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| Fetal anomalies v0.4285 | C7orf43 | Zornitza Stark Marked gene: C7orf43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4285 | C7orf43 | Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4285 | C7orf43 | Zornitza Stark Tag new gene name tag was added to gene: C7orf43. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4285 | C7orf43 | Zornitza Stark Classified gene: C7orf43 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4285 | C7orf43 | Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4264 | C7orf43 |
Ain Roesley gene: C7orf43 was added gene: C7orf43 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C7orf43 were set to 30715179 Phenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351 Penetrance for gene: C7orf43 were set to Complete Review for gene: C7orf43 was set to AMBER gene: C7orf43 was marked as current diagnostic Added comment: HGNC approved name TRAPPC14 Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model. Occipital-frontal circumferences were below2 SD at birth, with microcephaly progressing later in life Sources: Literature |
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