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Newborns main panel

Gene: MTHFS

Amber List (moderate evidence)
MTHFS (methenyltetrahydrofolate synthetase)
EnsemblGeneIds (GRCh38): ENSG00000136371
EnsemblGeneIds (GRCh37): ENSG00000136371
OMIM: 604197, Gene2Phenotype
MTHFS is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 30031689 (2 unrelated cases), PMID: 31844630 (1 case)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
OMIM
604197
Clinvar variants
Variants in MTHFS
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MTHFS. Added phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination for gene: MTHFS Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MTHFS. Added phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination for gene: MTHFS Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MTHFS. Added phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination for gene: MTHFS Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to MTHFS. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination for gene: MTHFS

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: MTHFS was added gene: MTHFS was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal