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Renal ciliopathies v1.60 | ISCA-37405-Loss | Arina Puzriakova commented on Region: ISCA-37405-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.60 | ISCA-37405-Loss |
Arina Puzriakova GRCh38 position for ISCA-37405-Loss was changed from 110122329-110205017 to 110104531-110228181. Haploinsufficiency Score for ISCA-37405-Loss was changed from 3 to 30. Required Overlap Percentage for ISCA-37405-Loss was changed from 80 to 60. |
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Renal ciliopathies v0.1 | ISCA-37405-Loss |
Eleanor Williams Region: ISCA-37405-Loss was added Region: ISCA-37405-Loss was added to Renal ciliopathies. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal Publications for Region: ISCA-37405-Loss were set to 8852662; 9856524; 15138899 Phenotypes for Region: ISCA-37405-Loss were set to 609583; juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities; 266900 |