| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Macrocephaly_Megalencephaly v0.103 | TET3 | Zornitza Stark Marked gene: TET3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.103 | TET3 | Zornitza Stark Gene: tet3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.103 | TET3 | Zornitza Stark Classified gene: TET3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.103 | TET3 | Zornitza Stark Gene: tet3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.102 | TET3 |
Elena Savva changed review comment from: PMID: 31928709 - 11 cases in 8 families. 3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly. Of the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease However 2/11 patients (siblings) had microcephaly Sources: Literature; to: PMID: 31928709 - 11 cases in 8 families. 3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly. Of the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease However 2/11 patients (siblings) had microcephaly Sources: Literature |
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| Macrocephaly_Megalencephaly v0.102 | TET3 |
Elena Savva gene: TET3 was added gene: TET3 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: TET3 were set to PMID: 31928709 Phenotypes for gene: TET3 were set to Beck-Fahrner syndrome MIM#618798 Review for gene: TET3 was set to AMBER Added comment: PMID: 31928709 - 11 cases in 8 families. 3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly. Of the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease However 2/11 patients (siblings) had microcephaly Sources: Literature |
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