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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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