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Intellectual disability syndromic and non-syndromic

Gene: TEFM

Green List (high evidence)

TEFM (transcription elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000172171
EnsemblGeneIds (GRCh37): ENSG00000172171
OMIM: 616422, Gene2Phenotype
TEFM is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seven individuals from 5 families reported. Presentation predominantly with encephalopathy, seizures and ID, in addition to lactic acidosis.
Sources: Literature
Created: 27 Jul 2023, 2:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 58, MIM# 620451

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 58, MIM# 620451
OMIM
616422
Clinvar variants
Variants in TEFM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Jul 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TEFM was added gene: TEFM was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TEFM were set to 36823193 Phenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58, MIM# 620451 Review for gene: TEFM was set to GREEN