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| Additional findings_Paediatric v0.2 | BRCA2 |
Zornitza Stark Source BabySeq Category C gene was added to BRCA2. Source Expert Review Red was added to BRCA2. Mode of inheritance for gene BRCA2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Breast-ovarian cancer, familial, 2 for gene: BRCA2 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | OCA2 |
Zornitza Stark gene: OCA2 was added gene: OCA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OCA2 were set to Albinism, oculocutaneous |
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| Additional findings_Paediatric v0.2 | CA2 | Zornitza Stark Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis for gene: CA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | BRCA2 | Zornitza Stark Added phenotypes Fanconi anemia, complementation group D1 for gene: BRCA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | CA2 |
Zornitza Stark gene: CA2 was added gene: CA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis |
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| Additional findings_Paediatric v0.0 | BRCA2 |
Zornitza Stark gene: BRCA2 was added gene: BRCA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1 |
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