Congenital Heart Defect
Gene: TAF1EnsemblGeneIds (GRCh38): ENSG00000147133
EnsemblGeneIds (GRCh37): ENSG00000147133
OMIM: 313650, Gene2Phenotype
TAF1 is in 9 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
-Carrier females consistently shown to be asymptomatic with skewed X-inactivation
-While no PTCs have been reported, the lack of representation in population databases strongly suggests these mutations are not compatible with life (Gudmundsson, S. et al. (2019))
Two patients with hemizygous missense variants, with congenital cardiac disease and global developmental delay
Sources: LiteratureCreated: 19 Oct 2020, 11:06 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dystonia-Parkinsonism, X-linked 314250; Mental retardation, X-linked, syndromic 33 300966; congenital cardiac disease and global developmental delay
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Mental retardation, X-linked, syndromic 33 300966
- congenital cardiac disease and global developmental delay
- OMIM
- 313650
- Clinvar variants
- Variants in TAF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: taf1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TAF1 were changed from Dystonia-Parkinsonism, X-linked 314250; Mental retardation, X-linked, syndromic 33 300966; congenital cardiac disease and global developmental delay to Mental retardation, X-linked, syndromic 33 300966; congenital cardiac disease and global developmental delay
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: taf1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: TAF1 was added gene: TAF1 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAF1 were set to PMID: 32396742; 31646703; 26637982; 31341187 Phenotypes for gene: TAF1 were set to Dystonia-Parkinsonism, X-linked 314250; Mental retardation, X-linked, syndromic 33 300966; congenital cardiac disease and global developmental delay Review for gene: TAF1 was set to AMBER