| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.1350 | CLPP | Zornitza Stark Marked gene: CLPP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1350 | CLPP | Zornitza Stark Gene: clpp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1350 | CLPP | Zornitza Stark Phenotypes for gene: CLPP were changed from PERRAULT SYNDROME to Perrault syndrome 3, MIM# 614129 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1349 | CLPP | Zornitza Stark Publications for gene: CLPP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1348 | CLPP |
Zornitza Stark changed review comment from: Most affected individuals have the combination of deafness/POF which would not be detectable antenatally.; to: Most affected individuals have the combination of deafness/POF which would not be detectable antenatally. However, microcephaly reported in some. |
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| Fetal anomalies v0.1348 | CLPP | Zornitza Stark edited their review of gene: CLPP: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1348 | CLPP | Zornitza Stark changed review comment from: As far as I can ascertain, ID has only been reported in one consanguineous family and most affected individuals have the combination of deafness/POF.; to: Most affected individuals have the combination of deafness/POF which would not be detectable antenatally. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CLPP |
Zornitza Stark gene: CLPP was added gene: CLPP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLPP were set to PERRAULT SYNDROME |
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