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| Dilated and arrhythmogenic cardiomyopathy v2.4 | TBX5 | Arina Puzriakova Tag Q2_21_rating was removed from gene: TBX5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.4 | TBX5 | Arina Puzriakova reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.15 | TBX5 | Ivone Leong Classified gene: TBX5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.15 | TBX5 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.15 | TBX5 | Ivone Leong Gene: tbx5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.14 | TBX5 | Ivone Leong Tag Q2_21_rating tag was added to gene: TBX5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.14 | TBX5 | Ivone Leong Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome, 142900; Dilated cardiomyopathy to Holt-Oram syndrome, OMIM:142900; Dilated cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.6 | TBX5 | Ivone Leong Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy to Holt-Oram syndrome, 142900; Dilated cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.5 | TBX5 |
Zornitza Stark gene: TBX5 was added gene: TBX5 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBX5 were set to 32449309; 32236096; 25963046; 25725155 Phenotypes for gene: TBX5 were set to Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy Review for gene: TBX5 was set to GREEN gene: TBX5 was marked as current diagnostic Added comment: 8 individuals from 4 unrelated families reported in PMID 32449309, relatively mild skeletal manifestations of HOS and DCM a prominent feature in several. Note previous reports, and supportive mouse model. Sources: Literature |
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