Unexplained young onset end-stage renal disease
Gene: GLI3
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pallister-Hall syndrome
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reportedCreated: 4 Aug 2016, 1:05 p.m.
Comment on phenotypes: Also associated with Greig cephalopolysyndactyly syndrome 175700, Polydactyly, postaxial, types A1 and B 174200, Polydactyly, preaxial, type IV 174700 and {Hypothalamic hamartomas, somatic} 241800Created: 4 Aug 2016, 1:04 p.m.
Comment on list classification: Promoted from red to amber due to review. Confirmed DD gene for Pallister-hall syndrome, preaxial polydactyly type IV and Type A, Greig cephalopolysyndactyly sydrome.Created: 29 Mar 2016, 10:58 a.m.
gene: GLI3 was added gene: GLI3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome; Pallister-Hall syndrome 146510