Genomics England

RNASEH2B

ribonuclease H2 subunit B

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 2, OMIM:61018
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AICARDI-GOUTIERES SYNDROME 2 610181
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181
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	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181
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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181
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 Aicardi-Goutieres syndrome 2, OMIM:610181