| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Brain Calcification v1.60 | TBC1D20 | Zornitza Stark Marked gene: TBC1D20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.60 | TBC1D20 | Zornitza Stark Gene: tbc1d20 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.60 | TBC1D20 | Zornitza Stark Phenotypes for gene: TBC1D20 were changed from Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341 to Warburg micro syndrome 4, MIM# 615663 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.59 | TBC1D20 | Zornitza Stark Classified gene: TBC1D20 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.59 | TBC1D20 | Zornitza Stark Gene: tbc1d20 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.58 | TBC1D20 | Zornitza Stark reviewed gene: TBC1D20: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Warburg micro syndrome 4, MIM# 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.55 | TBC1D20 |
Yetong Chen gene: TBC1D20 was added gene: TBC1D20 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D20 were set to 32740904 Phenotypes for gene: TBC1D20 were set to Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341 Review for gene: TBC1D20 was set to RED Added comment: Limited evidence supports the causal role of TBC1D20 in brain calcification. PMID 32740904 reports one patient (case 34) with homozygous TBC1D20 variant (c.199C>T (p.Arg67*)) who developed bilateral faint calcification in basal ganglia. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||