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| Skeletal Dysplasia_Fetal v0.152 | DNMT3A | Zornitza Stark Marked gene: DNMT3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.152 | DNMT3A | Zornitza Stark Gene: dnmt3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.152 | DNMT3A | Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Heyn-Sproul-Jackson syndrome, MIM# 618724 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.151 | DNMT3A | Zornitza Stark Classified gene: DNMT3A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.151 | DNMT3A | Zornitza Stark Gene: dnmt3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.150 | DNMT3A | Zornitza Stark reviewed gene: DNMT3A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Heyn-Sproul-Jackson syndrome, MIM# 618724; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.150 | DNMT3A |
Krithika Murali gene: DNMT3A was added gene: DNMT3A was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNMT3A were set to 30478443 Review for gene: DNMT3A was set to AMBER Added comment: Two allelic syndromes, with LOF variants causing an overgrowth syndrome, and GOF variants causimg a primordial dwarfism syndrome. The primordial dwarfism phenotype is associated with proportionate IUGR antenatally with more evident postnatal growth failure and microcephaly. Sources: Literature |
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