157 KLHL40 Bryony Thompson Marked gene: KLHL40 as ready
Muscular dystrophy and myopathy_Paediatric v0.157 KLHL40 Bryony Thompson Gene: klhl40 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.157 KLHL40 Bryony Thompson Classified gene: KLHL40 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.157 KLHL40 Bryony Thompson Gene: klhl40 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.156 KBTBD13 Bryony Thompson Marked gene: KBTBD13 as ready
Muscular dystrophy and myopathy_Paediatric v0.156 KBTBD13 Bryony Thompson Gene: kbtbd13 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.156 KBTBD13 Bryony Thompson Classified gene: KBTBD13 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.156 KBTBD13 Bryony Thompson Gene: kbtbd13 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.155 HRAS Bryony Thompson Marked gene: HRAS as ready
Muscular dystrophy and myopathy_Paediatric v0.155 HRAS Bryony Thompson Gene: hras has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.155 HRAS Bryony Thompson Classified gene: HRAS as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.155 HRAS Bryony Thompson Gene: hras has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.154 EPG5 Sangavi Sivagnanasundram edited their review of gene: EPG5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.154 HACD1 Bryony Thompson Marked gene: HACD1 as ready
Muscular dystrophy and myopathy_Paediatric v0.154 HACD1 Bryony Thompson Gene: hacd1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.154 HACD1 Bryony Thompson Classified gene: HACD1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.154 HACD1 Bryony Thompson Gene: hacd1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.153 FXR1 Bryony Thompson Marked gene: FXR1 as ready
Muscular dystrophy and myopathy_Paediatric v0.153 FXR1 Bryony Thompson Gene: fxr1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.153 FXR1 Bryony Thompson Classified gene: FXR1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.153 FXR1 Bryony Thompson Gene: fxr1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.152 EPG5 Bryony Thompson Marked gene: EPG5 as ready
Muscular dystrophy and myopathy_Paediatric v0.152 EPG5 Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.152 EPG5 Bryony Thompson Classified gene: EPG5 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.152 EPG5 Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.151 EPG5 Bryony Thompson Mode of inheritance for gene: EPG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.150 DYNC1H1 Bryony Thompson Marked gene: DYNC1H1 as ready
Muscular dystrophy and myopathy_Paediatric v0.150 DYNC1H1 Bryony Thompson Gene: dync1h1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.150 DYNC1H1 Bryony Thompson Classified gene: DYNC1H1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.150 DYNC1H1 Bryony Thompson Gene: dync1h1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.149 DNM2 Bryony Thompson Marked gene: DNM2 as ready
Muscular dystrophy and myopathy_Paediatric v0.149 DNM2 Bryony Thompson Gene: dnm2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.149 DNM2 Bryony Thompson Classified gene: DNM2 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.149 DNM2 Bryony Thompson Gene: dnm2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.148 DHX16 Bryony Thompson Marked gene: DHX16 as ready
Muscular dystrophy and myopathy_Paediatric v0.148 DHX16 Bryony Thompson Gene: dhx16 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.148 DHX16 Bryony Thompson Classified gene: DHX16 as Red List (low evidence)
Muscular dystrophy and myopathy_Paediatric v0.148 DHX16 Bryony Thompson Gene: dhx16 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.147 CNTN1 Bryony Thompson Marked gene: CNTN1 as ready
Muscular dystrophy and myopathy_Paediatric v0.147 CNTN1 Bryony Thompson Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.147 CNTN1 Bryony Thompson Classified gene: CNTN1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.147 CNTN1 Bryony Thompson Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.146 RYR1 Bryony Thompson Classified gene: RYR1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.146 RYR1 Bryony Thompson Gene: ryr1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.145 RYR1 Bryony Thompson edited their review of gene: RYR1: Added comment: Congenital myopathy is reported in both dominant and recessive forms. Loss of function is the disease mechanism for recessive RYR1-related myopathy, whereas gain-of-function is typically the mechanism for dominant disease.; Changed publications: 22473935, 30611313, 8220422, 12112081; Changed phenotypes: RYR1-related myopathy MONDO:0100150; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.145 CHST14 Bryony Thompson Marked gene: CHST14 as ready
Muscular dystrophy and myopathy_Paediatric v0.145 CHST14 Bryony Thompson Gene: chst14 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.145 CHST14 Bryony Thompson Classified gene: CHST14 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.145 CHST14 Bryony Thompson Gene: chst14 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.144 CHST14 Bryony Thompson gene: CHST14 was added
gene: CHST14 was added to Muscular dystrophy_Paediatric. Sources: Expert list
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST14 were set to 26373698; 20842734; 36833362
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776
Review for gene: CHST14 was set to GREEN
gene: CHST14 was marked as current diagnostic
Added comment: Well-established gene-disease association. MC-EDS represents a differential diagnosis within the congenital myopathy spectrum of disease. Myopathy also present in the null mouse model.
Sources: Expert list
Muscular dystrophy and myopathy_Paediatric v0.143 CACNA1S Bryony Thompson Marked gene: CACNA1S as ready
Muscular dystrophy and myopathy_Paediatric v0.143 CACNA1S Bryony Thompson Gene: cacna1s has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.143 CACNA1S Bryony Thompson Classified gene: CACNA1S as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.143 CACNA1S Bryony Thompson Gene: cacna1s has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.142 CACNA1S Bryony Thompson gene: CACNA1S was added
gene: CACNA1S was added to Muscular dystrophy_Paediatric. Sources: Expert list
Mode of inheritance for gene: CACNA1S was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CACNA1S were set to 28012042; 31227654; 33060286
Phenotypes for gene: CACNA1S were set to Congenital myopathy MONDO:0019952
Review for gene: CACNA1S was set to GREEN
gene: CACNA1S was marked as current diagnostic
Added comment: At least 5 families with biallelic variants and 3 families with monoallelic missense variants (mainly de novo) with congenital myopathy. A decrease in protein level and a major impairment of Ca2+ release induced by depolarization in cultured myotubes was identified in both the dominant and recessive families. Thus, loss of function is the mechanism of disease for CACNA1S-related congenital myopathy.
Sources: Expert list
Muscular dystrophy and myopathy_Paediatric v0.141 CFL2 Bryony Thompson Marked gene: CFL2 as ready
Muscular dystrophy and myopathy_Paediatric v0.141 CFL2 Bryony Thompson Gene: cfl2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.141 CFL2 Bryony Thompson Classified gene: CFL2 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.141 CFL2 Bryony Thompson Gene: cfl2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.140 CFL2 Bryony Thompson Publications for gene: CFL2 were set to PMID: 17160903; 22560515
Muscular dystrophy and myopathy_Paediatric v0.139 CCDC78 Bryony Thompson Marked gene: CCDC78 as ready
Muscular dystrophy and myopathy_Paediatric v0.139 CCDC78 Bryony Thompson Gene: ccdc78 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.139 CCDC78 Bryony Thompson Classified gene: CCDC78 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.139 CCDC78 Bryony Thompson Gene: ccdc78 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.138 BIN1 Bryony Thompson Marked gene: BIN1 as ready
Muscular dystrophy and myopathy_Paediatric v0.138 BIN1 Bryony Thompson Gene: bin1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.138 BIN1 Bryony Thompson Publications for gene: BIN1 were set to 17676042; 29950440
Muscular dystrophy and myopathy_Paediatric v0.137 BIN1 Bryony Thompson Classified gene: BIN1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.137 BIN1 Bryony Thompson Added comment: Comment on list classification: ClinGen Definititive for semidominant centronuclear myopathy by the Congenital myopathy GCEP - Classification - 27/04/2020
Muscular dystrophy and myopathy_Paediatric v0.137 BIN1 Bryony Thompson Gene: bin1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.136 ASCC3 Bryony Thompson Marked gene: ASCC3 as ready
Muscular dystrophy and myopathy_Paediatric v0.136 ASCC3 Bryony Thompson Gene: ascc3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.136 ASCC3 Bryony Thompson Classified gene: ASCC3 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.136 ASCC3 Bryony Thompson Gene: ascc3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.135 ASCC1 Bryony Thompson Marked gene: ASCC1 as ready
Muscular dystrophy and myopathy_Paediatric v0.135 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.135 ASCC1 Bryony Thompson Classified gene: ASCC1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.135 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.134 DNAJB4 Bryony Thompson Marked gene: DNAJB4 as ready
Muscular dystrophy and myopathy_Paediatric v0.134 DNAJB4 Bryony Thompson Gene: dnajb4 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.134 DNAJB4 Bryony Thompson Classified gene: DNAJB4 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.134 DNAJB4 Bryony Thompson Gene: dnajb4 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.133 DNAJB4 Bryony Thompson reviewed gene: DNAJB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 36264506; Phenotypes: Myopathy, MONDO:0005336, DNAJB4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.133 ADSSL1 Bryony Thompson Marked gene: ADSSL1 as ready
Muscular dystrophy and myopathy_Paediatric v0.133 ADSSL1 Bryony Thompson Gene: adssl1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.133 ADSSL1 Bryony Thompson Phenotypes for gene: ADSSL1 were changed from Myopathy Distal 5 (MONDO:0014877; MIM#617030) to Nemaline myopathy MONDO:0018958
Muscular dystrophy and myopathy_Paediatric v0.132 ADSSL1 Bryony Thompson Publications for gene: ADSSL1 were set to 32646962
Muscular dystrophy and myopathy_Paediatric v0.131 ADSSL1 Bryony Thompson Publications for gene: ADSSL1 were set to PMID: 3650622; 28268051; 32646962
Muscular dystrophy and myopathy_Paediatric v0.131 ADSSL1 Bryony Thompson Classified gene: ADSSL1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.131 ADSSL1 Bryony Thompson Gene: adssl1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.130 ADSSL1 Bryony Thompson reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32646962; Phenotypes: Nemaline myopathy MONDO:0018958; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.130 ACTN2 Bryony Thompson Classified gene: ACTN2 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.130 ACTN2 Bryony Thompson Gene: actn2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.129 ACTN2 Bryony Thompson Classified gene: ACTN2 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.129 ACTN2 Bryony Thompson Gene: actn2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.128 ACTN2 Bryony Thompson Marked gene: ACTN2 as ready
Muscular dystrophy and myopathy_Paediatric v0.128 ACTN2 Bryony Thompson Gene: actn2 has been removed from the panel.
Muscular dystrophy and myopathy_Paediatric v0.128 ACTN2 Bryony Thompson reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30701273; Phenotypes: Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Muscular dystrophy and myopathy_Paediatric v0.128 TPM3 Sangavi Sivagnanasundram edited their review of gene: TPM3: Changed mode of pathogenicity: Other
Muscular dystrophy and myopathy_Paediatric v0.128 TRIP4 Sangavi Sivagnanasundram gene: TRIP4 was added
gene: TRIP4 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP4 were set to 27008887; 31794073
Phenotypes for gene: TRIP4 were set to ?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066)
Review for gene: TRIP4 was set to GREEN
Added comment: PMID: 27008887
4 individuals from a consanguineous French family with congenital muscular dystrophy

