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| Genomic newborn screening: BabyScreen+ v0.973 | EXT2 | Zornitza Stark Marked gene: EXT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.973 | EXT2 | Zornitza Stark Gene: ext2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.973 | EXT2 | Zornitza Stark Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.972 | EXT2 | Zornitza Stark Mode of inheritance for gene: EXT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.971 | EXT2 | Zornitza Stark Classified gene: EXT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.971 | EXT2 | Zornitza Stark Gene: ext2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.970 | EXT2 | Zornitza Stark reviewed gene: EXT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | EXT2 |
Zornitza Stark gene: EXT2 was added gene: EXT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2 |
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