| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dilated Cardiomyopathy and conduction defects v1.55 | NEBL | Rebecca Whittington commented on gene: NEBL: No phenotype on OMIM. DCM, HCM and LVNC in literature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.54 | NEBL | Rebecca Whittington commented on gene: NEBL: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.53 | NEBL | Rebecca Whittington reviewed gene: NEBL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.47 | NEBL |
Ellen McDonagh Source South West GLH was added to NEBL. Mode of inheritance for gene NEBL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||