Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
White matter disorders and cerebral calcification - narrow panel v0.11 | MRPS16 |
Ellen McDonagh gene: MRPS16 was added gene: MRPS16 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS16 were set to 18539099; 15505824; 25655951 Phenotypes for gene: MRPS16 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Combined oxidative phosphorylation deficiency 2; Mitochondrial Leukoencephalopathy |