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Childhood interstitial lung disease v0.5 TBX4 Achchuthan Shanmugasundram commented on gene: TBX4: 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.
Childhood interstitial lung disease v0.2 TBX4 Achchuthan Shanmugasundram reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; 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; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Childhood interstitial lung disease v0.1 TBX4 Achchuthan Shanmugasundram 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