Genomics England

SSBP1

single stranded DNA binding protein 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Likely inborn error of metabolism 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 Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Optic atrophy 13 with retinal and foveal abnormalities OMIM:165510
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Green in Retinal disorders R-numbers: R32 Signed-off version 5.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510