Muscular dystrophy and myopathy_Paediatric

Gene: DHX16

Green List (high evidence)

DHX16 (DEAH-box helicase 16)
EnsemblGeneIds (GRCh38): ENSG00000204560
EnsemblGeneIds (GRCh37): ENSG00000204560
OMIM: 603405, Gene2Phenotype
DHX16 is in 3 panels

3 reviews

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

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)

Red List (low evidence)

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: Other
Created: 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)

I don't know

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: Literature
Created: 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

7 Sep 2023, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: DHX16 were set to 36211162

7 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: dhx16 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dhx16 has been classified as Red List (Low Evidence).

1 Jun 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dhx16 has been classified as Red List (Low Evidence).

8 May 2023, Gel status: 0

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