Congenital muscular dystrophy
Gene: SYNE2Comment on list classification: Demoted to red from amber due to expert review.Created: 19 Dec 2016, 2:28 p.m.
less reports than for SYNE1, causes EDMD type phenotype, onet outside congenital period.Created: 19 Dec 2016, 11:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999
Source was removed from SYNE2.
Phenotypes for gene: SYNE2 were changed from Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 to Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
SYNE2 was added to Congenital muscular dystrophypanel. Source:
Model of inheritance for gene SYNE2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SYNE2 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
SYNE2 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen