Genomics England

TREX1

three prime repair exonuclease 1

Panel	Mode of inheritance	Details
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Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 3.23	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315, Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 4.41	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750, Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.56	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315, Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE 225750
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 4.134	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750, seizures, Vasculopathy, retinal, with cerebral leukodystrophy, 192315, {Systemic lupus erythematosus, susceptibility to}, 152700
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750Chilblain lupus, 610448Vasculopathy, retinal, with cerebral leukodystrophy, 192315{Systemic lupus erythematosus, susceptibility to}, 152700, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Intellectual disability, Familial cerebral small vessel disease, Intracerebral calcification disorders, (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1, Inherited white matter disorders
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 4.123	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750, Type 1 interferonopathies, Classical AGS, SLE, FCL, Autoinflammatory Disorders
Green in Rare genetic inflammatory skin disorders R-numbers: R332 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750, Chilblain lupus, OMIM:610448
Green in Retinal disorders R-numbers: R32 Signed-off version 4.42	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.24	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive 225750, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Aicardi-Gouti res syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy, Aicardi-Goutieres syndrome 1, dominant and recessive, Vasculopathy, retinal, with cerebral leukodystrophy 192315