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Fetal anomalies

Gene: MTFMT

Green List (high evidence)
MTFMT (mitochondrial methionyl-tRNA formyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000103707
EnsemblGeneIds (GRCh37): ENSG00000103707
OMIM: 611766, Gene2Phenotype
MTFMT is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 10 panels, inc. severe paediatric disorders, IEM. Associated with Combined oxidative phosphorylation deficiency 15 (AR) and Mitochondrial complex I deficiency, nuclear type 27 (AR). Hayhurst et al., 2019 PMID 30911575: Px 1: born 32+3 weeks. Prenatal: IUGR. Ventilation for 3wks. Hypospadias and failed newborn hearing assessment. Deteriorated. Died 3.5yo. c.626C>T hom. Px 6: emergency C section due to mat. HELLP syndrome. At birth: dysmorphic features (low-set ears, narrow lips, nail atrophy, foot syndactyly, hypospadias and cryptorchidism. Died 22mo. Px 10: C section due to concerns about IUGR. Mother had previous 6 1st trimester miscarriages due to pro-thrombotic state. At birth: dysmorphic facial features and hypospadias. Px 11: CSD and diaphramatic hernia at birth. Oates et al., 2016 PMID 27393152: Px: referred at 4yo with end stage renal disease secondary to renal dysplasia of ectopic kidneys and cerebral vascular anomalies, for MDT kidney transplant evaluation. Born at 36wk gestation. Pregnancy: oligohydramnios and low birth weight. Kidneys = low lying in superior aspect of pelvis with renal arteries inferiorly located. Kidneys abnormally small. Also had pulmonic stenosis, repaired at 10mo, skeletal anomalies (bilateral fusion of distal radius/ulna) and dysmorphic facial features. c.1116delT p.(Pro373Glnfs*19) hom. But majority of patients onset during neonatal/childhood period. Conclusion: link to prenatal phenotype (IUGR, oligohydramnios, kidney abnormalities). Relevant.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 15, OMIM:614947; Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 15, OMIM:614947
  • Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248
OMIM
611766
Clinvar variants
Variants in MTFMT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: MTFMT. Tag Q2_23_NHS_review was removed from gene: MTFMT.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to MTFMT. Source NHS GMS was added to MTFMT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MTFMT were set to

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: MTFMT. Tag Q2_23_NHS_review tag was added to gene: MTFMT.

5 May 2023, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: MTFMT was added gene: MTFMT was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, OMIM:614947; Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248