CHCHD10

coiled-coil-helix-coiled-coil-helix domain containing 10
OMIM: 615903
PanelMode of inheritanceDetails
6 panels
R-numbers: R78
Signed-off version 1.36
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinal muscular atrophy, Jokela type: 615048
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
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
R-numbers: R58
Signed-off version 2.178
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.30
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinal muscular atrophy, Jokela type 615048
R-numbers: R63
Signed-off version 1.17
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