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Intellectual disability syndromic and non-syndromic

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

More than 10 families reported, likely a spectrum of mitochondrial disease rather than distinct disorders. DD/ID can be seen in condition.
Created: 3 Oct 2024, 1:15 a.m. | Last Modified: 3 Oct 2024, 1:15 a.m.
Panel Version: 0.6303

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

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

History Filter Activity

3 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MTFMT were changed from to Combined oxidative phosphorylation deficiency 15, MIM# 614947; Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248

3 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTFMT were set to 21907147; 23499752; 24461907; 22499348

3 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTFMT were set to

3 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTFMT was added gene: MTFMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTFMT was set to Unknown