Pneumothorax - familial
Gene: MTHFR
MTHFR (methylenetetrahydrofolate reductase)
EnsemblGeneIds (GRCh38): ENSG00000177000
EnsemblGeneIds (GRCh37): ENSG00000177000
OMIM: 607093, Gene2Phenotype
MTHFR is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000177000
EnsemblGeneIds (GRCh37): ENSG00000177000
OMIM: 607093, Gene2Phenotype
MTHFR is in 13 panels
1 review
Stefan Marciniak (University of Cambridge)
Mutated in HomocytinuriaCreated: 8 Sep 2016, 3:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocytinuria
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Homocytinuria
- OMIM
- 607093
- Clinvar variants
- Variants in MTHFR
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset leukodystrophy
- Fetal anomalies
- Pneumothorax - familial
- Familial Meniere Disease
- Familial Neural Tube Defects
- Undiagnosed metabolic disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Cerebral folate deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Inherited bleeding disorders
- DDG2P
- Likely inborn error of metabolism
History Filter Activity
9 Feb 2017, Gel status: 1
panel promoted to version 1
Olivia Niblock (Genomics England Curator)09/02/17 - Panel revised according to expert review, literature searches and clinical review.
18 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Sep 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
8 Sep 2016, Gel status: 0
Added New Source
Stefan Marciniak (University of Cambridge)MTHFR was added to Familial Pneumothoraxpanel. Sources: Expert list
8 Sep 2016, Gel status: 0
Created
Stefan Marciniak (University of Cambridge)MTHFR was created by [email protected]