Genomics England

CHCHD10

coiled-coil-helix-coiled-coil-helix domain containing 10

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.30	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinal muscular atrophy, Jokela type: 615048
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, ?Myopathy, isolated mitochondrial, autosomal dominant, 616209, Spinal muscular atrophy, Jokela type
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela type
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209
Green in Paediatric motor neuronopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinal muscular atrophy, Jokela type, OMIM:615048
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spinal muscular atrophy, Jokela type 615048, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911, ?Myopathy, isolated mitochondrial, autosomal dominant, 616209