| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Brain Calcification v1.114 | KARS | Zornitza Stark Marked gene: KARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.114 | KARS | Zornitza Stark Gene: kars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.114 | KARS | Zornitza Stark Phenotypes for gene: KARS were changed from Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly to Leukoencephalopathy with or without deafness (LEPID), MIM#619147 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.113 | Zornitza Stark Copied gene KARS from panel Intellectual disability syndromic and non-syndromic | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.113 | KARS |
Zornitza Stark gene: KARS was added gene: KARS was added to Brain Calcification. Sources: Expert Review Green,Expert list Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 26741492; 31618474; 28887846; 25330800; 29615062; 30252186; 28496994 Phenotypes for gene: KARS were set to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||