Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: SIX5

I don't know

Multiple families reported. However, association between SIX5 variants and BOR is DISPUTED by ClinGen: Association has been reported in at least 6 probands in 2 publications (17357085, 24429398), however the reported variants are high in frequency in population databases, have no evidence of pathogenicity, and/or an alternate cause of disease has later been reported (21280147). This gene-disease association is supported by protein interaction and biochemical function studies (14704431, 17357085, 11950062). While EYA1 and SIX1 gene inactivation in mice leads to ear and kidney abnormalities, two independent SIX5 mouse models have cataracts and no ear or kidney abnormalities (10802667, 10802668). In summary, there is convincing evidence disputing the association between SIX5 and autosomal dominant branchio-oto-renal syndrome.

Created: 1 Jan 2022, 10:01 a.m. | Last Modified: 1 Jan 2022, 10:13 a.m.

Panel Version: 0.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchiootorenal syndrome 2, MIM# 610896

Publications

• 17357085
• 33624842
• 20301554
• 24730701
• 22447252
• 21280147
• 14704431
• 11950062
• 10802667
• 10802668