Arthrogryposis
Gene: SYNE1The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 11 Mar 2022, 1:41 p.m. | Last Modified: 11 Mar 2022, 1:41 p.m.
Panel Version: 3.154
Comment on list classification: Upgraded from Red to Amber but there is sufficient evidence to promote to Green at the next GMS panel update.Created: 8 Feb 2021, 2:59 p.m. | Last Modified: 8 Feb 2021, 2:59 p.m.
Panel Version: 3.70
Associated with relevant phenotype in OMIM (MIM# 618484) but not yet in Gene2Phenotype.
At least 3 unrelated families with AMC, characterised by decreased fetal movements, hypotonia, skeletal defects, and delayed motor milestones with difficulty walking. Different homozygous truncating variants in SYNE1 were detected, which lead to loss of the KASH domain (PMIDs: 19542096; 24319099; 27782104)
All affecteds lacked pyramidal or cerebellar involvement, highlighting that this represents a distinct disorder from the cerebellar ataxia phenotype also associated with biallelic variants in this gene.Created: 8 Feb 2021, 2:57 p.m. | Last Modified: 8 Feb 2021, 2:57 p.m.
Panel Version: 3.69
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484; Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
Publications
Three families reported with bi-allelic distal truncating variants in this gene (KASH domain). This appears to be a specific genotype-phenotype correlation with variants elsewhere in the gene causing different phenotypes.Created: 12 Jul 2020, 11:02 a.m. | Last Modified: 12 Jul 2020, 11:02 a.m.
Panel Version: 3.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Distal arthrogryposis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Arthrogryposis only reported in one family with SYNE1Created: 22 Dec 2016, 3:06 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
Tag Q2_21_rating was removed from gene: SYNE1.
Source Expert Review Green was added to SYNE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: SYNE1 were set to
Gene: syne1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: SYNE1.
Phenotypes for gene: SYNE1 were changed from Emery-Dreifuss Muscular Dystrophy; Spinocerebellar ataxia, autosomal recessive 8, 610743 to Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484; Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
Mode of inheritance for gene: SYNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
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).
This gene has been classified as Red List (Low Evidence).
SYNE1 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services SYNE1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen SYNE1 was added to Arthrogryposispanel. Source: Model of inheritance for gene SYNE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SYNE1 was added to Arthrogryposispanel. Sources: Expert list
SYNE1 was created by ellenmcdonagh