Laterality disorders and isomerism
Gene: LETM1
LETM1 (leucine zipper and EF-hand containing transmembrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000168924
EnsemblGeneIds (GRCh37): ENSG00000168924
OMIM: 604407, Gene2Phenotype
LETM1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000168924
EnsemblGeneIds (GRCh37): ENSG00000168924
OMIM: 604407, Gene2Phenotype
LETM1 is in 14 panels
1 review
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: LETM1; Suggested initial gene rating: Red; Evidence for inclusion: Possible Wolf-Hirschorn association; Evidence for exclusion: Direct gene mutations not known (contiguous deletion syndrome), isomerism not a major feature. LETM1 candidate for epilepsy.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 12:52 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
- OMIM
- 604407
- Clinvar variants
- Variants in LETM1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Childhood onset hereditary spastic paraplegia
- Likely inborn error of metabolism
- Laterality disorders and isomerism
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Congenital myopathy
- Paediatric or syndromic cardiomyopathy
- Optic neuropathy
- Monogenic hearing loss
- Intellectual disability
History Filter Activity
3 Aug 2023, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: LETM1 were set to
3 Aug 2023, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: LETM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
3 Aug 2023, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: LETM1 were changed from to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
5 Dec 2018, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to LETM1.
5 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: LETM1 was added gene: LETM1 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: LETM1 was set to