Paediatric or syndromic cardiomyopathy
Gene: NEBL
NEBL (nebulette)
EnsemblGeneIds (GRCh38): ENSG00000078114
EnsemblGeneIds (GRCh37): ENSG00000078114
OMIM: 605491, Gene2Phenotype
NEBL is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000078114
EnsemblGeneIds (GRCh37): ENSG00000078114
OMIM: 605491, Gene2Phenotype
NEBL is in 4 panels
2 reviews
Ivone Leong (Genomics England Curator)
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)
No phenotype on OMIM. DCM, HCM and LVNC in literatureCreated: 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