Cerebellar hypoplasiaGene: PHGDH
Unclear how many individuals with mutations in this gene will have cerebellar hypoplasia
Created: 14 Nov 2016, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neu-Laxova syndrome 1, 256520
22/02/2017: Panel revised after internal clinical review and further curation.
PHGDH was created by agardham
PHGDH was added to Cerebellar hypoplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Literature