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Genetic epilepsy syndromes

Gene: MTR

Amber List (moderate evidence)

MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000116984
EnsemblGeneIds (GRCh37): ENSG00000116984
OMIM: 156570, Gene2Phenotype
MTR is in 16 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Metabolic phenotype with failure to thrive, with seizures presenting later. Better tested through the metabolic panel. Demoted from Green to Amber.
Created: 25 Nov 2019, 8:55 p.m. | Last Modified: 25 Nov 2019, 8:55 p.m.
Panel Version: 1.447
PMID:28666289 (Komulainen-Ebrahim et al., 2017) describe a homozygous MTR p.P1173L variant in a patient with drug-resistant seizures associated with hyperhomocysteinemia and hypomethioninemia.
Created: 21 Nov 2019, 3:02 p.m. | Last Modified: 21 Nov 2019, 3:02 p.m.
Panel Version: 1.417
PMID:9683607 (Wilson et al., 1998) report 3 cblG patients, including 2 siblings who presented with neonatal seizures.
Created: 21 Nov 2019, 3 p.m. | Last Modified: 21 Nov 2019, 3 p.m.
Panel Version: 1.417
PMID:25526710 (Huemer et al., 2015) summarise clinical features of 13 patients with the cblG defect (caused by defects in MTR): 5/13 had seizures.
Created: 21 Nov 2019, 2:53 p.m. | Last Modified: 21 Nov 2019, 2:53 p.m.
Panel Version: 1.417
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria-megaloblastic anemia, cblG complementation type, 250940

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Created: 4 Dec 2018, 11:24 a.m.
Comment on publications: added publication to support gene-disease association
Created: 4 Dec 2018, 11:19 a.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Created: 3 Dec 2018, 5:08 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype.
Created: 16 Aug 2018, 12:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940

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

Details

History Filter Activity

25 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: mtr has been classified as Amber List (Moderate Evidence).

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MTR.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MTR.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mtr has been classified as Green List (High Evidence).

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mtr has been classified as Green List (High Evidence).

4 Dec 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MTR were set to 9453374; 12068375; 9683607; 28666289

4 Dec 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MTR were set to 12068375; 9683607; 28666289

4 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mtr has been classified as Amber List (Moderate Evidence).

4 Dec 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MTR were set to

3 Dec 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; seizures to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; methionine synthase deficiency type cblG; seizures

3 Dec 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MTR were changed from to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; seizures

3 Dec 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: MTR was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to MTR. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MTR was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

MTR was created by Sarah Leigh