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| Renal ciliopathies v1.60 | ISCA-37432-Loss | Arina Puzriakova commented on Region: ISCA-37432-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.60 | 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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| Renal ciliopathies v0.1 | ISCA-37432-Loss |
Eleanor Williams Region: ISCA-37432-Loss was added Region: ISCA-37432-Loss was added to Renal ciliopathies. Sources: ClinGen,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; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; delayed development, intellectual disability; 614527; RCAD syndrome; utero-vaginal atresia; Chromosome 17q12 deletion syndrome; Autism Spectrum Disorder; global developmental delay; Renal cysts and diabetes syndrome |
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