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Unexplained young onset end-stage renal disease v3.39 SMARCAL1 Arina Puzriakova Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia 242900 to Schimke immunoosseous dysplasia, OMIM:242900
Unexplained young onset end-stage renal disease v0.2 SMARCAL1 Eleanor Williams reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 SMARCAL1 Eleanor Williams gene: SMARCAL1 was added
gene: SMARCAL1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia 242900