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  2. GMS Respiratory specialist test group Laterality disorders and isomerism
  3. LETM1
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GMS Respiratory specialist test group Laterality disorders and isomerism

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 14 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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 intial 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 given
Created: 26 Nov 2018, 2:25 p.m.
Created: 26 Nov 2018, 2:25 p.m.

Panel version: 0.1

History Filter Activity

26 Nov 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to LETM1.

26 Nov 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 GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: LETM1 was set to