Genomics England

C19orf12

chromosome 19 open reading frame 12

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.12	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 Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 3.21	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 Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 4.41	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 Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.56	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 Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 4.28	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 - targeted testing not possible 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 4.78	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 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