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| Fetal anomalies v0.3083 | NPM1 | Zornitza Stark Marked gene: NPM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3083 | NPM1 | Zornitza Stark Gene: npm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3083 | NPM1 | Zornitza Stark Phenotypes for gene: NPM1 were changed from Dyskeratosis congenita to Dyskeratosis congenita, MONDO:0015780, NPM1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3082 | NPM1 | Zornitza Stark Classified gene: NPM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3082 | NPM1 | Zornitza Stark Gene: npm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2993 | NPM1 |
Krithika Murali gene: NPM1 was added gene: NPM1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPM1 were set to 31570891 Phenotypes for gene: NPM1 were set to Dyskeratosis congenita Review for gene: NPM1 was set to AMBER Added comment: Heterozygous variants identified in 2 patients with dyskeratosis congenita (DKC). x1 patient with NPM1 missense mutation presented with severe growth defects at birth, thumb abnormalities and thrombocytopenia. x1 patient with in-frame NPM1 deletion presented with skin pigmentation abnormalities, nail dystrophy, microcephaly, developmental delay, short stature, skeletal abnormalities in the radius and bone marrow failure by age 6. Some of these features may be amenable to antenatal detection. Sources: Literature |
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