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| Cardiomyopathy_Paediatric v1.69 | TREX1 | Lucy Spencer Classified gene: TREX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.69 | TREX1 | Lucy Spencer Gene: trex1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.68 | TREX1 |
Lucy Spencer gene: TREX1 was added gene: TREX1 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TREX1 were set to 25604658; 36581356 Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750 Review for gene: TREX1 was set to GREEN Added comment: PMID: 25604658 infantile onset hypertrophic cardiomyopathy reported in 9/79 individuals with TREX1 related Aicardi-Goutieres syndrome. This paper includes both recessive and dominant TREX1 patients, it is unclear which have HCM. PMID 36581356 reports one proband with Aicardi-Goutieres syndrome diagnosed with cardiomyopathy in utero. The proband was homozygous for a TREX1 frameshift variant. Sources: Literature |
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