Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: CTU2
More than 6 families reported, four had the same founder variant.Created: 19 Dec 2021, 7:34 a.m. | Last Modified: 19 Dec 2021, 7:34 a.m.
Panel Version: 0.10295
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
Publications
Multiple Saudi families with the same homozygous mutation.
Sources: Expert listCreated: 27 Nov 2019, 11:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Publications
Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Gene: ctu2 has been classified as Green List (High Evidence).
Phenotypes for gene: CTU2 were changed from to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Publications for gene: CTU2 were set to
Mode of inheritance for gene: CTU2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: CTU2 was added gene: CTU2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTU2 was set to Unknown