Dilated and arrhythmogenic cardiomyopathy
Gene: TBX5
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.Created: 30 Jan 2023, 2:04 p.m. | Last Modified: 30 Jan 2023, 2:04 p.m.
Panel Version: 2.4
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.Created: 15 Apr 2021, 10:33 a.m. | Last Modified: 15 Apr 2021, 10:33 a.m.
Panel Version: 1.15
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: LiteratureCreated: 5 Oct 2020, 9:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: TBX5.
Gene: tbx5 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: TBX5.
Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome, 142900; Dilated cardiomyopathy to Holt-Oram syndrome, OMIM:142900; Dilated cardiomyopathy
Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy to Holt-Oram syndrome, 142900; Dilated cardiomyopathy
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