Genomics England

SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Cerebral vascular malformations R-numbers: R336 Signed-off version 5.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Moyamoya disease, MONDO:0016820
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AICARDI-GOUTIERES SYNDROME 239588
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 5, 612952
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 5, 612952, seizures
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AICARDI-GOUTIERES SYNDROME
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
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 5, 612952
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 (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5, Aicardi-Goutieres syndrome-5 (AGS5), Aicardi-Goutieres syndrome 5, 612952
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 5 612952, Type 1 interferonopathies, Classical AGS, FCL, Autoinflammatory Disorders
Green in Rare genetic inflammatory skin disorders R-numbers: R332 Signed-off version 4.25	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes ?Chilblain lupus 2, OMIM:614415, AICARDI-GOUTIERES SYNDROME 5, OMIM:612952
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, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Aicardi-Goutieres syndrome