| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.2247 | HIVEP2 | Zornitza Stark Marked gene: HIVEP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2247 | HIVEP2 | Zornitza Stark Gene: hivep2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2247 | HIVEP2 | Zornitza Stark Phenotypes for gene: HIVEP2 were changed from HIVEP2 associated syndromic developmental delay with intellectual disability to Mental retardation, autosomal dominant 43, MIM# 616977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2246 | HIVEP2 | Zornitza Stark Publications for gene: HIVEP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2245 | HIVEP2 | Zornitza Stark Mode of inheritance for gene: HIVEP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2244 | HIVEP2 |
Zornitza Stark changed review comment from: More than 10 unrelated individuals reported, most variants are LOF, supportive mouse model.; to: More than 10 unrelated individuals reported, most variants are LOF, supportive mouse model. Microcephaly and CC abnormalities reported in some. |
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| Fetal anomalies v0.0 | HIVEP2 |
Zornitza Stark gene: HIVEP2 was added gene: HIVEP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIVEP2 were set to HIVEP2 associated syndromic developmental delay with intellectual disability |
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