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| Congenital Disorders of Glycosylation v0.160 | ALG12 | Zornitza Stark Marked gene: ALG12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.160 | ALG12 | Zornitza Stark Gene: alg12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.160 | ALG12 | Zornitza Stark Phenotypes for gene: ALG12 were changed from to Congenital disorder of glycosylation, type Ig 607143 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.159 | ALG12 | Zornitza Stark Publications for gene: ALG12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.158 | ALG12 | Zornitza Stark Mode of inheritance for gene: ALG12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.151 | ALG12 | Sarah Donoghue edited their review of gene: ALG12: Added comment: Usually type I CDG pattern; Changed phenotypes: Dysmorphic features, Psychomotor delay, Seizures, Ocular abnormalities, Sensorineural hearing loss, Hypotonia, Failure to thrive/short stature, Cardiac Abnormalities, Genitourinary abnormalities, Recurrent infections, Hypogammaglobulinaemia, Coagulation abnormalities, Abnormal liver enzymes, Lipid abnormalities, Abnormal transferrin IEF, Abnormal brain imaging, Microcephaly, Skeletal malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.151 | ALG12 | Sarah Donoghue reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31481313; Phenotypes: Dysmorphic features, Psychomotor delay, Seizures, Ocular abnormalities, Sensorineural hearing loss, Hypotonia, Failure to thrive/short stature, Cardiac Abnormalities, Genitourinary abnormalities, Recurrent infections, Hypogammaglobulinaemia, Coagulation abnormalities, Abnormal liver enzymes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.0 | ALG12 |
Zornitza Stark gene: ALG12 was added gene: ALG12 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALG12 was set to Unknown |
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