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| Unexplained young onset end-stage renal disease v0.2 | KIT | Eleanor Williams reviewed gene: KIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.1 | ISCA-37432-Loss |
Eleanor Williams Region: ISCA-37432-Loss was added Region: ISCA-37432-Loss was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37432-Loss were set to Schizophrenia; Renal cysts and diabetes syndrome; delayed development, intellectual disability; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; global developmental delay; 614527; RCAD syndrome; Chromosome 17q12 deletion syndrome; utero-vaginal atresia |
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| Unexplained young onset end-stage renal disease v0.1 | KIT |
Eleanor Williams gene: KIT was added gene: KIT was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: KIT was set to Unknown |
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