Muscular dystrophy and myopathy_Paediatric
Gene: DHX16EnsemblGeneIds (GRCh38): ENSG00000204560
EnsemblGeneIds (GRCh37): ENSG00000204560
OMIM: 603405, Gene2Phenotype
DHX16 is in 3 panels
3 reviews
Belinda Chong (Victorian Clinical Genetics Services)
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
Sangavi Sivagnanasundram (Melbourne Health)
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733
- MONDO:0032890)
- OMIM
- 603405
- Clinvar variants
- Variants in DHX16
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Seb Lunke (Victorian Clinical Genetics Services)Publications for gene: DHX16 were set to 36211162
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: dhx16 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dhx16 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dhx16 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)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