| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal Dysplasia_Fetal v0.134 | NPR2 | Zornitza Stark Marked gene: NPR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.134 | NPR2 | Zornitza Stark Gene: npr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.134 | NPR2 | Zornitza Stark Classified gene: NPR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.134 | NPR2 | Zornitza Stark Gene: npr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.133 | NPR2 | Zornitza Stark reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Acromesomelic dysplasia 1, Maroteaux type - MIM#602875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.133 | NPR2 | Zornitza Stark Classified gene: NPR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.133 | NPR2 | Zornitza Stark Gene: npr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.121 | NPR2 |
Krithika Murali gene: NPR2 was added gene: NPR2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPR2 were set to 31555216; 16384845; 15146390; 22870295; 24057292; 24259409; 16384845; 24471569 Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia 1, Maroteaux type - MIM#602875 Review for gene: NPR2 was set to GREEN Added comment: Biallelic LoF variants associated with AMDM, a disorder characterised by severe dwarfism with disproportionate shortening of the middle and distal segments of the limbs. Shortening of the limbs may be detected antenatally. Sources: Expert list, Literature |
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