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| Congenital myopathy v3.33 | DHX16 | Arina Puzriakova Phenotypes for gene: DHX16 were changed from Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733 to Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.6 | DHX16 | Sarah Leigh Classified gene: DHX16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.6 | DHX16 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for Intellectual Disability, Central Nervous System anomalies and Seizures. At least 4 variants reported as de novo heterozygous variants in 4 unrelated probands as a result of trio exome sequencing. No functional studies were reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.6 | DHX16 | Sarah Leigh Gene: dhx16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.5 | DHX16 |
Zornitza Stark gene: DHX16 was added gene: DHX16 was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DHX16 were set to 31256877 Phenotypes for gene: DHX16 were set to Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733 Review for gene: DHX16 was set to AMBER gene: DHX16 was marked as current diagnostic Added comment: This gene is somewhat difficult to place on the right panels. Overall, there are four unrelated individuals reported with de novo missense variants. Three of the individuals died in infancy, so phenotypic information is limited, though hypotonia was prominent. Two had seizures. Individual with long-term survival had a progressive course, evidence of neuropathy, myopathy, loss of hearing and vision, and normal IQ. Sources: Literature |
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