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| Unexplained young onset end-stage renal disease v1.33 | ISCA-37432-Loss | Arina Puzriakova commented on Region: ISCA-37432-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v1.33 | ISCA-37432-Loss |
Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616. Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60. |
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| Unexplained young onset end-stage renal disease v0.2 | ISCA-37432-Loss | Eleanor Williams commented on Region: ISCA-37432-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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