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| Additional findings_Paediatric v0.2 | ABCD4 |
Zornitza Stark gene: ABCD4 was added gene: ABCD4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type |
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| Additional findings_Paediatric v0.2 | MMADHC |
Zornitza Stark gene: MMADHC was added gene: MMADHC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type |
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| Additional findings_Paediatric v0.2 | MMACHC |
Zornitza Stark gene: MMACHC was added gene: MMACHC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type |
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| Additional findings_Paediatric v0.2 | MMAB |
Zornitza Stark gene: MMAB was added gene: MMAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type |
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| Additional findings_Paediatric v0.2 | CBL | Zornitza Stark Added phenotypes Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia for gene: CBL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | CBL |
Zornitza Stark gene: CBL was added gene: CBL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia |
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