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Fetal anomalies

Gene: TBX22

Green List (high evidence)

TBX22 (T-box 22)
EnsemblGeneIds (GRCh38): ENSG00000122145
EnsemblGeneIds (GRCh37): ENSG00000122145
OMIM: 300307, Gene2Phenotype
TBX22 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported with cleft palate/ankyloglossia and variants in this gene.

Single family reported with Abruzzo-Erickson syndrome, a syndromic form of cleft palate.
Created: 17 Jan 2022, 7:58 a.m. | Last Modified: 17 Jan 2022, 7:58 a.m.
Panel Version: 0.2357

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Cleft palate with ankyloglossia, MIM# 303400; Abruzzo-Erickson syndrome, MIM# 302905

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate with ankyloglossia, MIM# 303400
  • Abruzzo-Erickson syndrome, MIM# 302905
OMIM
300307
Clinvar variants
Variants in TBX22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx22 has been classified as Green List (High Evidence).

17 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBX22 were changed from CLEFT PALATE, X-LINKED; ?Abruzzo-Erickson syndrome, 302905 to Cleft palate with ankyloglossia, MIM# 303400; Abruzzo-Erickson syndrome, MIM# 302905

17 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBX22 were set to 22784330

17 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx22 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBX22 was added gene: TBX22 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TBX22 were set to 22784330 Phenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED; ?Abruzzo-Erickson syndrome, 302905