GT/TP identifiers for the NHSE Digital Genomic Test Service are temporarily visible in PanelApp but are not yet in use in Genomics England systems

DHX16

DEAH-box helicase 16
OMIM: 603405, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber DHX16 in Congenital myopathy Level 2: Neurology Version 7.80 Latest signed off version: v7.77 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 neuromuscular disease and ocular or auditory anomalies with or without seizures, MONDO:0032890 Tags Q3_26_promote_green
Red DHX16 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Intellectual Disability, Central Nervous System anomalies and Seizures
Amber DHX16 in Monogenic hearing loss Level 2: Audiology Version 6.42 Latest signed off version: v6.34 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 neuromuscular disease and ocular or auditory anomalies with or without seizures, MONDO:0032890 Tags Q3_26_promote_green
Amber DHX16 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.72 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 neuromuscular disease and ocular or auditory anomalies with or without seizures, MONDO:0032890 Tags Q3_26_promote_green
Amber DHX16 in Retinal disorders Level 2: Ophthalmology Version 9.19 Latest signed off version: v9.14 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 neuromuscular disease and ocular or auditory anomalies with or without seizures, MONDO:0032890 Tags Q3_26_promote_green