Genomics England
GMS Panels
Panels
Genes and Entities

CHCHD10

coiled-coil-helix-coiled-coil-helix domain containing 10
OMIM: 615903
PanelMode of inheritanceDetails
6 panels
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
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:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
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:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
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 Paediatric motor neuronopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.8
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 3.105
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