PMID: 31794073
5 individuals from unrelated families with phenotypic onset in childhood or at birth consistent with congenital muscular dystrophy.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 TPM3 Sangavi Sivagnanasundram gene: TPM3 was added
gene: TPM3 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: TPM3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TPM3 were set to 26418456; 18300303; 10619715; 12196661; 18382475
Phenotypes for gene: TPM3 were set to Congenital myopathy 4A, autosomal dominant (MIM#255310); Congenital myopathy 4B, autosomal recessive (MIM#609284)
Review for gene: TPM3 was set to GREEN
Added comment: Variable age of onset due to the variability of phenotypes. Mutations in TPM3 cause a diverse group of congenital myopathies all characterised by muscle weakness/hypotonia.

AD Congenital Myopathy:
PMID: 26418456
Quantitative in vitro motility assay show that gain of function is mechanism of disease - mutations in the TPM3 gene led to an increased function in the myofibres/muscle cells.
2 unrelated individuals with ΔE218 and ΔE224 de novo deletions in TPM3 with muscle stiffness. Both muscle biopsies showed features of mild myopathy.

PMID: 18300303
4 individuals with phenotypic features of congenital myopathy and mutation present in TPM3

AR Congenital myopathy:
PMID: 10619715
Individual from consanguineous parents with severe symptoms of congenital myopathy

PMID: 12196661
Individual who is a compound heterozygote for nemaline myopathy

PMID: 18382475
Affected individuals from two turkish families with myopathy phenotypes.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 TPM2 Sangavi Sivagnanasundram gene: TPM2 was added
gene: TPM2 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TPM2 were set to 17846275; 23378224
Phenotypes for gene: TPM2 were set to Nemaline myopathy 4, autosomal dominant (MIM#609285)
Review for gene: TPM2 was set to GREEN
Added comment: - Variable age of onset
- Phenotypic symptoms overlap with CAP syndrome

PMID: 17846275
2 individuals identified with mutations in TPM2 however only one had clinical features and a muscle biopsy (with an accumulation of nemaline rods), concordant with nemaline myopathy.

PMID: 23378224
8 individuals from 5 unrelated families
Presence of congenital contractures in early childhood and all had the presence of rods in their muscle biopsies
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 TNNC2 Sangavi Sivagnanasundram gene: TNNC2 was added
gene: TNNC2 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: TNNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNC2 were set to 33755597
Phenotypes for gene: TNNC2 were set to Congenital Myopathy 15 (MIM#62016)
Review for gene: TNNC2 was set to AMBER
Added comment: Age of onset is soon after birth

PMID: 33755597
2 individuals from unrelated families
Muscle biopsies showed hypertrophy or slow-twitch myofibres.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 STAC3 Sangavi Sivagnanasundram gene: STAC3 was added
gene: STAC3 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to 28411587; 28777491
Phenotypes for gene: STAC3 were set to Congenital myopathy 13 (MIM#255995)
Review for gene: STAC3 was set to GREEN
Added comment: Also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM)

PMID: 28411587
An individual with congenital muscle weakness and contracture and clinical phenotypes consistent with myopathy.

PMID: 28777491
3 individuals from 2 unrelated consanguineous families with clinical symptoms of myopathy.

(Note: Individuals with a mutation in STAC3 are shown to have MH susceptibility in the presence of anesthesia.)
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 SPEG Sangavi Sivagnanasundram gene: SPEG was added
gene: SPEG was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to 25087613; 30412272
Phenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959
Review for gene: SPEG was set to GREEN
Added comment: Variable age of onset (typically seen from birth to early childhood)

PMID: 25087613
3 unrelated individuals with myopathic changes in their biopsy findings (increased centralize nuclei) and decreased amounts of SPEG protein.

Mouse model showed the increase in centralised nuclei in muscle biopsies concordant with a clinical diagnosis of centronuclear myopathy.

PMID: 30412272
2 individuals from unrelated families with hypotonia at birth as well as other phenotypes concordant with a clinical diagnosis of centronuclear myopathy.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 PAX7 Sangavi Sivagnanasundram gene: PAX7 was added
gene: PAX7 was added to Muscular dystrophy_Paediatric. Sources: Other
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 Congenital myopathy 19 (MIM#618578)
Review for gene: PAX7 was set to GREEN
Added comment: Infantile onset of progressive muscle weakness and atrophy

PMID: 31092906
5 individuals from 4 unrelated families with consanguineous parents - all having clinical signs of myopathy from birth.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 MYOD1 Sangavi Sivagnanasundram gene: MYOD1 was added
gene: MYOD1 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYOD1 were set to 26733463; 31260566; 30403323
Phenotypes for gene: MYOD1 were set to Congenital Myopathy 17 (MIM#618975)
Review for gene: MYOD1 was set to GREEN
Added comment: Onset of condition is typically at birth.

PMID: 26733463
3 siblings from a first degree consanguineous family with myopathy phenotype.

PMID: 31260566
Two siblings from a fourth degree consansanguineous family with poor weight gain and motor delay and muscle biopsy suggestive of myopathy.

PMID: 30403323
Patient with motor delay, hypotonia identified with a homozygous variant in MYOD1 causative of congenital myopathy. The variant was shown to segregate in the family.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 MYL1 Sangavi Sivagnanasundram gene: MYL1 was added
gene: MYL1 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL1 were set to 30275711
Phenotypes for gene: MYL1 were set to Congenital Myopathy 14 (MIM#618414)
Review for gene: MYL1 was set to AMBER
Added comment: Phenotypic onset is seen typically at birth or in utero during pregnancy.
Skeletal muscle biopsy typically show a variation in fibre size with specific atrophy of the fast-twitch type II fibres.

PMID: 30275711
2 individuals from unrelated consanguineous families.
Zebrafish model showed a reduced muscle development resulting in the aberrant phenotypes.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 MYBPC1 Sangavi Sivagnanasundram gene: MYBPC1 was added
gene: MYBPC1 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: MYBPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYBPC1 were set to 31264822; 31025394
Phenotypes for gene: MYBPC1 were set to Congenital Myopathy 16 (MIM#618524)
Review for gene: MYBPC1 was set to GREEN
Added comment: age of onset is seen to be typically during infancy

PMID: 31264822
4 individuals from 3 unrelated families with myopathy related phenotypes

PMID: 31025394
2 individuals from unrelated families with myopathy
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 MTMR14 Sangavi Sivagnanasundram gene: MTMR14 was added
gene: MTMR14 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: MTMR14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTMR14 were set to 20400459; 20817957; 19465920; 17008356
Phenotypes for gene: MTMR14 were set to {Centronuclear myopathy, autosomal, modifier of} (MIM#160150)
Review for gene: MTMR14 was set to AMBER
Added comment: Functional assays show the effect of the protein on the gene function that related to the phenotypes expected, however the gene has only been reported and confirmed to cause myopathy in one case.

PMID: 20400459; 20817957; 19465920
Mouse and Zebrafish models show the effect of loss of function of MTMR14 protein due to mutations in MTMR14 which resulted in phenotypic features of myopathy

PMID: 17008356
Reported in two families with myopathy however the second individual had an alternate diagnosis.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 MAP3K20 Sangavi Sivagnanasundram gene: MAP3K20 was added
gene: MAP3K20 was added to Muscular dystrophy_Paediatric. Sources: Other
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 Centronuclear myopathy 6 with fiber-type disproportion (MIM#617760; MONDO:0054695)
Review for gene: MAP3K20 was set to GREEN
Added comment: Age of onset - Infancy or early childhood

Phenotype and muscle biopsy abnormalities are variable - centralized nuclei and fibre type disproportion seem to be a common finding

PMID: 27816943
6 individuals from 3 unrelated consanguineous families with myopathy
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 LMOD3 Sangavi Sivagnanasundram gene: LMOD3 was added
gene: LMOD3 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD3 were set to 25250574; 28815944; 30291184
Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10 (MIM# 616165; MONDO:0014513)
Review for gene: LMOD3 was set to GREEN
Added comment: Age of onset is typically during pregnancy (antenatal) however severity of the condition is variable.
Typical phenotypes include: severe generalized hypotonia and weakness at birth, respiratory insufficiency, feeding difficulties, and bulbar weakness

PMID: 25250574
Multiple individuals from unrelated families (21 individuals from 14 patients).
Segregation analysis was consistent of an AR inheritance
Zebrafish model showed the complete loss of function in myotubes resulting in abnormal motor function.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 KLHL41 Sangavi Sivagnanasundram gene: KLHL41 was added
gene: KLHL41 was added to Muscular dystrophy_Paediatric. Sources: Other
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 (MIM#615731; MONDO:0014326)
Review for gene: KLHL41 was set to GREEN
Added comment: Age of onset is not definitive - condition has high phenotypic variability

PMID: 24268659
Zebrafish functional study model showed the loss of function of KLHL41 resulting in highly diminished motor function.

