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| Prepair 1000+ v1.1118 | PCDH12 | Zornitza Stark Marked gene: PCDH12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1118 | PCDH12 | Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1118 | PCDH12 | Zornitza Stark Phenotypes for gene: PCDH12 were changed from Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive to Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1117 | PCDH12 | Zornitza Stark Publications for gene: PCDH12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.992 | PCDH12 | Ee Ming Wong reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | PCDH12 |
Zornitza Stark gene: PCDH12 was added gene: PCDH12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCDH12 were set to Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive |
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