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| Prepair 1000+ v1.58 | ALG12 | Zornitza Stark Marked gene: ALG12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.58 | ALG12 | Zornitza Stark Gene: alg12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.58 | ALG12 | Zornitza Stark Phenotypes for gene: ALG12 were changed from Congenital disorder of glycosylation, type Ig, 607143 (3) to Congenital disorder of glycosylation, type Ig MIM# 607143 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.57 | ALG12 | Zornitza Stark Publications for gene: ALG12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.9 | ALG12 |
Kate Scarff changed review comment from: HGNC approved symbol/name: ALG12 Is the phenotype(s) severe and onset <18yo ? Yes Features include impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities, and immune deficiency. More variable features include skeletal dysplasia, cardiac anomalies, ocular abnormalities, and sensorineural hearing loss. Some patients die in the early neonatal or infantile period, whereas others are mildly affected and live to adulthood; to: HGNC approved symbol/name: ALG12 Is the phenotype(s) severe and onset <18yo ? Yes Features include impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities, and immune deficiency. More variable features include skeletal dysplasia, cardiac anomalies, ocular abnormalities, and sensorineural hearing loss. Some patients die in the early neonatal or infantile period, whereas others are mildly affected and live to adulthood. No specific treatment at present. |
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| Prepair 1000+ v1.9 | ALG12 | Kate Scarff reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31481313; Phenotypes: Congenital disorder of glycosylation, type Ig MIM# 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | ALG12 |
Zornitza Stark gene: ALG12 was added gene: ALG12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig, 607143 (3) |
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