Arthrogryposis
Gene: SYNE2Comment when marking as ready: no association with arthrogryposisCreated: 22 Dec 2016, 3:03 p.m.
Comment 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
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Red List (Low Evidence).
SYNE2 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services SYNE2 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen SYNE2 was added to Arthrogryposispanel. Source: SYNE2 was added to Arthrogryposispanel. Source: Expert Review Red Model of inheritance for gene SYNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SYNE2 was added to Arthrogryposispanel. Sources: Expert list
SYNE2 was created by ellenmcdonagh