Unexplained young onset end-stage renal disease
Gene: FRAS1
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fraser syndrome
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 4 Aug 2016, 12:35 p.m.
Several publications show billalelic mutations in renal agenesis/Fraser syndrome. Also convincing mouse models available with renal agenesis and biallelic Fras1 mutations.Created: 22 Apr 2016, 11:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Promoted from red to green as two reviewers in agreement. Confirmed DD gene for Fraser syndrome.Created: 29 Mar 2016, 10:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
gene: FRAS1 was added gene: FRAS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FRAS1 were set to Fraser syndrome 219000; Fraser syndrome