Muscular dystrophy and myopathy_Paediatric
Gene: DHX16
Two additional unrelated individuals reported with de novo missense variants in this gene.
One had Myopathy with isolated necrotic fibers; elevated CK; hypotonia; hyperreflexia; peripheral neuropathy; non-ambulation. The other had hypotonia, severe encephalomyopathy; elevated CK; severe sensorineural hearing impairment; visually impaired. Total of 7 unrelated individuals with de novo missense variants in this gene.Created: 7 Sep 2023, 2:42 a.m. | Last Modified: 7 Sep 2023, 2:42 a.m.
Panel Version: 1.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733; MONDO:0032890)
Publications
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: OtherCreated: 8 May 2023, 3:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733; MONDO:0032890)
Publications
Four unrelated individuals reported with de novo missense variants in this gene. Three of the individuals died in infancy, so phenotypic spectrum difficult to discern, though two were noted to have significant hypotonia. Individual with long-term survival had evidence of myopathy and a progressive course with loss of hearing and vision, and normal IQ.
Sources: LiteratureCreated: 4 Sep 2020, 1:12 a.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
Publications for gene: DHX16 were set to 36211162
Gene: dhx16 has been classified as Green List (High Evidence).
Gene: dhx16 has been classified as Red List (Low Evidence).
Gene: dhx16 has been classified as Red List (Low Evidence).
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