C19orf12

chromosome 19 open reading frame 12
OMIM: 614297
PanelMode of inheritanceDetails
7 panels
R-numbers: R56
Signed-off version 1.121
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive OMIM:615043, hereditary spastic paraplegia 43 MONDO:0014024, Neurodegeneration with brain iron accumulation 4 OMIM:614298, neurodegeneration with brain iron accumulation 4 MONDO:0013674
R-numbers: R57
Signed-off version 1.137
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
neurodegeneration with brain iron accumulation-4, 614298, mitochondrial membrane protein-associated neurodegeneration, Dystonia
R-numbers: R60
Signed-off version 1.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 43, autosomal recessive, 615043, Neurodegeneration with brain iron accumulation 4, 614298
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 43, autosomal recessive, 615043, Neurodegeneration with brain iron accumulation 4, 614298
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
Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism), Neurodegeneration with brain iron accumulation 4, 614298, Mitochondrial Membrane Protein-Associated Neurodegeneration
R-numbers: R58
Signed-off version 2.178
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, neurodegeneration with brain iron accumulation-4, OMIM:614298
R-numbers: R41, R42.2
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, 615043, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, 614298