Dilated cardiomyopathy - adult and teen

Gene: TBX5

Amber List (moderate evidence)

TBX5 (T-box 5)
EnsemblGeneIds (GRCh38): ENSG00000089225
EnsemblGeneIds (GRCh37): ENSG00000089225
OMIM: 601620, Gene2Phenotype
TBX5 is in 12 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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
Created: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Holt-Oram syndrome, OMIM:142900
  • Dilated cardiomyopathy
Tags
Q2_21_rating
OMIM
601620
Clinvar variants
Variants in TBX5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tbx5 has been classified as Amber List (Moderate Evidence).

15 Apr 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: TBX5.

14 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome, 142900; Dilated cardiomyopathy to Holt-Oram syndrome, OMIM:142900; Dilated cardiomyopathy

6 Oct 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy to Holt-Oram syndrome, 142900; Dilated cardiomyopathy

5 Oct 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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