5 unrelated children with nemaline myopathy 9. Muscle biopsies in individuals showed the presence of sarcoplamisc rods in myofibers.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 KLHL40 Sangavi Sivagnanasundram gene: KLHL40 was added
gene: KLHL40 was added to Muscular dystrophy_Paediatric. Sources: Other
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, MIM# 615348
Review for gene: KLHL40 was set to GREEN
Added comment: PMID: 23746549
Multiple individuals from unrelated families identified with NEM (both severe and milder forms)
Study showed that KLHL40 mutations are more likely to cause severe NEM

Identified founder mutation, c.1582G>A, in Japanese population. Was also found in Kurdish and Turkish population.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 KBTBD13 Sangavi Sivagnanasundram gene: KBTBD13 was added
gene: KBTBD13 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KBTBD13 were set to 21104864; 11731279; 21109227
Phenotypes for gene: KBTBD13 were set to Nemaline myopathy 6, autosomal dominant (MIM# 609273; MONDO:0012237)
Review for gene: KBTBD13 was set to GREEN
Added comment: PMID: 21104864; 11731279; 21109227
4 individuals from unrelated families with clinical features consistent with nemaline myopathy

(articles reference the gene NEM6 - previous name)
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 HRAS Sangavi Sivagnanasundram gene: HRAS was added
gene: HRAS was added to Muscular dystrophy_Paediatric. Sources: Other
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 Congenital myopathy with excess of muscle spindles (MIM#218040)
Review for gene: HRAS was set to AMBER
Added comment: A variant of Costello Syndrome which is typically characterised by diffuse hypotonia, short stature, developmental delay etc.

Age of onset - birth to early childhood

Most of the mutations related to CMEMS are inherited in an Autosomal Dominant manner, some can be caused by Somatic mutations as well.

PMID: 17412879
4 unrelated individuals identified with a mutation in HRAS and clinical features causative of congenital myopathy with excess of muscle spindles (CMEMS). No functional evidence or animal model study conducted yet
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 HACD1 Sangavi Sivagnanasundram gene: HACD1 was added
gene: HACD1 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACD1 were set to 32426512; 27939133; 33354762; 23933735
Phenotypes for gene: HACD1 were set to Congenital myopathy 11 (MIM#619967; MONDO:0019952)
Review for gene: HACD1 was set to GREEN
Added comment: Age of onset - from birth to early childhood (typically) but is not progressive

PMID: 32426512; 27939133
Individual from consanguineous parents present with a LINE insertation mutation in HACD1 known to cause a form of centronuclear myopathy in dogs.
Developed myopathy features from the age of 4

PMID: 33354762
3 individuals from unrelated families with a homozygous mutation causative of congenital myopathy. Age of onset of symptoms varied between birth to early childhood in these patients. The symptoms showed that the disorder is not progressive and muscle weakness improves in late childhood.

PMID: 23933735
Large consanguineous family with 4 carrying a homozygous mutation in HACD1 causative of congenital myopathy.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 FXR1 Sangavi Sivagnanasundram gene: FXR1 was added
gene: FXR1 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXR1 were set to 30770808; 35393337
Phenotypes for gene: FXR1 were set to Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823; MONDO:0032937)
Review for gene: FXR1 was set to GREEN
Added comment: Variable age of onset - typically early to late childhood

PMID: 30770808
4 individuals from 2 unrelated families (3 individuals reported from the same family) present with phenotypic features of myopathy such as hypotonia.

PMID: 35393337
8 individuals from 4 unrelated families identified with bi-allelic variants with myopathy phenotypes
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 EPG5 Sangavi Sivagnanasundram gene: EPG5 was added
gene: EPG5 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: EPG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23222957
Phenotypes for gene: EPG5 were set to Vici Syndrome (MONDO: 0009452; MIM#242840)
Review for gene: EPG5 was set to GREEN
Added comment: Rare congenital disorder (that is reported in multiple individuals) - individuals typically present with profound psychomotor retardation and hypotonia due to myopathy.

Age of onset is typically early childhood.

PMID: 23222957
>6 individuals from unrelated families identified with mutations in EPG5 and phenotypic features related to Vici Syndrome
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 DYNC1H1 Sangavi Sivagnanasundram gene: DYNC1H1 was added
gene: DYNC1H1 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1H1 were set to PMID: 2245967; 25609763
Phenotypes for gene: DYNC1H1 were set to Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600; MONDO:0008026)
Review for gene: DYNC1H1 was set to GREEN
Added comment: Phenotypes can resemble those similar to congenital myopathy
Age of onset ranges from birth to early childhood

PMID: 22459677
Phenotypes included early childood onset of proximal leg weakness with muscle atropy and significant motor delay

PMID: 25609763
>10 individuals with SMA phenotypic features similar to congenital myopathy
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 DHX16 Sangavi Sivagnanasundram gene: DHX16 was added
gene: DHX16 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DHX16 were set to 36211162
Phenotypes for gene: DHX16 were set to Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733; MONDO:0032890)
Review for gene: DHX16 was set to RED
Added comment: Gene not related to congenital myopathies but has phenotype overlap

PMID: 36211162
One individual presents with severe hypotonia as well as sensorineural deafness and a mixed axonal sensory with developmental delay.
Identified a de novo vairant present causative of Neuromuscular disease and ocular or auditory anomalies with or without seizures.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 CNTN1 Sangavi Sivagnanasundram gene: CNTN1 was added
gene: CNTN1 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN1 were set to 10926398
Phenotypes for gene: CNTN1 were set to Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929; MIM#612540)
Review for gene: CNTN1 was set to AMBER
Added comment: PMID: 10926398
single family reported with clinical features consistent with severe lethal myopathy
(age of onset is unknown as only one family has been reported)
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 CFL2 Sangavi Sivagnanasundram gene: CFL2 was added
gene: CFL2 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFL2 were set to PMID: 17160903; 22560515
Phenotypes for gene: CFL2 were set to Nemaline myopathy 7 (MONDO:0012538; MIM#610687)
Review for gene: CFL2 was set to GREEN
Added comment: PMID: 17160903; 22560515
Age of onset - from birth to early childhood (typically around the ages of expected childhood milestones)
- 4 individuals from 2 unrelated consangineous families with clinical phenotypes consistent with congenital myopathy
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 CCDC78 Sangavi Sivagnanasundram gene: CCDC78 was added
gene: CCDC78 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCDC78 were set to 22818856
Phenotypes for gene: CCDC78 were set to Centronuclear Myopathy (MIM#614807; MONDO: 0018947)
Review for gene: CCDC78 was set to AMBER
Added comment: PMID: 22818856
5 individuals in the same family with features of myopathy
(Hypotonia, excessive fatigue, prominent myalgias)
Mutations in this gene are not common for congenital myopathy.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 ASCC3 Sangavi Sivagnanasundram gene: ASCC3 was added
gene: ASCC3 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 35047834
Phenotypes for gene: ASCC3 were set to Congenital Myopathy (MONDO:0019952); Neuromuscular Symptoms
Review for gene: ASCC3 was set to GREEN
Added comment: PMID: 35047834
11 individuals from 7 unrelated families present with clinical phenotypes consistent with ASCC3-related myopathy.
All individuals reported developmental delay and muscle weakness but age of onset is unknown
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 ASCC1 Sangavi Sivagnanasundram gene: ASCC1 was added
gene: ASCC1 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to (PMID: 30327447; 35838082; 26924529)
Phenotypes for gene: ASCC1 were set to Congenital Myopathy - MONDO:0019952
Review for gene: ASCC1 was set to GREEN
Added comment: PMID: 30327447; 35838082
>3 individuals from unrelated families with clinical features consistent with congenital myopathy

PMID: 35838082
Individual with congenital myopathy phenotype and a mutation in ASCC1.

