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| Severe Paediatric Disorders v0.12 | TREX1 | Louise Daugherty reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | TREX1 | Louise Daugherty Publications for gene TREX1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | TREX1 | Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TREX1 | Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TREX1 | Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TREX1 | Louise Daugherty Added phenotypes Chilblain lupus, 610448; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TREX1 |
Louise Daugherty Mode of inheritance for gene TREX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1 |
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| Severe Paediatric Disorders v0.7 | TREX1 | Louise Daugherty Source Next Generation Children Project was added to TREX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | TREX1 |
Louise Daugherty Source Expert Review Green was added to TREX1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | TREX1 |
Louise Daugherty gene: TREX1 was added gene: TREX1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TREX1 was set to |
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