Congenital muscular dystrophy and congenital myopathy

Gene: DHX16

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.

Created: 15 Sep 2020, 2:28 p.m. | Last Modified: 15 Sep 2020, 2:28 p.m.

Panel Version: 2.6

I don't know

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

Created: 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

• 31256877

Variants in this GENE are reported as part of current diagnostic practice