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Intellectual disability

Gene: MTFMT

Green List (high evidence)

MTFMT (mitochondrial methionyl-tRNA formyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000103707
EnsemblGeneIds (GRCh37): ENSG00000103707
OMIM: 611766, Gene2Phenotype
MTFMT is in 9 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green. MTFMT is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients who have different variants in this gene who have ID or developmental delay. Therefore, there is enough evidence to promote this gene to green status.
Created: 28 Jun 2019, 9:41 a.m. | Last Modified: 28 Jun 2019, 9:41 a.m.
Panel Version: 2.909

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple affected individuals with bi-allelic variants in this gene reported in the literature, ID is part of the phenotype.
Created: 22 Jun 2018, 11:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 15

Publications

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

History Filter Activity

28 Jun 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15 to Combined oxidative phosphorylation deficiency 15, 614947

28 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

28 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MTFMT were set to 24461907; 23499752

28 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MTFMT were set to 24461907; 23499752; 24461907

28 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MTFMT were set to 24461907, 23499752, 24461907

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to MTFMT.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

MTFMT was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

MTFMT was created by Zornitza Stark