PMID: 26924529
Animal study showed the effect on ASCC1 protein function in muscle cells.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 NEB Sangavi Sivagnanasundram gene: NEB was added
gene: NEB was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEB were set to 25205138
Phenotypes for gene: NEB were set to Nemaline Myopathy 2 (MIM#256030; MONDO: 0009725)
Review for gene: NEB was set to GREEN
Added comment: PMID: 25205138
Multiple individuals diagnosed with nemaline myopathy 2 in a well-established gene with variable age of onset
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 MYPN Sangavi Sivagnanasundram gene: MYPN was added
gene: MYPN was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYPN were set to 28017374
Phenotypes for gene: MYPN were set to Nemaline Myopathy (MIM#617336; MONDO:0018958)
Review for gene: MYPN was set to GREEN
Added comment: PMID: 28017374
Slowly progressive myopathy with onset in childhood
Identified in at least 4 individuals
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 DNM2 Sangavi Sivagnanasundram gene: DNM2 was added
gene: DNM2 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 17932957; 19122038
Phenotypes for gene: DNM2 were set to Centronuclear Myopathy 1 (MIM#160150; MONDO:0008048)
Review for gene: DNM2 was set to GREEN
Added comment: PMID: 17932957, 19122038
Multiple individuals with centronuclear myopathy.
Age of onset is variable but typically in the early childhood.
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 DNAJB4 Sangavi Sivagnanasundram gene: DNAJB4 was added
gene: DNAJB4 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB4 were set to 36264506
Phenotypes for gene: DNAJB4 were set to Congenital Myopathy 21 with early respiratory failure (MIM#620326; MONDO:005336)
Review for gene: DNAJB4 was set to GREEN
Added comment: PMID: 36264506
4 individuals from unrelated families with congenital myopathy with variable age of onset
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 BIN1 Sangavi Sivagnanasundram gene: BIN1 was added
gene: BIN1 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: BIN1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: BIN1 were set to 17676042; 29950440
Phenotypes for gene: BIN1 were set to Centronuclear myopathy 2 (MONDO: 0009709; MIM#255200)
Review for gene: BIN1 was set to GREEN
Added comment: PMID: 17676042
3 unrelated consanguineous families with centronuclear myopathy 2.
Age of onset ranged from birth to childhood

PMID: 29950440
Homozygous patients have a more specific and severe phenotype compared to compound heterozygous patients with similar age of onset
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 ADSSL1 Sangavi Sivagnanasundram gene: ADSSL1 was added
gene: ADSSL1 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSSL1 were set to PMID: 3650622; 28268051; 32646962
Phenotypes for gene: ADSSL1 were set to Myopathy Distal 5 (MONDO:0014877; MIM#617030)
Review for gene: ADSSL1 was set to GREEN
Added comment: PMID: 3650622; 28268051
Age of onset 13-17 years in multiple individuals of unrelated families

PMID: 32646962 - Multiple individuals diagnosed with distal myopathy 5 (MD5)
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 ACTN2 Sangavi Sivagnanasundram gene: ACTN2 was added
gene: ACTN2 was added to Muscular dystrophy_Paediatric. Sources: Other
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTN2 were set to 30701273
Phenotypes for gene: ACTN2 were set to Congenital Myopathy 8 (MIM#618654; MONDO: 0032852)
Penetrance for gene: ACTN2 were set to unknown
Review for gene: ACTN2 was set to GREEN
Added comment: PMID: 30701273
2 unrelated individuals with congenital myopathy plus an in vivo zebrafish model showed a loss in protein function resulting in zebrafish embryo hatching defect and impaired motor function.
- Age of onset in both individuals was in the first decade of life
Sources: Other
Muscular dystrophy and myopathy_Paediatric v0.128 COL12A1 Elena Savva changed review comment from: Additional infant proband but with limited clinical information, had chet canonical splice with a PTC.

VCGS patient: homozygous for a canonical splice variant with a severe neonatal presentation of arthrogryposis and muscular hypotonia.

Total: three reports, upgraded to green; to: Additional infant proband but with limited clinical information, had chet canonical splice with a PTC.

VCGS patient: homozygous for a canonical splice variant with a severe neonatal presentation of arthrogryposis and muscular hypotonia.

Total: three reports, upgraded to green
Muscular dystrophy and myopathy_Paediatric v0.128 COL12A1 Elena Savva changed review comment from: Additional infant proband but with limited clinical information, had chet canonical splice with a PTC; to: Additional infant proband but with limited clinical information, had chet canonical splice with a PTC.

VCGS patient: homozygous for a canonical splice variant with a severe neonatal presentation of arthrogryposis and muscular hypotonia.

