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  3. TBX4
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Interstitial Lung Disease

Gene: TBX4

Green List (high evidence)
TBX4 (T-box 4)
EnsemblGeneIds (GRCh38): ENSG00000121075
EnsemblGeneIds (GRCh37): ENSG00000121075
OMIM: 601719, Gene2Phenotype
TBX4 is in 5 panels

3 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Childhood-onset PAH; pulmonary hypoplasia

Publications

Created: 5 Nov 2021, 2 a.m.
Last Modified: 5 Nov 2021, 2 a.m.
Panel version: 0.154

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants cause more severe disease, including pulmonary hypoplasia. At least 3 families reported.
Created: 19 Oct 2021, 9:15 a.m. | Last Modified: 19 Oct 2021, 9:15 a.m.
Panel Version: 0.35

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360

Publications

Created: 19 Oct 2021, 9:15 a.m.
Last Modified: 19 Oct 2021, 9:15 a.m.
Panel version: 0.35

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Pulmonary arterial hypertension can be a feature of the condition caused by this gene.
Sources: Expert list
Created: 23 Jan 2020, 12:34 a.m.

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

Phenotypes
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891

Created: 23 Jan 2020, 12:34 a.m.

Panel version: Imported from Pulmonary Arterial Hypertension panel version 0.19

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891
  • Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360
OMIM
601719
Clinvar variants
Variants in TBX4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBX4 were set to 31761294; 31965066; 29631995; 23592887; 30578383

5 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBX4 were set to 31761294; 31965066

19 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx4 has been classified as Green List (High Evidence).

19 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBX4 were changed from to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891; Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360

19 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBX4 were set to

19 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBX4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBX4 was added gene: TBX4 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBX4 was set to Unknown