Repeat Disorders
STR: TOFGRCh37 Position: 19754285-19754330
GRCh38 Position: 19766762-19766807
Repeated Sequence: GCN
Normal Number of Repeats: < 15
Pathogenic Number of Repeats: = or > 25
TBX1 (T-box 1)
EnsemblGeneIds (GRCh38): ENSG00000184058
EnsemblGeneIds (GRCh37): ENSG00000184058
OMIM: 602054, Gene2Phenotype
TBX1 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Poly-alanine tract expansion. In vitro functional assays demonstrated the expansion lead to protein aggregation in cells. Two unrelated cases reported with 25 repeats, one case with isolated interrupted aortic arch and one case with scoliosis, facial asymmetry, upslanting
palpebral fissures, absent PV, isolated left pulmonary artery (expected de novo - excluded in mother and father not available for testing). Other variant types cause disease in this gene.
Sources: LiteratureCreated: 6 Sep 2021, 11:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tetralogy of Fallot MIM#187500
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- TOF
- Chromosome
- 22
- GRCh37 Coordinates
- 19754285-19754330
- GRCh38 Coordinates
- 19766762-19766807
- Repeated Sequence
- GCN
- Normal Number of Repeats: <
- 15
- Pathogenic Number of Repeats: = or >
- 25
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Tetralogy of Fallot MIM#187500
- Tags
- OMIM
- 602054
- Clinvar variants
- Variants in TBX1
- Penetrance
- None
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag paediatric-onset tag was added to STR: TOF.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: tof has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: tof has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: TOF was added STR: TOF was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: TOF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: TOF were set to 19948535; 11748311 Phenotypes for STR: TOF were set to Tetralogy of Fallot MIM#187500 Review for STR: TOF was set to GREEN STR: TOF was marked as clinically relevant