Genomics England

POLR3B

RNA polymerase III subunit B

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381, POLR3B-related neurodevelopmental disorder, Ataxia, spasticity, and demyelinating neuropathy
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Autosomal recessive mental retardation, Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, POLR3B-related neurodevelopmental disorder
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes POLR3B-related neurodevelopmental disorder, Ataxia, spasticity, and demyelinating neuropathy
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381, POLR3B-related neurodevelopmental disorder, Ataxia, spasticity, and demyelinating neuropathy
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381