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| Prepair 1000+ v1.9 | AGL | Marta Cifuentes Ochoa commented on gene: AGL: Current Treatment high-fat, high-protein and low-carbohydrate diet with cornstarch supplementation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | GATM | Seb Lunke Added phenotypes Cerebral creatine deficiency syndrome 3, 612718 (3) for gene: GATM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | ATM | Seb Lunke Added phenotypes Ataxia-telangiectasia, 208900 (3) for gene: ATM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.61 | BTD |
Crystle Lee gene: BTD was added gene: BTD was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 16435182; 20301497; 32440248 Phenotypes for gene: BTD were set to Biotinidase deficiency (MIM#253260) Review for gene: BTD was set to RED Added comment: Well-established gene disease association. Genotype/phenotype correlations in biotinidase deficiency are not well established, decisions regarding treatment should be based on the results of enzyme activity rather than molecular genetic testing. May be challenging to predict phenotypic outcome in a carrier screening context. Sources: Literature |
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| Prepair 1000+ v0.0 | GATM |
Zornitza Stark gene: GATM was added gene: GATM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3, 612718 (3) |
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| Prepair 1000+ v0.0 | ATM |
Zornitza Stark gene: ATM was added gene: ATM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia-telangiectasia, 208900 (3) |
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