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Limb disorders

Gene: TBX22

Red List (low evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: there is some evidence linking limb anomalies to TBX22 variants (PMID:21375406) but currently insufficient cases for inclusion on a diagnostic panel.
Created: 11 Oct 2018, 10:41 a.m.
Abruzzo-Erickson syndrome (MIM:302905, reported by Abruzzo and Erickson in 1977, PMID:839509) includes radial synostosis (an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth). In affected family members (2 brothers and an uncle) with Abruzzo-Erickson syndrome, Pauws et al. 2013 (PMID:22784330) identified a -5T-A transversion in intron 3 (c.593-5T-A) of the TBX22 gene- a dactyly phenotype isn't mentioned by Pauws et al.
Created: 11 Oct 2018, 9:45 a.m.
PMID:21375406 (Kaewkhampa, 2012) identified a hemizygous missense c.452G>T (p.Arg151Leu) variant in a 9 year old Thai boy who had unilateral complete cleft lip and palate and additional features including hypoplastic right thumb and clinodactyly of the fifth digits and the right index finger. In addition, he displayed carpal bone anomalies consisting of hypoplastic trapezoid, trapezium of the left hand, and shortness of the first proximal phalange and the first metacarpal. The trapezium and scaphoid of the right hand were absent. The authors say this is the first case of limb anomalies reported with TBX22 variant, and therefore the upper limb anomalies in the patient could be unrelated or limb anomalies may have been unascertained in previous patients.
Created: 11 Oct 2018, 9:40 a.m.

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
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • ?Abruzzo-Erickson syndrome, 302905
  • Cleft palate with ankyloglossia, 303400
  • Radioulnar synostosis
  • upper limb anomalies
  • clinodactyly
OMIM
300307
Clinvar variants
Variants in TBX22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: PMID:21375406 (Kaewkhampa, 201

11 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tbx22 has been classified as Red List (Low Evidence).

11 Oct 2018, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TBX22 were set to 21375406; 839509

11 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tbx22 has been classified as Red List (Low Evidence).

11 Oct 2018, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TBX22 were set to

11 Oct 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TBX22 were changed from Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis to Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis; upper limb anomalies; clinodactyly

11 Oct 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TBX22 were changed from Polydactyly to Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis

11 Oct 2018, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TBX22 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TBX22 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TBX22 was created by Ellen McDonagh