| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 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 v0.128 | 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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