Cerebral folate deficiency
Gene: MTHFR
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe MTHFR deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 10 variants reported.Created: 8 Dec 2016, 12:07 p.m.
Comment on phenotypes: Also associated with {Neural tube defects, susceptibility to} 601634; {Schizophrenia, susceptibility to} 181500; {Thromboembolism, susceptibility to} 188050; {Vascular disease, susceptibility to}Created: 8 Dec 2016, 11:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Promoted after searching for additional genes, none found (8/12/2016)
MTHFR was added to Cerebral folate deficiencypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for MTHFR were set to 21555636
Phenotypes for MTHFR were set to Homocystinuria due to MTHFR deficiency 236250
MTHFR was added to Cerebral folate deficiencypanel. Sources: Expert Review