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  3. TBX4
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Childhood 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 7 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

TBX4 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #147891 & #601360) and the OMIM records were last accessed on 30 December 2025.
Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2

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

Phenotypes
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891; Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, OMIM:601360; congenital alveolar dysplasia due to TBX4, MONDO:0100097; autosomal recessive amelia, MONDO:0011054

Created: 30 Dec 2025, 7:22 p.m.
Last Modified: 30 Dec 2025, 7:22 p.m.
Panel version: 0.5

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • autosomal recessive amelia, MONDO:0011054
  • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
  • Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, OMIM:601360
  • congenital alveolar dysplasia due to TBX4, MONDO:0100097
OMIM
601719
Clinvar variants
Variants in TBX4
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TBX4 was added gene: TBX4 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TBX4 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: TBX4 were set to autosomal recessive amelia, MONDO:0011054; Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891; Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, OMIM:601360; congenital alveolar dysplasia due to TBX4, MONDO:0100097