Activity
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6 actions
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| Additional findings_Paediatric v0.101 | GGCX |
Lilian Downie gene: GGCX was added gene: GGCX was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450 Review for gene: GGCX was set to GREEN Added comment: Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Can cause fatal haemmorhage in the first few weeks of life. Non reviewed by Babyseq, included in NC NEXUS list. Sources: Expert list |
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| Additional findings_Paediatric v0.2 | RHAG |
Zornitza Stark gene: RHAG was added gene: RHAG was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: RHAG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RHAG were set to Rh-deficiency syndrome |
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| Additional findings_Paediatric v0.2 | ENG | Zornitza Stark Added phenotypes Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ACVRL1 | Zornitza Stark Added phenotypes Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | ENG |
Zornitza Stark gene: ENG was added gene: ENG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 |
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| Additional findings_Paediatric v0.0 | ACVRL1 |
Zornitza Stark gene: ACVRL1 was added gene: ACVRL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 |
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