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  3. TBX22
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Clefting

Gene: TBX22

Green List (high evidence)
TBX22 (T-box 22)
EnsemblGeneIds (GRCh38): ENSG00000122145
EnsemblGeneIds (GRCh37): ENSG00000122145
OMIM: 300307, Gene2Phenotype
TBX22 is in 6 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added more phenotypes due to expert review comment and OMIM
Created: 19 Dec 2016, 4:44 p.m.
Comment on publications: PMID via expert reviewer
Created: 19 Dec 2016, 4:44 p.m.
Comment on list classification: Promoted gene from Amber to Green status due to expert reviews and evidences
Created: 19 Dec 2016, 4:43 p.m.
Created: 19 Dec 2016, 4:43 p.m.

Panel version: 0.54

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Cleft palate; ankyloglossia

Created: 8 Dec 2016, 9:42 a.m.

Panel version: 0.31

Philip Stanier (UCL-ICH)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Cleft palate; submucous cleft; ankyloglossia; palate; cleft lip

Publications

Created: 5 Sep 2016, 1:29 p.m.

Panel version: 0.28

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cleft palate with ankyloglossia, 303400
  • sub mucous cleft
  • palate
  • cleft lip
  • CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED
  • CPX
  • Cleft palate
OMIM
300307
Clinvar variants
Variants in TBX22
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TBX22. Panel: Clefting Phenotypes for gene TBX22 were set to Cleft palate with ankyloglossia, 303400, sub mucous cleft, palate, cleft lip, CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED, CPX, Cleft palate

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

19 Dec 2016, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TBX22 were set to Cleft palate with ankyloglossia, 303400; sub mucous cleft; palate; cleft lip; CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED; CPX

19 Dec 2016, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TBX22 were set to 11559848; 12374769; 14729838; 17846996; 19648124; 19648291; 21248356; 22784330

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Aug 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

TBX22 was added to Cleftingpanel. Source: Illumina TruGenome Clinical Sequencing Services

18 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

TBX22 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen

18 Aug 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

TBX22 was created by oniblock