TREX1

three prime repair exonuclease 1
OMIM: 606609
PanelMode of inheritanceDetails
12 panels
R-numbers: R62
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Vasculopathy, retinal, with cerebral leukodystrophy, 192315, Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
R-numbers: R58
Signed-off version 5.0
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
R-numbers: R57
Signed-off version 4.0
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE 225750
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
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
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
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
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 5.0
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
R-numbers: R15
Signed-off version 5.0
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
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
R-numbers: R32
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
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