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| Congenital Disorders of Glycosylation v0.284 | PIGT | Zornitza Stark Marked gene: PIGT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.284 | PIGT | Zornitza Stark Gene: pigt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.284 | PIGT | Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.169 | PIGT | Zornitza Stark Publications for gene: PIGT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.168 | PIGT | Zornitza Stark Phenotypes for gene: PIGT were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.167 | PIGT | Zornitza Stark Mode of inheritance for gene: PIGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.164 | PIGT | Sarah Donoghue reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25943031, PMID: 24906948, PMID: 23636107, PMID: 30813157 PMID: 28728837, PMID: 27916860, PMID: 29868109, PMID: 30976099; Phenotypes: Intellectual disability, Hypotonia, Leukodystrophy, Cortical visual impairment, Strabismus, Hearing Loss, Patent Ductus Arteriosus, Cardiomyopathy, Gastroesophageal Reflux, Nephrocalcinosis, Ureteric dilatation, Slender long bones, Scoliosis, Brachycephaly, Short arms, Pectus excavated, joint hyper mobility, High forehead, bitemporal narrowing, broad nasal root, antevered nose, depressed nasal bridge, long philtrum with a deep groove, cupid bow lips; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.0 | PIGT |
Zornitza Stark gene: PIGT was added gene: PIGT was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIGT was set to Unknown |
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