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Cerebral folate deficiency

Gene: MTHFR

Green List (high evidence)

MTHFR (methylenetetrahydrofolate reductase)
EnsemblGeneIds (GRCh38): ENSG00000177000
EnsemblGeneIds (GRCh37): ENSG00000177000
OMIM: 607093, Gene2Phenotype
MTHFR is in 15 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

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

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.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

History Filter Activity

8 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted after searching for additional genes, none found (8/12/2016)

8 Dec 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

MTHFR was added to Cerebral folate deficiencypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

8 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Dec 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MTHFR were set to 21555636

8 Dec 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MTHFR were set to Homocystinuria due to MTHFR deficiency 236250

7 Oct 2015, Gel status: 0

Added New Source

Siddharth Banka banka (Univesrsity of Manchester)

MTHFR was added to Cerebral folate deficiencypanel. Sources: Expert Review