C19orf12

chromosome 19 open reading frame 12
OMIM: 614297
PanelMode of inheritanceDetails
7 panels
R-numbers: R56
Signed-off version 3.19
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: R60
Signed-off version 4.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive, OMIM:615043, Neurodegeneration with brain iron accumulation 4, OMIM: 614298
R-numbers: R58
Signed-off version 5.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive, OMIM:615043, Neurodegeneration with brain iron accumulation 4, OMIM: 614298
R-numbers: R57
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive, OMIM:615043, Neurodegeneration with brain iron accumulation 4, OMIM: 614298
R-numbers: R61
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive, OMIM:615043, Neurodegeneration with brain iron accumulation 4, OMIM: 614298
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 5.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive, OMIM:615043, Neurodegeneration with brain iron accumulation 4, OMIM: 614298
R-numbers: R41
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive, OMIM:615043, Neurodegeneration with brain iron accumulation 4, OMIM: 614298