Total: three reports, upgraded to green
Muscular dystrophy and myopathy_Paediatric v0.128 COL12A1 Elena Savva Classified gene: COL12A1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.128 COL12A1 Elena Savva Gene: col12a1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.127 COL12A1 Elena Savva Publications for gene: COL12A1 were set to 24334604
Muscular dystrophy and myopathy_Paediatric v0.127 COL12A1 Elena Savva Classified gene: COL12A1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.127 COL12A1 Elena Savva Gene: col12a1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.126 COL12A1 Elena Savva reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28973083, 24334604; Phenotypes: ?Ullrich congenital muscular dystrophy 2 MIM#616470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.126 GOLGA2 Zornitza Stark Phenotypes for gene: GOLGA2 were changed from Neuromuscular disorder to Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240
Muscular dystrophy and myopathy_Paediatric v0.125 GOLGA2 Zornitza Stark Publications for gene: GOLGA2 were set to PMID: 30237576; 26742501
Muscular dystrophy and myopathy_Paediatric v0.124 GOLGA2 Zornitza Stark edited their review of gene: GOLGA2: Added comment: Third family reported.; Changed publications: 34424553
Muscular dystrophy and myopathy_Paediatric v0.124 GOLGA2 Zornitza Stark edited their review of gene: GOLGA2: Changed phenotypes: Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.124 Zornitza Stark HPO terms changed from to Muscular dystrophy, HP:0003560; Elevated circulating creatine kinase concentration, HP:0003236
List of related panels changed from to Muscular dystrophy; HP:0003560; Elevated circulating creatine kinase concentration; HP:0003236
Muscular dystrophy and myopathy_Paediatric v0.123 GOSR2 Zornitza Stark Phenotypes for gene: GOSR2 were changed from Epilepsy, progressive myoclonic 6 614018 to Muscular dystrophy, congenital, with or without seizures, MIM# 620166
Muscular dystrophy and myopathy_Paediatric v0.122 POGLUT1 Zornitza Stark Marked gene: POGLUT1 as ready
Muscular dystrophy and myopathy_Paediatric v0.122 POGLUT1 Zornitza Stark Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.122 POGLUT1 Zornitza Stark Classified gene: POGLUT1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.122 POGLUT1 Zornitza Stark Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.121 POGLUT1 Zornitza Stark gene: POGLUT1 was added
gene: POGLUT1 was added to Muscular dystrophy_Paediatric. Sources: Literature
Mode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POGLUT1 were set to 33861953
Phenotypes for gene: POGLUT1 were set to Muscular dystrophy, MONDO:0020121, POGLUT1-related
Review for gene: POGLUT1 was set to AMBER
Added comment: in addition to adult-onset LGMD R21 (OMIM# 617232), biallelic variants in POGLUT1 gene have been reported in one patient with congenital muscular dystrophy and in two further patients with onset before 3 years of age. The presenting symptom were hypotonia with lower limb proximal weakness after gait acquisition, and further progression with mild weakness, wasting and contractures of the upper limbs, mild facial weakness, ptosis, and nasal voice. weakness was more severe and had faster progression compared to later onset patients. Muscle biopsies show evidence of α-dystroglycan hypoglycosylation. POGLUT1 activity is critical for the Notch signalling pathway, as JAG2.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.120 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Muscular dystrophy and myopathy_Paediatric v0.119 CAVIN1 Zornitza Stark Tag treatable tag was added to gene: CAVIN1.
Muscular dystrophy and myopathy_Paediatric v0.119 DAG1 Zornitza Stark Marked gene: DAG1 as ready
Muscular dystrophy and myopathy_Paediatric v0.119 DAG1 Zornitza Stark Gene: dag1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.119 DAG1 Zornitza Stark Phenotypes for gene: DAG1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Walker-Warburg syndrome and tectocerebellar dysgraphia
Muscular dystrophy and myopathy_Paediatric v0.118 DAG1 Zornitza Stark Publications for gene: DAG1 were set to
Muscular dystrophy and myopathy_Paediatric v0.117 DAG1 Zornitza Stark Mode of inheritance for gene: DAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.116 COL6A1 Zornitza Stark Marked gene: COL6A1 as ready
Muscular dystrophy and myopathy_Paediatric v0.116 COL6A1 Zornitza Stark Gene: col6a1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.116 COL6A1 Zornitza Stark Phenotypes for gene: COL6A1 were changed from to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090
Muscular dystrophy and myopathy_Paediatric v0.115 COL6A1 Zornitza Stark Publications for gene: COL6A1 were set to
Muscular dystrophy and myopathy_Paediatric v0.114 COL6A1 Zornitza Stark Mode of inheritance for gene: COL6A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.113 COL6A1 Zornitza Stark reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.113 COL12A1 Zornitza Stark Marked gene: COL12A1 as ready
Muscular dystrophy and myopathy_Paediatric v0.113 COL12A1 Zornitza Stark Gene: col12a1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.113 COL12A1 Zornitza Stark Phenotypes for gene: COL12A1 were changed from to Ullrich congenital muscular dystrophy 2 , MIM# 616470
Muscular dystrophy and myopathy_Paediatric v0.112 COL12A1 Zornitza Stark Publications for gene: COL12A1 were set to
Muscular dystrophy and myopathy_Paediatric v0.111 COL12A1 Zornitza Stark Mode of inheritance for gene: COL12A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.110 COL12A1 Zornitza Stark Classified gene: COL12A1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.110 COL12A1 Zornitza Stark Gene: col12a1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.109 COL12A1 Zornitza Stark reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24334604; Phenotypes: Ullrich congenital muscular dystrophy 2 , MIM# 616470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.109 CHKB Zornitza Stark Marked gene: CHKB as ready
Muscular dystrophy and myopathy_Paediatric v0.109 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.109 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Muscular dystrophy and myopathy_Paediatric v0.108 CHKB Zornitza Stark Publications for gene: CHKB were set to
Muscular dystrophy and myopathy_Paediatric v0.107 CHKB Zornitza Stark Mode of inheritance for gene: CHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.106 ACTA1 Zornitza Stark Marked gene: ACTA1 as ready
Muscular dystrophy and myopathy_Paediatric v0.106 ACTA1 Zornitza Stark Gene: acta1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.106 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from to Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800
Muscular dystrophy and myopathy_Paediatric v0.105 ACTA1 Zornitza Stark Publications for gene: ACTA1 were set to
Muscular dystrophy and myopathy_Paediatric v0.104 ACTA1 Zornitza Stark Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.103 ACTA1 Zornitza Stark reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.102 POMK Zornitza Stark Marked gene: POMK as ready
Muscular dystrophy and myopathy_Paediatric v0.102 POMK Zornitza Stark Gene: pomk has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.102 POMK Zornitza Stark Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094
Muscular dystrophy and myopathy_Paediatric v0.101 POMK Zornitza Stark Publications for gene: POMK were set to
Muscular dystrophy and myopathy_Paediatric v0.100 POMK Zornitza Stark Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.99 POMK Zornitza Stark reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32907597, 31833209, 29910097, 28109637, 24925318, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.99 ITGA7 Zornitza Stark Marked gene: ITGA7 as ready
Muscular dystrophy and myopathy_Paediatric v0.99 ITGA7 Zornitza Stark Gene: itga7 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.99 ITGA7 Zornitza Stark Phenotypes for gene: ITGA7 were changed from to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204
Muscular dystrophy and myopathy_Paediatric v0.98 ITGA7 Zornitza Stark Publications for gene: ITGA7 were set to
Muscular dystrophy and myopathy_Paediatric v0.97 ITGA7 Zornitza Stark Mode of inheritance for gene: ITGA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.96 ITGA7 Zornitza Stark reviewed gene: ITGA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 34552617, 9590299; Phenotypes: Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.96 BET1 Zornitza Stark Marked gene: BET1 as ready
Muscular dystrophy and myopathy_Paediatric v0.96 BET1 Zornitza Stark Gene: bet1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.96 BET1 Zornitza Stark Classified gene: BET1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.96 BET1 Zornitza Stark Gene: bet1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.95 BET1 Zornitza Stark gene: BET1 was added
gene: BET1 was added to Muscular dystrophy_Paediatric. Sources: Literature
Mode of inheritance for gene: BET1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BET1 were set to 34779586
Phenotypes for gene: BET1 were set to Muscular dystrophy; Epilepsy
Review for gene: BET1 was set to AMBER
Added comment: Three individuals from 2 unrelated families reported.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.94 JAG2 Zornitza Stark Phenotypes for gene: JAG2 were changed from muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566; muscular dystrophy
Muscular dystrophy and myopathy_Paediatric v0.93 JAG2 Zornitza Stark edited their review of gene: JAG2: Changed phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566, muscular dystrophy
Muscular dystrophy and myopathy_Paediatric v0.93 GGPS1 Zornitza Stark Phenotypes for gene: GGPS1 were changed from Muscular dystrophy; Deafness; Ovarian insufficiency to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518; Muscular dystrophy; Deafness; Ovarian insufficiency
Muscular dystrophy and myopathy_Paediatric v0.92 GGPS1 Zornitza Stark edited their review of gene: GGPS1: Changed phenotypes: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518, Muscular dystrophy, Deafness, Ovarian insufficiency
Muscular dystrophy and myopathy_Paediatric v0.92 GOSR2 Bryony Thompson Classified gene: GOSR2 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.92 GOSR2 Bryony Thompson Added comment: Comment on list classification: Additional cases reported with muscular dystrophy
Muscular dystrophy and myopathy_Paediatric v0.92 GOSR2 Bryony Thompson Gene: gosr2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.91 GOSR2 Bryony Thompson reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34167170, 33639315, 33639315, 29855340, DOI:https://doi.org/10.1016/j.nmd.2013.06.404; Phenotypes: Epilepsy, progressive myoclonic 6 MIM#614018, congenital muscluar dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.91 ATP6V1A Zornitza Stark Marked gene: ATP6V1A as ready
Muscular dystrophy and myopathy_Paediatric v0.91 ATP6V1A Zornitza Stark Added comment: Comment when marking as ready: CK markedly raised in some.
Muscular dystrophy and myopathy_Paediatric v0.91 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.91 ATP6V1A Zornitza Stark Phenotypes for gene: ATP6V1A were changed from Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012 to Cutis laxa, autosomal recessive, type IID MIM#617403
Muscular dystrophy and myopathy_Paediatric v0.90 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.90 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.89 ATP6V1A Elena Savva gene: ATP6V1A was added
gene: ATP6V1A was added to Muscular dystrophy_Paediatric. Sources: Literature
Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to PMID: 28065471; 33320377
Phenotypes for gene: ATP6V1A were set to Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012
Review for gene: ATP6V1A was set to GREEN
Added comment: 3 families were reported with elevated CK levels in patients with cutis laxa AR phenotype
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.89 JAG2 Zornitza Stark Marked gene: JAG2 as ready
Muscular dystrophy and myopathy_Paediatric v0.89 JAG2 Zornitza Stark Gene: jag2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.89 JAG2 Zornitza Stark Classified gene: JAG2 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.89 JAG2 Zornitza Stark Gene: jag2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.88 JAG2 Zornitza Stark gene: JAG2 was added
gene: JAG2 was added to Muscular dystrophy_Paediatric. Sources: Literature
Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAG2 were set to 33861953
Phenotypes for gene: JAG2 were set to muscular dystrophy
Review for gene: JAG2 was set to GREEN
Added comment: Whole-exome sequencing identified 13 families with rare homozygous or compound heterozygous JAG2 variants. Bi-allelic variants include 10 missense variants that disrupt highly conserved amino acids, a nonsense variant, two frameshift variants, an in-frame deletion, and a microdeletion encompassing JAG2. Onset of muscle weakness occurred from infancy to young adulthood. Serum creatine kinase (CK) levels were normal or mildly elevated. Muscle histology was primarily dystrophic. MRI of the lower extremities revealed a distinct, slightly asymmetric pattern of muscle involvement with cores of preserved and affected muscles in quadriceps and tibialis anterior, in some cases resembling patterns seen in POGLUT1-associated muscular dystrophy.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.87 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Muscular dystrophy and myopathy_Paediatric v0.87 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.87 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Muscular dystrophy and myopathy_Paediatric v0.86 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Muscular dystrophy and myopathy_Paediatric v0.85 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.84 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.84 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Muscular dystrophy and myopathy_Paediatric v0.84 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.84 MPDU1 Zornitza Stark Classified gene: MPDU1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.84 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.83 MPDU1 Zornitza Stark gene: MPDU1 was added
gene: MPDU1 was added to Muscular dystrophy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDU1 were set to 11733564; 11733556; 31741824; 29721919
Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Review for gene: MPDU1 was set to GREEN
Added comment: More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK.
Sources: Expert Review
Muscular dystrophy and myopathy_Paediatric v0.82 DOLK Zornitza Stark Marked gene: DOLK as ready
Muscular dystrophy and myopathy_Paediatric v0.82 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.82 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Muscular dystrophy and myopathy_Paediatric v0.81 DOLK Zornitza Stark Publications for gene: DOLK were set to
Muscular dystrophy and myopathy_Paediatric v0.80 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.79 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.79 DPM3 Zornitza Stark Marked gene: DPM3 as ready
Muscular dystrophy and myopathy_Paediatric v0.79 DPM3 Zornitza Stark Gene: dpm3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.79 DPM3 Zornitza Stark Phenotypes for gene: DPM3 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992
