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Prepair 1000+ v1.480 | KPTN | Zornitza Stark Marked gene: KPTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.480 | KPTN | Zornitza Stark Gene: kptn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.480 | KPTN | Zornitza Stark Phenotypes for gene: KPTN were changed from Mental retardation, autosomal recessive 41, 615637 (3) to Intellectual developmental disorder, autosomal recessive 41 (MIM#615637) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.479 | KPTN | Zornitza Stark Publications for gene: KPTN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.470 | KPTN | Marta Cifuentes Ochoa reviewed gene: KPTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239382, 32358097, 32808430; Phenotypes: Intellectual developmental disorder, autosomal recessive 41 (MIM#615637); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v0.0 | KPTN |
Zornitza Stark gene: KPTN was added gene: KPTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KPTN were set to Mental retardation, autosomal recessive 41, 615637 (3) |