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| BabyScreen+ newborn screening v0.723 | SCN2A | Zornitza Stark Classified gene: SCN2A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.723 | SCN2A | Zornitza Stark Gene: scn2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.722 | SCN2A |
Zornitza Stark Tag for review was removed from gene: SCN2A. Tag treatable was removed from gene: SCN2A. |
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| BabyScreen+ newborn screening v0.722 | SCN2A | Zornitza Stark reviewed gene: SCN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.523 | SCN2A |
Zornitza Stark Tag for review tag was added to gene: SCN2A. Tag treatable tag was added to gene: SCN2A. |
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| BabyScreen+ newborn screening v0.505 | SCN2A | Seb Lunke Marked gene: SCN2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.505 | SCN2A | Seb Lunke Gene: scn2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.505 | SCN2A |
Seb Lunke changed review comment from: Established gene-disease association. Childhood onset, severe neurological disorder. Treatment: Phenytoin; high dose carbamazepine Non-genetic confirmatory test: not available; to: Established gene-disease association. Childhood onset, severe neurological disorder. Treatment: Phenytoin; high dose carbamazepine Non-genetic confirmatory test: not available |
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| BabyScreen+ newborn screening v0.505 | SCN2A | Seb Lunke reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | SCN2A |
Zornitza Stark gene: SCN2A was added gene: SCN2A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11, MIM# 613721 |
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