Muscular dystrophy and myopathy_Paediatric v0.78 DPM3 Zornitza Stark Publications for gene: DPM3 were set to
Muscular dystrophy and myopathy_Paediatric v0.77 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.76 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31266720, 28803818, 19576565, 31266720, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.76 ISPD Zornitza Stark Tag SV/CNV tag was added to gene: ISPD.
Muscular dystrophy and myopathy_Paediatric v0.76 ISPD Zornitza Stark edited their review of gene: ISPD: Added comment: - No distinct genotype-phenotype correlation. - Congenital MD is more commonly reported and has been reported in patients with hom PTCs, missense and chet (missense/PTCs) (OMIM). - Limb girdle MD has also been reported for chet patients (PMID: 28688748; PMID: 30060766). Patient fibroblasts showed impaired O-mannosylation, and transfection with wildtype protein have restored function (rescue) (PMID: 22522420). Intragenic CNVs are commonly reported for this gene (OMIM).; Changed publications: 22522421, 23217329, 23390185, 30060766, 28688748, 26404900, 30060766
Muscular dystrophy and myopathy_Paediatric v0.76 MICU1 Zornitza Stark Marked gene: MICU1 as ready
Muscular dystrophy and myopathy_Paediatric v0.76 MICU1 Zornitza Stark Gene: micu1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.76 MICU1 Zornitza Stark Phenotypes for gene: MICU1 were changed from to Myopathy with extrapyramidal signs, MIM# 615673
Muscular dystrophy and myopathy_Paediatric v0.75 MICU1 Zornitza Stark Tag founder tag was added to gene: MICU1.
Muscular dystrophy and myopathy_Paediatric v0.75 MICU1 Zornitza Stark Publications for gene: MICU1 were set to
Muscular dystrophy and myopathy_Paediatric v0.74 MICU1 Zornitza Stark Mode of inheritance for gene: MICU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.73 MICU1 Zornitza Stark reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24336167, 29721912, 32395406; Phenotypes: Myopathy with extrapyramidal signs, MIM# 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.73 TMEM5 Zornitza Stark Marked gene: TMEM5 as ready
Muscular dystrophy and myopathy_Paediatric v0.73 TMEM5 Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.73 TMEM5 Zornitza Stark Phenotypes for gene: TMEM5 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041
Muscular dystrophy and myopathy_Paediatric v0.72 TMEM5 Zornitza Stark Publications for gene: TMEM5 were set to
Muscular dystrophy and myopathy_Paediatric v0.71 TMEM5 Zornitza Stark Mode of inheritance for gene: TMEM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.70 TMEM5 Zornitza Stark reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23217329, 23519211; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.70 ISPD Zornitza Stark Marked gene: ISPD as ready
Muscular dystrophy and myopathy_Paediatric v0.70 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.70 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052
Muscular dystrophy and myopathy_Paediatric v0.69 ISPD Zornitza Stark Publications for gene: ISPD were set to
Muscular dystrophy and myopathy_Paediatric v0.68 ISPD Zornitza Stark Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.67 ISPD Zornitza Stark reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522421, 23217329, 23390185, 30060766, 28688748, 26404900; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.67 Zornitza Stark Panel name changed from Muscular dystrophy to Muscular dystrophy_Paediatric
Muscular dystrophy and myopathy_Paediatric v0.66 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Muscular dystrophy and myopathy_Paediatric v0.66 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.66 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Muscular dystrophy and myopathy_Paediatric v0.65 LAMA2 Zornitza Stark Publications for gene: LAMA2 were set to
Muscular dystrophy and myopathy_Paediatric v0.64 LAMA2 Zornitza Stark Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.63 LAMA2 Zornitza Stark reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055037; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855, Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.63 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Muscular dystrophy and myopathy_Paediatric v0.62 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Muscular dystrophy and myopathy_Paediatric v0.61 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.60 B3GNT2 Zornitza Stark Classified gene: B3GNT2 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.60 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.59 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported.; Changed rating: AMBER; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.59 DPM2 Zornitza Stark Marked gene: DPM2 as ready
Muscular dystrophy and myopathy_Paediatric v0.59 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.59 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu, MIM# 615042
Muscular dystrophy and myopathy_Paediatric v0.58 DPM2 Zornitza Stark Publications for gene: DPM2 were set to
Muscular dystrophy and myopathy_Paediatric v0.57 DPM2 Zornitza Stark Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.56 DPM2 Zornitza Stark Classified gene: DPM2 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.56 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.55 DPM2 Zornitza Stark reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23109149; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM# 615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.55 MYBPC3 Zornitza Stark Marked gene: MYBPC3 as ready
Muscular dystrophy and myopathy_Paediatric v0.55 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.55 MYBPC3 Zornitza Stark Classified gene: MYBPC3 as Red List (low evidence)
Muscular dystrophy and myopathy_Paediatric v0.55 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.54 MYBPC3 Elena Savva gene: MYBPC3 was added
gene: MYBPC3 was added to Muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: MYBPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC3 were set to PMID: 19858127
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy with myopathy
Review for gene: MYBPC3 was set to RED
Added comment: Single report of a dystrophy, patient was homozygous for a PTC.
Sources: Expert list
Muscular dystrophy and myopathy_Paediatric v0.54 GGPS1 Zornitza Stark Marked gene: GGPS1 as ready
Muscular dystrophy and myopathy_Paediatric v0.54 GGPS1 Zornitza Stark Gene: ggps1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.54 GGPS1 Zornitza Stark Classified gene: GGPS1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.54 GGPS1 Zornitza Stark Gene: ggps1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.53 GGPS1 Zornitza Stark gene: GGPS1 was added
gene: GGPS1 was added to Muscular dystrophy. Sources: Literature
Mode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGPS1 were set to 32403198
Phenotypes for gene: GGPS1 were set to Muscular dystrophy; Deafness; Ovarian insufficiency
Review for gene: GGPS1 was set to GREEN
Added comment: 11 individuals from 6 unrelated families reported. In addition to proximal weakness, all but one patient presented with congenital sensorineural hearing loss, and all postpubertal females had primary ovarian insufficiency. Muscle histology was dystrophic, with ultrastructural evidence of autophagic material and large mitochondria in the most severe cases. Knock-in mouse of one of the mutations (Y259C) resulted in prenatal lethality.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.52 SELENON Zornitza Stark Marked gene: SELENON as ready
Muscular dystrophy and myopathy_Paediatric v0.52 SELENON Zornitza Stark Gene: selenon has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.52 SELENON Zornitza Stark Phenotypes for gene: SELENON were changed from to Muscular dystrophy, rigid spine, 1 (MIM#602771)
Muscular dystrophy and myopathy_Paediatric v0.51 SELENON Zornitza Stark Publications for gene: SELENON were set to
Muscular dystrophy and myopathy_Paediatric v0.50 SELENON Zornitza Stark Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.50 SELENON Zornitza Stark Mode of inheritance for gene: SELENON was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.49 SELENON Zornitza Stark Mode of inheritance for gene: SELENON was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.48 SELENON Crystle Lee reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 11528383; Phenotypes: Muscular dystrophy, rigid spine, 1 (MIM#602771); Mode of inheritance: None
Muscular dystrophy and myopathy_Paediatric v0.48 DMD Zornitza Stark Marked gene: DMD as ready
Muscular dystrophy and myopathy_Paediatric v0.48 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.48 DMD Zornitza Stark Tag SV/CNV tag was added to gene: DMD.
Muscular dystrophy and myopathy_Paediatric v0.48 DMD Zornitza Stark Phenotypes for gene: DMD were changed from to Duchenne muscular dystrophy (MIM#310200); Becker muscular dystrophy (MIM#300376)
Muscular dystrophy and myopathy_Paediatric v0.47 DMD Zornitza Stark Mode of inheritance for gene: DMD was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Muscular dystrophy and myopathy_Paediatric v0.46 Zornitza Stark removed gene:SGCG from the panel
Muscular dystrophy and myopathy_Paediatric v0.45 CAPN3 Zornitza Stark Marked gene: CAPN3 as ready
Muscular dystrophy and myopathy_Paediatric v0.45 CAPN3 Zornitza Stark Gene: capn3 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.45 CAPN3 Zornitza Stark Classified gene: CAPN3 as Red List (low evidence)
Muscular dystrophy and myopathy_Paediatric v0.45 CAPN3 Zornitza Stark Gene: capn3 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.44 CAPN3 Zornitza Stark reviewed gene: CAPN3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Muscular dystrophy and myopathy_Paediatric v0.44 CAPN3 Zornitza Stark Classified gene: CAPN3 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.44 CAPN3 Zornitza Stark Gene: capn3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.43 GOSR2 Zornitza Stark Marked gene: GOSR2 as ready
Muscular dystrophy and myopathy_Paediatric v0.43 GOSR2 Zornitza Stark Gene: gosr2 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.43 GOSR2 Zornitza Stark Classified gene: GOSR2 as Red List (low evidence)
Muscular dystrophy and myopathy_Paediatric v0.43 GOSR2 Zornitza Stark Gene: gosr2 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.42 MSTO1 Zornitza Stark Marked gene: MSTO1 as ready
Muscular dystrophy and myopathy_Paediatric v0.42 MSTO1 Zornitza Stark Added comment: Comment when marking as ready: Green for bi-allelic disease.
Muscular dystrophy and myopathy_Paediatric v0.42 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.42 MSTO1 Zornitza Stark Classified gene: MSTO1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.42 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.41 GOLGA2 Zornitza Stark reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Muscular dystrophy and myopathy_Paediatric v0.41 GOLGA2 Zornitza Stark Marked gene: GOLGA2 as ready
Muscular dystrophy and myopathy_Paediatric v0.41 GOLGA2 Zornitza Stark Gene: golga2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.41 GOLGA2 Zornitza Stark Classified gene: GOLGA2 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.41 GOLGA2 Zornitza Stark Gene: golga2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.40 FHL1 Zornitza Stark Marked gene: FHL1 as ready
Muscular dystrophy and myopathy_Paediatric v0.40 FHL1 Zornitza Stark Gene: fhl1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.40 FHL1 Zornitza Stark Classified gene: FHL1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.40 FHL1 Zornitza Stark Gene: fhl1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.39 PLEC Zornitza Stark reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Muscular dystrophy and myopathy_Paediatric v0.39 PLEC Zornitza Stark Marked gene: PLEC as ready
Muscular dystrophy and myopathy_Paediatric v0.39 PLEC Zornitza Stark Gene: plec has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.39 PLEC Zornitza Stark Classified gene: PLEC as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.39 PLEC Zornitza Stark Gene: plec has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.38 EMD Zornitza Stark Marked gene: EMD as ready
Muscular dystrophy and myopathy_Paediatric v0.38 EMD Zornitza Stark Gene: emd has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.38 EMD Zornitza Stark Classified gene: EMD as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.38 EMD Zornitza Stark Gene: emd has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.37 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Muscular dystrophy and myopathy_Paediatric v0.37 RYR1 Zornitza Stark Gene: ryr1 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.37 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from to Central core disease (MIM#117000); Minicore myopathy with external ophthalmoplegia (MIM#255320); Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000)
Muscular dystrophy and myopathy_Paediatric v0.36 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Muscular dystrophy and myopathy_Paediatric v0.35 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.34 RYR1 Zornitza Stark Classified gene: RYR1 as Red List (low evidence)
Muscular dystrophy and myopathy_Paediatric v0.34 RYR1 Zornitza Stark Gene: ryr1 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.33 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Muscular dystrophy and myopathy_Paediatric v0.33 SIL1 Zornitza Stark Marked gene: SIL1 as ready
Muscular dystrophy and myopathy_Paediatric v0.33 SIL1 Zornitza Stark Gene: sil1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.33 SIL1 Zornitza Stark Classified gene: SIL1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.33 SIL1 Zornitza Stark Gene: sil1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.32 SIL1 Zornitza Stark reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Muscular dystrophy and myopathy_Paediatric v0.32 TCAP Zornitza Stark Marked gene: TCAP as ready
Muscular dystrophy and myopathy_Paediatric v0.32 TCAP Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.32 TCAP Zornitza Stark Phenotypes for gene: TCAP were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954)
Muscular dystrophy and myopathy_Paediatric v0.31 TCAP Zornitza Stark Publications for gene: TCAP were set to
Muscular dystrophy and myopathy_Paediatric v0.30 TCAP Zornitza Stark Mode of inheritance for gene: TCAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.29 TCAP Zornitza Stark Classified gene: TCAP as Red List (low evidence)
Muscular dystrophy and myopathy_Paediatric v0.29 TCAP Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.28 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Muscular dystrophy and myopathy_Paediatric v0.28 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.28 TRAPPC11 Zornitza Stark Classified gene: TRAPPC11 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.28 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.27 SGCG Elena Savva gene: SGCG was added
gene: SGCG was added to Muscular dystrophy. Sources: Literature
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCG were set to PMID: 30838351; 25802879
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, autosomal recessive 5 253700
Review for gene: SGCG was set to AMBER
Added comment: PMID: 30838351 - 7 patients with childhood onset limb girdle MD and biallelic variants. Muscle biopsy supported the diagnosis. Mild proximal muscle weakness and increased serum creatine kinase levels

