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STRs in panel
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Cardiomyopathies - including childhood onset

Gene: NEBL

Red List (low evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

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.
DCM: Purevjav 2010 J Am Coll Cardiol. 56(18): 14931502. LVNC/DCM?HCM paper Perrot 2016 - DOI: 10.5114/aoms.2016.59250. Four DM variants on HGMD but two have been downgraded by us. Experience in lab suggests the variants detected are have high frequency.
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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
OMIM
605491
Clinvar variants
Variants in NEBL
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NEBL.

4 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: NEBL was added gene: NEBL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted