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Inborn errors of metabolism

Gene: LETM1

Red List (low evidence)

LETM1 (leucine zipper and EF-hand containing transmembrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000168924
EnsemblGeneIds (GRCh37): ENSG00000168924
OMIM: 604407, Gene2Phenotype
LETM1 is in 3 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

A lot of functional evidence that this is encodes an important mitochondrial protein; however, no published cases to link to human disease that I can find.
Created: 30 Aug 2018, 5:59 a.m.

Shamima Rahman (UCL Institute of Child Health)

I don't know

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
OMIM
604407
Clinvar variants
Variants in LETM1
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: LETM1 was added gene: LETM1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LETM1 was set to Unknown Phenotypes for gene: LETM1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)