PMID: 25802879 - 2 unrelated patients with a founder missense variant (p.E263K). Patients had childhood onset, with proximal muscle weakness in pelvic girdle muscles and highly elevated CK levels.

Summary: Childhood onset limb girdle rather than muscular dystrophy
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.27 CAPN3 Elena Savva gene: CAPN3 was added
gene: CAPN3 was added to Muscular dystrophy. Sources: Literature
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN3 were set to PMID: 31937337
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, autosomal recessive 1 253600
Review for gene: CAPN3 was set to GREEN
Added comment: PMID: 31937337 - 15 families with limb girdle muscular dystrophy. 13/15 report childhood onset in multiple affected children, where EMG confirmed a myopathic disorder, with mild-severe dystrophic changes.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.27 GOSR2 Elena Savva reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30363482, 29855340; Phenotypes: Epilepsy, progressive myoclonic 6 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.27 GOSR2 Elena Savva Deleted their review
Muscular dystrophy and myopathy_Paediatric v0.27 GOSR2 Elena Savva gene: GOSR2 was added
gene: GOSR2 was added to Muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOSR2 were set to PMID: 30363482; 29855340
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6 614018
Added comment: PMID: 30363482 - 1 chet patient, no mention of myopathy or muscular dystrophy. Patient had a missense and inframe deletion of a single amino acid.

PMID: 29855340 - 1 chet family (2 siblings) with neonatal hypotonia, muscle weaknes and elevated CK levels. One sibling died before genotyping, the other was found to be chet for a missense/start loss variant. Patient had dystrophic muscle biopsy with hypoglycosylation of α-dystroglycan
Paper reviews other patients and notes muscle histology and EMG were normal, no specific abnormalities reported (most carried recurring variant p.Gly144Trp).

Summary: single report of muscular dystrophy but only report of a start loss variant. All others are of an inframe deletion or the recurring missense.
Sources: Expert list
Muscular dystrophy and myopathy_Paediatric v0.27 MSTO1 Crystle Lee gene: MSTO1 was added
gene: MSTO1 was added to Muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 28554942; 28544275; 31604776
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia (MIM#617675)
Review for gene: MSTO1 was set to GREEN
Added comment: >5 families reported. Early onset, elevated CK levels and myopathic patterns on EMG reported in almost all patients. Primarily a recessive disorder. Limited evidence supporting AD inheritance, which was reported in one family where CK levels were normal and age of onset was later.

PMID: 31604776: One patient reported. Provides review of previously published MSTO1 families.
Sources: Expert Review
Muscular dystrophy and myopathy_Paediatric v0.27 GOLGA2 Elena Savva gene: GOLGA2 was added
gene: GOLGA2 was added to Muscular dystrophy. Sources: Literature
Mode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOLGA2 were set to PMID: 30237576; 26742501
Phenotypes for gene: GOLGA2 were set to Neuromuscular disorder
Review for gene: GOLGA2 was set to AMBER
Added comment: PMID: 30237576 - One 11 year old patient with a homozygous PTC.
Patient had global dev delay, microcephaly, distal muscle weakness with joint contractures and elevated CK levels. Muscle biopsy showed dystrophin changes. MRI at 2 years old showed brain atrophy with thin corpus callosum and hypomyelination. No seizures or regression.

PMID: 26742501 - One infant with a homozygous PTC.
Patient had dev delay, seizures, microcephaly and muscular dystrophy. Zebrafish null model recapitulates the human phenotype with microcephaly and skeletal muscle disorganization.

Summary: 2 patients + animal model
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.27 FHL1 Elena Savva gene: FHL1 was added
gene: FHL1 was added to Muscular dystrophy. Sources: Expert list
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)
Publications for gene: FHL1 were set to PMID: 19181672; 19171836
Phenotypes for gene: FHL1 were set to Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717
Review for gene: FHL1 was set to AMBER
Added comment: XLD, severe progressive myopathy with onset in infancy.

PMID: 19181672 - 11 patients (9 families) with reducing body myopathy. All patients had progressive muscle weakness with 7/11 having onset <5 years old. Majority had proximal muscle weakness with elevated CK levels. Authors note "we would be hesitant to use the term dystrophic for this myopathy as the mechanisms of cell damage remain to be fully worked out"
p.His123 is a hotspot with recurring de novo missense mutations at this residue.

PMID: 19171836 - 5 patients with reducing body myopathy, 2/5 had fatal infantile forms of disease.

Summary: congenital onset has been found, however unsure if this qualifies as a dystrophy or only myopathy
Sources: Expert list
Muscular dystrophy and myopathy_Paediatric v0.27 PLEC Crystle Lee gene: PLEC was added
gene: PLEC was added to Muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEC were set to 20624679; 21109228; 28824526
Phenotypes for gene: PLEC were set to Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723)
Added comment: Onset in early childhood (OMIM).

PMID: 20624679: Reported 1 patient with congenital muscular dystrophy, hypotonia and elevated CK.

PMID: 21109228: Same homozygous variant affecting isoform 1f reported in 3 families. 2 affected members of one family reported as having early onset LMGD. Authors note that PLEC is usually associated with late-onset progressive muscle dystrophy.

PMID: 28824526: 1 patient reported with early childhood onset. Variant affects isoform 1f.


Rated GREEN in CMD (PanelApp UK)
Sources: Expert Review
Muscular dystrophy and myopathy_Paediatric v0.27 EMD Elena Savva gene: EMD was added
gene: EMD was added to Muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EMD were set to PMID: 21697856; 31802929
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Review for gene: EMD was set to GREEN
Added comment: PMID: 21697856 - 21 male patients with EM muscular dystrophy. Age of onset not well reported, only age at diagnosis. Youngest patient was 5 days old but asymptomatic, eldest was 55 years.
Of those with age of onset reported, 3 had progressive muscle weakness onset from neonatal-5 years.

PMID: 31802929 - 1 family (9 affected males) with elevated CK levels and mild skeletal muscular dystrophy. Youngest affected was 7 years old

PMID: 31645980 - 1 patient with difficulty moving his limb girdle and cervical vertebrae from 5 years old.

Summary: childhood onset reported
Sources: Expert list
Muscular dystrophy and myopathy_Paediatric v0.27 TCAP Crystle Lee Deleted their comment
Muscular dystrophy and myopathy_Paediatric v0.27 TCAP Crystle Lee edited their review of gene: TCAP: Added comment: >3 variants/families reported. Mean age at onset 12.5 years (OMIM). More suitable for LGMD panel.

PMID: 25055047: 2 different variants reported in 2 Dravidian families with LGMD, with a predominantly proximo - distal form of weakness. Raised CK levels consistent between all patients reported. Age of onset ranged from 4 - 23.

Abstract (https://doi.org/10.1016/j.nmd.2012.06.100): Same frameshift variant reported in (PMID: 25055047) identified in one adult patient who presented with progressive muscle weakness in his late teenage years. Authors notes this is the 9th family reported with variants in this gene.

PMID: 22029105: 1 adult patient with slowly progressive weakness in the upper and lower limbs reported with onset in early twenties. Elevated CK levels.

PMID: 18948002: Reported one patient who presented at the age of 15 with progressive proximal limb weakness.; Changed rating: RED
Muscular dystrophy and myopathy_Paediatric v0.27 RYR1 Crystle Lee reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23553484; Phenotypes: Central core disease (MIM#117000), Minicore myopathy with external ophthalmoplegia (MIM#255320), Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.27 SIL1 Crystle Lee gene: SIL1 was added
gene: SIL1 was added to Muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIL1 were set to 16282977; 24176978
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome (MIM#248800)
Added comment: Well reported in patients with the associated phenotype. Onset in infancy. Muscle weakness and elevated CK are consistent features of this phenotype. Myopathic changes observed in muscle biopsy.
Sources: Expert Review
Muscular dystrophy and myopathy_Paediatric v0.27 SYNE1 Zornitza Stark changed review comment from: Congenital onset described in at least two families.; to: Congenital onset described in at least two families with bi-allelic variants.
Muscular dystrophy and myopathy_Paediatric v0.27 SYNE1 Zornitza Stark edited their review of gene: SYNE1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.27 SYNE1 Zornitza Stark Mode of inheritance for gene: SYNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.26 SYNE1 Zornitza Stark Marked gene: SYNE1 as ready
Muscular dystrophy and myopathy_Paediatric v0.26 SYNE1 Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.26 SYNE1 Zornitza Stark Phenotypes for gene: SYNE1 were changed from to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Muscular dystrophy and myopathy_Paediatric v0.25 SYNE1 Zornitza Stark Publications for gene: SYNE1 were set to
Muscular dystrophy and myopathy_Paediatric v0.24 SYNE1 Zornitza Stark Mode of inheritance for gene: SYNE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Muscular dystrophy and myopathy_Paediatric v0.23 SYNE1 Zornitza Stark reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27782104, 19542096; Phenotypes: Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998; Mode of inheritance: None
Muscular dystrophy and myopathy_Paediatric v0.23 Zornitza Stark removed gene:ANO5 from the panel
Muscular dystrophy and myopathy_Paediatric v0.22 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Muscular dystrophy and myopathy_Paediatric v0.21 TCAP Crystle Lee reviewed gene: TCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25055047, 22029105, 18948002; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.21 TRAPPC11 Crystle Lee gene: TRAPPC11 was added
gene: TRAPPC11 was added to Muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC11 were set to 23830518; 26322222; 29855340; 30105108
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, autosomal recessive 18 (MIM#615356)
Review for gene: TRAPPC11 was set to GREEN
Added comment: >3 patients reported with variable muscle phenotype (primarily LGMD), which is a significant feature of this multisystemic childhood onset condition. Elevated CK consistent feature.

