CHCHD10

coiled-coil-helix-coiled-coil-helix domain containing 10
OMIM: 615903, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red CHCHD10 in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.84	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Red CHCHD10 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Red CHCHD10 in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, OMIM:615911 Spinal muscular atrophy, Jokela type, OMIM:615048 Tags adult-onset
Green CHCHD10 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green London North GLH NHS GMS South West GLH Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209
Green CHCHD10 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Spinal muscular atrophy, Jokela type
Green CHCHD10 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 Spinal muscular atrophy, Jokela type
Green CHCHD10 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Spinal muscular atrophy, Jokela type 615048 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Red CHCHD10 in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.74	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Green CHCHD10 in Paediatric motor neuronopathies Level 2: Neurology Version 3.12 Latest signed off version: v3.9 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, Jokela type, OMIM:615048
Green CHCHD10 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH NHS GMS London North GLH Expert Review Green Expert Review Phenotypes Spinal muscular atrophy, Jokela type: 615048
Green CHCHD10 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Spinal muscular atrophy, Jokela type
Green CHCHD10 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green South West GLH London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Spinal muscular atrophy, Jokela type: 615048
Red CHCHD10 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH