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Inborn errors of metabolism

Gene: MTHFD1

Red List (low evidence)

MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000100714
EnsemblGeneIds (GRCh37): ENSG00000100714
OMIM: 172460, Gene2Phenotype
MTHFD1 is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: associated with susceptibility to the mentioned phenotypes
Created: 6 Feb 2017, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
{Spina bifida, folate-sensitive, susceptibility to} 601634 AR; {Abruptio placentae, susceptibility to}

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • {Abruptio placentae, susceptibility to}
  • {Spina bifida, folate-sensitive, susceptibility to} 601634 AR
OMIM
172460
Clinvar variants
Variants in MTHFD1
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MTHFD1 was added gene: MTHFD1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTHFD1 were set to {Abruptio placentae, susceptibility to}; {Spina bifida, folate-sensitive, susceptibility to} 601634 AR