PMID: 23830518: 2 different variants reported. Patients from one family presented with early onset proximal muscle weakness and raised CK levels. The second family presented with muscle weakness and elevated CK suggestive of myopathy.

PMID: 26322222: Reported childhood onset muscular dystrophy in one patient

PMID: 29855340: 1 patient with biallelic variants in TRAPPC11

PMID: 30105108: 2 siblings with promixal muscle weakness reported. Childhood onset.
Sources: Expert list
Muscular dystrophy and myopathy_Paediatric v0.21 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Muscular dystrophy and myopathy_Paediatric v0.21 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.21 COL4A2 Zornitza Stark Classified gene: COL4A2 as Red List (low evidence)
Muscular dystrophy and myopathy_Paediatric v0.21 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.20 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from ?Retinal arteries, tortuosity of MIM#180000; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564 to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564
Muscular dystrophy and myopathy_Paediatric v0.19 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to 23065703; 20818663
Muscular dystrophy and myopathy_Paediatric v0.18 COL4A1 Zornitza Stark Classified gene: COL4A1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.18 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.17 CAVIN1 Zornitza Stark Publications for gene: CAVIN1 were set to
Muscular dystrophy and myopathy_Paediatric v0.16 CAVIN1 Zornitza Stark edited their review of gene: CAVIN1: Changed publications: 19726876, 12116229
Muscular dystrophy and myopathy_Paediatric v0.16 ANO5 Zornitza Stark Marked gene: ANO5 as ready
Muscular dystrophy and myopathy_Paediatric v0.16 ANO5 Zornitza Stark Gene: ano5 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.16 ANO5 Zornitza Stark Classified gene: ANO5 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.16 ANO5 Zornitza Stark Gene: ano5 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.15 COL4A2 Elena Savva gene: COL4A2 was added
gene: COL4A2 was added to Muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL4A2 were set to PMID: 25719457; 30315939
Phenotypes for gene: COL4A2 were set to Brain small vessel disease 2 614483
Penetrance for gene: COL4A2 were set to Incomplete
Mode of pathogenicity for gene: COL4A2 was set to Other
Review for gene: COL4A2 was set to RED
Added comment: OMIM reports - Variable severity - Incomplete penetrance

PMID: 25719457 - 0/15 heterozygous carriers report any myopathy phenotype. Majority had porencephaly or periventricular leukoencephalopathy.

PMID: 30315939 - two patients with schizencephaly and/or polymicrogyria. Authors specifically noted myopathy was not observed in any patient, one was reported to have normal CK levels.

Both LOF and dominant negative are suggested mechanisms for this gene.
Sources: Expert list
Muscular dystrophy and myopathy_Paediatric v0.15 COL4A1 Elena Savva reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25719457, 21625620, 23225343; Phenotypes: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 618564, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Muscular dystrophy and myopathy_Paediatric v0.15 ANO5 Elena Savva gene: ANO5 was added
gene: ANO5 was added to Muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO5 were set to PMID: 20096397; 32399949
Phenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, autosomal recessive 12 611307
Penetrance for gene: ANO5 were set to unknown
Review for gene: ANO5 was set to GREEN
Added comment: PMID: 20096397 - 5 families (12 patients) with either proximal limb girdle muscular dystrophy (3/5) or distal miyoshi myopathy (2/5). No obvious genotype-phenotype correlation, homozygous PTCs reported to cause both conditions. Age of onset >30 years old.

PMID: 32399949 - 3 patients with biallelic variants. All are carriers of the common c.191dupA variant with a missense in trans. 1/3 has limb girdle muscular dystrophy, all patients have onset >30 years old
Sources: Expert list
Muscular dystrophy and myopathy_Paediatric v0.15 CAVIN1 Zornitza Stark Marked gene: CAVIN1 as ready
Muscular dystrophy and myopathy_Paediatric v0.15 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.15 CAVIN1 Zornitza Stark Classified gene: CAVIN1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.15 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.14 CAVIN1 Zornitza Stark gene: CAVIN1 was added
gene: CAVIN1 was added to Muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4 (MIM#613327)
Review for gene: CAVIN1 was set to GREEN
Added comment: Gene also known as PTRF. Multiple families reported with onset of disease in childhood, muscular dystrophy is a feature.
Sources: Expert list
Muscular dystrophy and myopathy_Paediatric v0.13 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Muscular dystrophy and myopathy_Paediatric v0.13 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.13 TOR1AIP1 Zornitza Stark Classified gene: TOR1AIP1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.13 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.12 TOR1AIP1 Zornitza Stark gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Muscular dystrophy. Sources: Literature
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937; 32055997
Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness; Contractures
Review for gene: TOR1AIP1 was set to GREEN
Added comment: Multiple families reported but highly variable phenotype; muscular dystrophy reported frequently.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.11 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.11 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark changed review comment from: Two families reported.; to: Two families reported and two animal models.
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark edited their review of gene: B4GAT1: Changed rating: GREEN; Changed publications: 23359570, 23877401, 23359570, 23217742
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Muscular dystrophy and myopathy_Paediatric v0.9 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Muscular dystrophy and myopathy_Paediatric v0.8 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.7 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.7 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.6 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.6 DMD Crystle Lee reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Duchenne muscular dystrophy (MIM#310200), Becker muscular dystrophy (MIM#300376); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Muscular dystrophy and myopathy_Paediatric v0.6 Zornitza Stark Panel name changed from Muscular dystrophy_VCGS to Muscular dystrophy
Panel types changed to Victorian Clinical Genetics Services
Muscular dystrophy and myopathy_Paediatric v0.5 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Muscular dystrophy and myopathy_Paediatric v0.5 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.5 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to ?Retinal arteries, tortuosity of MIM#180000; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564
Muscular dystrophy and myopathy_Paediatric v0.4 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to
Muscular dystrophy and myopathy_Paediatric v0.3 COL4A1 Zornitza Stark Mode of pathogenicity for gene: COL4A1 was changed from to Other
Muscular dystrophy and myopathy_Paediatric v0.2 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Muscular dystrophy and myopathy_Paediatric v0.1 COL4A1 Chern Lim reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23065703, 20818663; Phenotypes: ?Retinal arteries, tortuosity of MIM#180000, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773, Brain small vessel disease with or without ocular anomalies MIM#175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Muscular dystrophy and myopathy_Paediatric v0.1 B3GNT2 Zornitza Stark Marked gene: B3GNT2 as ready
Muscular dystrophy and myopathy_Paediatric v0.1 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.1 B3GNT2 Zornitza Stark Classified gene: B3GNT2 as Red List (low evidence)
Muscular dystrophy and myopathy_Paediatric v0.1 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.0 B3GNT2 Zornitza Stark reviewed gene: B3GNT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Muscular dystrophy and myopathy_Paediatric v0.0 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCAP was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 SYNE1 Zornitza Stark gene: SYNE1 was added
gene: SYNE1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYNE1 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 SELENON Zornitza Stark gene: SELENON was added
gene: SELENON was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SELENON was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RYR1 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM5 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT2 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT1 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMK was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMGNT2 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMGNT1 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 MICU1 Zornitza Stark gene: MICU1 was added
gene: MICU1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MICU1 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMNA was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LARGE1 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMA2 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 ITGA7 Zornitza Stark gene: ITGA7 was added
gene: ITGA7 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGA7 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ISPD was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 INPP5K Zornitza Stark gene: INPP5K was added
gene: INPP5K was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INPP5K was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GMPPB was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKTN was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKRP was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 DYSF Zornitza Stark gene: DYSF was added
gene: DYSF was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DYSF was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 DPM3 Zornitza Stark gene: DPM3 was added
gene: DPM3 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DPM3 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 DPM2 Zornitza Stark gene: DPM2 was added
gene: DPM2 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DPM2 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 DPM1 Zornitza Stark gene: DPM1 was added
gene: DPM1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DPM1 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DOLK was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 DNAJB6 Zornitza Stark gene: DNAJB6 was added
gene: DNAJB6 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAJB6 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DMD was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 DAG1 Zornitza Stark gene: DAG1 was added
gene: DAG1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DAG1 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL6A3 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL6A2 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 COL6A1 Zornitza Stark gene: COL6A1 was added
gene: COL6A1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL6A1 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A1 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 COL12A1 Zornitza Stark gene: COL12A1 was added
gene: COL12A1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL12A1 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHKB was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 B4GAT1 Zornitza Stark gene: B4GAT1 was added
gene: B4GAT1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B4GAT1 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 B3GNT2 Zornitza Stark gene: B3GNT2 was added
gene: B3GNT2 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GNT2 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 B3GALNT2 Zornitza Stark gene: B3GALNT2 was added
gene: B3GALNT2 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GALNT2 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACTA1 was set to Unknown
Muscular dystrophy and myopathy_Paediatric v0.0 Zornitza Stark Added panel Muscular dystrophy_VCGS