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  2. Respiratory ciliopathies including non-CF bronchiectasis
  3. ORMDL3
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: ORMDL3

Red List (low evidence)
ORMDL3 (ORMDL sphingolipid biosynthesis regulator 3)
EnsemblGeneIds (GRCh38): ENSG00000172057
EnsemblGeneIds (GRCh37): ENSG00000172057
OMIM: 610075, Gene2Phenotype
ORMDL3 is in 1 panel

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: ORMDL3; Suggested initial gene rating: Red; Evidence for inclusion: Low-penetrance asthma association.; Evidence for exclusion: Not substantiated by multiple reports, associated SNPs are non-coding.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 1:54 p.m.
Created: 5 Dec 2018, 1:54 p.m.

Panel version: 0.2

Details

Sources
  • Expert Review Red
  • NHS GMS
OMIM
610075
Clinvar variants
Variants in ORMDL3
Penetrance
None
Panels with this gene

History Filter Activity

5 Dec 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to ORMDL3.

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ORMDL3 was added gene: ORMDL3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: ORMDL3 was set to