Genomics England

RNASEH2C

ribonuclease H2 subunit C

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 3, 610329
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 3, 610329
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AICARDI-GOUTIERES SYNDROME 3 610329
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 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 3, 610329
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AICARDI-GOUTIERES SYNDROME 3
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 3, 610329, AICARDI-GOUTIERES SYNDROME 3
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 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Intellectual disability, (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3, Intracerebral calcification disorders, Inherited white matter disorders
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 6.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 3 610329, Type 1 interferonopathies, Classical AGS, Autoinflammatory Disorders
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres Syndrome 3, Aicardi-Goutieres Syndrome, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Aicardi-Goutieres syndrome 3