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  2. Clefting disorders
  3. TBX1
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Clefting disorders

Gene: TBX1

Green List (high evidence)
TBX1 (T-box 1)
EnsemblGeneIds (GRCh38): ENSG00000184058
EnsemblGeneIds (GRCh37): ENSG00000184058
OMIM: 602054, Gene2Phenotype
TBX1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cleft palate is a key feature, though note deletions are the commonest mechanism.
Created: 29 Jan 2021, 3:25 a.m. | Last Modified: 29 Jan 2021, 3:25 a.m.
Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Velocardiofacial syndrome, MIM# 192430

Publications

Created: 29 Jan 2021, 3:25 a.m.
Last Modified: 29 Jan 2021, 3:25 a.m.
Panel version: 0.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Velocardiofacial syndrome, MIM# 192430
  • Cleft palate
Tags
SV/CNV
OMIM
602054
Clinvar variants
Variants in TBX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx1 has been classified as Green List (High Evidence).

29 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBX1 were changed from CTHM; CONOTRUNCAL HEART MALFORMATIONS; Cleft palate to Velocardiofacial syndrome, MIM# 192430; Cleft palate

29 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBX1 were set to

29 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx1 has been classified as Green List (High Evidence).

29 Jan 2021, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: TBX1.

16 Sep 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBX1 was added gene: TBX1 was added to Clefting_GEL. Sources: Expert Review Amber,Victorian Clinical Genetics Services Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX1 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS; Cleft palate