Paediatric or syndromic cardiomyopathy
Gene: TAF1A

TAF1A (TATA-box binding protein associated factor, RNA polymerase I subunit A)
EnsemblGeneIds (GRCh38): ENSG00000143498
EnsemblGeneIds (GRCh37): ENSG00000143498
OMIM: 604903, Gene2Phenotype
TAF1A is in 2 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 11:50 a.m. | Last Modified: 24 Feb 2025, 11:50 a.m.

Panel Version: 6.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 11:50 a.m.
Last Modified: 24 Feb 2025, 11:50 a.m.
Panel version: 6.7

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: PMID: 27878435 reports Congenital cataract and global developmental delay
Created: 13 Aug 2024, 12:29 p.m. | Last Modified: 13 Aug 2024, 12:29 p.m.

Panel Version: 5.8

Biallelic TAF1A variants have been associated with dilated cardiomyopathy. To date, five missense TAF1A variants and a 1.62Mb deletion (that includes the TAF1A gene) have been reported in three unrelated cases of childhood dilated cardiomyopathy (PMIDs 28472305; 29367541; 37501913, personal communication from Genomics Clinical Fellow). The unaffected parents of these cases were all heterozygous for the relevant TAF1A variant. A stable knockout of the single taf1a zebrafish homolog, was used to generate homozygous embryos, which mirrored the heart failure phenotype beginning at 6 days post-fertilization (PMID: 28472305).
Created: 13 Aug 2024, 12:25 p.m. | Last Modified: 13 Aug 2024, 12:25 p.m.

Panel Version: 5.7

Comment on publications: The case reported in PMID: 37501913, seems to be the same patient that has been reported in an abstract from from the International Clinical Cardiovascular Genetics Meeting, 12-13 May 2022, Brisbane, Australia: https://doi.org/10.1016/j.hlc.2022.04.018
Created: 13 Aug 2024, 10:10 a.m. | Last Modified: 13 Aug 2024, 11:46 a.m.

Panel Version: 5.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Aug 2024, 10:10 a.m.
Last Modified: 13 Aug 2024, 11:46 a.m.
Panel version: 5.7

Ivone Leong (Genomics England Curator)

Red List (low evidence)

TAF1A is not associated with any phenotype on OMIM or Gene2Phenotype. PMID: 27878435 reported a consanguineous family with congenital cataract and global developmental delay where affected members had a small deletion variant that caused a premature stop site. There is currently not enough evidence for this gene to be rated green.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.

Panel Version: 1.32

Publications

27878435

Created: 28 Aug 2019, 3:43 p.m.
Last Modified: 28 Aug 2019, 3:43 p.m.
Copied from panel: Bilateral congenital or childhood onset cataracts v5.1

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Literature

Phenotypes

Paediatric dilated cardiomyopathy

Tags

gene-checked

OMIM

604903

Clinvar variants

Variants in TAF1A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: TAF1A.

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: TAF1A. Tag Q3_24_NHS_review was removed from gene: TAF1A.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to TAF1A. Source Expert Review Green was added to TAF1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Aug 2024, Gel status: 2