Inherited white matter disordersGene: PHGDH
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:03 p.m.
White matter abnormalities are part of the phenotype.
Created: 24 Jul 2018, 5:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phosphoglycerate dehydrogenase deficiency, MIM#601815
Variants in this GENE are reported as part of current diagnostic practice
Gene: phgdh has been classified as Red List (Low Evidence).
PHGDH was added to Inherited white matter disorders panel. Sources: Expert list
PHGDH was created by Zornitza Stark