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Limb disorders

Gene: TBX4

Green List (high evidence)
TBX4 (T-box 4)
EnsemblGeneIds (GRCh38): ENSG00000121075
EnsemblGeneIds (GRCh37): ENSG00000121075
OMIM: 601719, Gene2Phenotype
TBX4 is in 6 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: Changing to imprinted status unknown as per the reviewer selection.
Created: 4 Dec 2018, 11:35 a.m.
Created: 4 Dec 2018, 11:35 a.m.

Panel version: 0.340

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported
Created: 1 Aug 2016, 8:08 a.m.
Created: 1 Aug 2016, 8:08 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.1189

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Ischiocoxopodopatellar syndrome 147891

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:08 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
OMIM
601719
Clinvar variants
Variants in TBX4
Penetrance
None
Panels with this gene

History Filter Activity

2 Aug 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TBX4 were changed from Ischiocoxopodopatellar syndrome 147891 to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

9 Dec 2018, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TBX4 were changed from Ischiocoxopodopatellar syndrome to Ischiocoxopodopatellar syndrome 147891

4 Dec 2018, Gel status: 4

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: TBX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to TBX4. Panel: Limb disorders UKGTN was added to TBX4. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to TBX4. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to TBX4. Panel: Limb disorders Expert list was added to TBX4. Panel: Limb disorders Model of inheritance for gene TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to TBX4. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TBX4 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TBX4 was created by Ellen McDonagh