CHCHD10

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

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 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 1.83	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Green CHCHD10 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Spinal muscular atrophy, Jokela type 615048 ?Myopathy, isolated mitochondrial, autosomal dominant 616209 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911
Red CHCHD10 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	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 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.37 Latest signed off version: v4.0 (22 Mar 2023) 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 Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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 1.617	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 - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	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 1.69	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 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 3.6 Latest signed off version: v3.3 (22 Mar 2023) 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 1.477	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 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) 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 Version 3.94 Latest signed off version: v3.24 (15 May 2023)	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 Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green CHCHD10 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 Spinal muscular atrophy, Jokela type, 615048 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911