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| Common deletion and duplication syndromes v0.35 | ISCA-37405-Loss | Zornitza Stark Marked Region: ISCA-37405-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.35 | ISCA-37405-Loss | Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.35 | ISCA-37405-Loss | Zornitza Stark Classified Region: ISCA-37405-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.35 | ISCA-37405-Loss | Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.34 | ISCA-37405-Loss |
Zornitza Stark Region: ISCA-37405-Loss was added Region: ISCA-37405-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37405-Loss. Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal Publications for Region: ISCA-37405-Loss were set to 29146700 Phenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900 Review for Region: ISCA-37405-Loss was set to GREEN Added comment: NPHP1 deletions are frequent, and can either be homozygous or compound heterozygous with SNVs, and result in a range of ciliopathies. Sources: Expert list |
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