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

Gene: FREM1

Green List (high evidence)

Bi-allelic variants are associated with multiple congenital anomaly syndromes (MOTA and BNAR), which likely represent a spectrum. Multiple families reported.

Three families reported with trigonocephaly and single missense variants.

Created: 5 Jan 2022, 12:47 a.m. | Last Modified: 5 Jan 2022, 12:47 a.m.

Panel Version: 0.10480

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

Phenotypes
Manitoba oculotrichoanal syndrome 248450; Bifid nose with or without anorectal and renal anomalies, MIM# 608980; Trigonocephaly 2, MIM# 614485

Publications

• 32016392
• 21931569
• 21507892
• 19732862
• 20301721
• 28111185