Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
White matter disorders and cerebral calcification - narrow panel v0.11 | EIF2B1 |
Ellen McDonagh gene: EIF2B1 was added gene: EIF2B1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B1 were set to 16807905; 25655951; 15776425 Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood Ataxia with Central Nervous System Hypomyelination; General Leukodystrophy & Mitochondrial Leukoencephalopathy; eIF2B related disorder (Vanishing WM Disease or CACH) |