Congenital myopathy
Gene: DHX16Comment 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.Created: 15 Sep 2020, 2:28 p.m. | Last Modified: 15 Sep 2020, 2:28 p.m.
Panel Version: 2.6
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: LiteratureCreated: 8 Sep 2020, 10:20 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
Gene: dhx16 has been classified as Amber List (Moderate Evidence).
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