Genomics England

RNASEH2A

ribonuclease H2 subunit A

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AICARDI-GOUTIERES SYNDROME 4 610333
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 Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 4, 610333
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AICARDI-GOUTIERES SYNDROME 4
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 4, 610333, AICARDI-GOUTIERES SYNDROME 4
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 4, 610333
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Intellectual disability, Intracerebral calcification disorders, (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4, Inherited white matter disorders
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 9.91	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 4 610333, Lupus, Type 1 interferonopathies, Classical AGS, Autoinflammatory Disorders
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 4, Aicardi-Goutieres Syndrome, General Leukodystrophy & Mitochondrial Leukoencephalopathy