Cerebral folate deficiency
Gene: MTHFR

MTHFR (methylenetetrahydrofolate reductase)
EnsemblGeneIds (GRCh38): ENSG00000177000
EnsemblGeneIds (GRCh37): ENSG00000177000
OMIM: 607093, Gene2Phenotype
MTHFR is in 13 panels

3 reviews

Siddharth Banka banka (Univesrsity of Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe MTHFR deficiency

Publications

PMID: 21555636

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

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.

Created: 8 Dec 2016, 11:50 a.m.

Panel version: 0.12

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 9 Feb 2016, 4:34 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
UKGTN
Expert Review Green

Phenotypes

Homocystinuria due to MTHFR deficiency 236250

OMIM

607093

Clinvar variants

Variants in MTHFR

Penetrance

Complete

Publications

Panels with this gene