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Hearing loss

Gene: TGFB2

Red List (low evidence)

TGFB2 (transforming growth factor beta 2)
EnsemblGeneIds (GRCh38): ENSG00000092969
EnsemblGeneIds (GRCh37): ENSG00000092969
OMIM: 190220, Gene2Phenotype
TGFB2 is in 13 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

Phenotypes
#614816:Loeys-Dietz syndrome 4[Retrognathia; Hypertelorism (in some patients)Downslanting palpebral fissures (in some patients); High-arched palateBroad or bifid uvula (in some patients); Mitral valve prolapseBicuspid aortic valve (rare); Aortic root aneurysmAortic dissectionArterial tortuosityCerebrovascular aneurysm (in some patients)Fusiform dilation and tortuosity of cerebrovascular arteries; Emphysema (rare)Pneumothorax (rare); Pectus deformity; Inguinal hernia; Inguinal hernia; Tall statureJoint hyperflexibility; ScoliosisSpondylolisthesis (rare); Protrusio acetabularis; Wrist sign; ArachnodactylySteinberg thumb sign; Flat feetClub feet (in some patients); Skin striaeEasy bruising; Dural ectasia]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TGFB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert