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Joubert syndrome and other neurological ciliopathies v1.33 ISCA-37405-Loss Zornitza Stark Marked Region: ISCA-37405-Loss as ready
Joubert syndrome and other neurological ciliopathies v1.33 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.33 Sarah Milton Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes
Joubert syndrome and other neurological ciliopathies v1.33 ISCA-37405-Loss Sarah Milton Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Green,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