1. Panels
  2. Dilated Cardiomyopathy and conduction defects
  3. NEBL
STRs in panel
Prev Next
Regions in panel
Prev Next

Dilated Cardiomyopathy and conduction defects

Gene: NEBL

Red List (low evidence)
NEBL (nebulette)
EnsemblGeneIds (GRCh38): ENSG00000078114
EnsemblGeneIds (GRCh37): ENSG00000078114
OMIM: 605491, Gene2Phenotype
NEBL is in 4 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

No phenotype on OMIM. DCM, HCM and LVNC in literature
Created: 25 Mar 2019, 4:30 p.m.
Literature: Purevjav J Am Coll Cardiol. 2010 October 26; 56(18): 14931502 - a number of variants assoc with DCM and mouse models but high frequency in GnomAD. Perrot 2016: Arch Med Sci 2016; 12, 2: 263278, six variants reported and expanded phenotype to HCM and LVNC. Three have frequencies higher than expected for disease causing variant. HGMD: Nine variants assoc DCM, only 3 classed as DM - two of these have high freq and we have down graded to LB. No segregation as far as I can see.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.55

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list
  • Emory Genetics Laboratory
OMIM
605491
Clinvar variants
Variants in NEBL
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to NEBL. Mode of inheritance for gene NEBL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NEBL was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Emory Genetics Laboratory,Expert list

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NEBL was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Emory Genetics Laboratory,Expert list