Congenital muscular dystrophy
Gene: SYNE1
congenital phenotype described in two families (27782104; 19542096). mutations in this gene can also cause a range of phenotypes from ataxia to arthrogryposisCreated: 26 Jan 2017, 4:25 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8)
Publications
Comment on list classification: After internal discussion, was agreed to promote this to green due to the range of phenotypes associated with variants in this gene.Created: 27 Jan 2017, 1:58 p.m.
Comment on mode of inheritance: Heterozygotes and homozygotes reported.Created: 25 Jan 2017, 12:41 p.m.
Comment on list classification: It is a green gene on the Limb girdle muscular dystrophy gene panel Version 1.0.Created: 25 Jan 2017, 12:40 p.m.
causes variety of neuromuscular presentations whilst these are not the more classic CMD there is a wide phenotypic spectrum (AD/ AR inheritance cerebellar ataxia or hypotonia and contratcures). Could make a case for this being a green gene.Created: 19 Dec 2016, 11:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Emery-Dreifuss Muscular Dystrophy; Spinocerebellar ataxia, autosomal recessive 8, 610743
Phenotypes for gene: SYNE1 were changed from Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998; complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8) to Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998; Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
Source was removed from SYNE1. Source NHS GMS was added to SYNE1.
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998;complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8)
Publications for SYNE1 were set to 27782104; 19542096
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SYNE1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
SYNE1 was added to Congenital muscular dystrophypanel. Source:
Model of inheritance for gene SYNE1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SYNE1 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
SYNE1 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen