Genomics England
GMS Panels
Panels
Genes and Entities

C19orf12

chromosome 19 open reading frame 12
OMIM: 614297
PanelMode of inheritanceDetails
7 panels
Green
in Dystonia, chorea or related movement disorder, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.7
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
Green
in Dystonia, chorea or related movement disorder, childhood onset
R-numbers: R57
Signed-off version 8.13
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive, OMIM:615043, Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green
in Hereditary spastic paraplegia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.13
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive, OMIM:615043, Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green
in Hereditary spastic paraplegia, childhood onset
R-numbers: R61
Signed-off version 9.7
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive, OMIM:615043, Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive, OMIM:615043, Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive, OMIM:615043, Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 6.46
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive, OMIM:615043, Neurodegeneration with brain iron accumulation 4, OMIM: 614298