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| Genomic newborn screening: BabyScreen+ v0.1094 | KDM6A | Zornitza Stark Marked gene: KDM6A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1094 | KDM6A | Zornitza Stark Gene: kdm6a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1094 | KDM6A | Zornitza Stark Phenotypes for gene: KDM6A were changed from Kabuki syndrome 2 to Kabuki syndrome 2, MIM#300867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1093 | KDM6A | Zornitza Stark Mode of inheritance for gene: KDM6A was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1092 | KDM6A | Zornitza Stark Classified gene: KDM6A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1092 | KDM6A | Zornitza Stark Gene: kdm6a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1091 | KDM6A | Zornitza Stark reviewed gene: KDM6A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 2, 300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | KDM6A |
Zornitza Stark gene: KDM6A was added gene: KDM6A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: KDM6A were set to Kabuki syndrome 2 |
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