MICU1

mitochondrial calcium uptake 1
OMIM: 605084
PanelMode of inheritanceDetails
7 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with extrapyramidal signs, 615673
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with extrapyramidal signs, 615673
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MYOPATHY WITH EXTRAPYRAMIDAL SIGNS 615673
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with extrapyramidal signs 615673
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with extrapyramidal signs 615673
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with extrapyramidal signs, 615673