Fetal anomalies
Gene: SYNE1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.10
Comment on list classification: Upgraded from Red to Amber but there is sufficient evidence to promote to Green at the next GMS panel update - at least 3 unrelated cases with arthrogryposis multiplex congenita (AMC) which may be detected prenatally.Created: 8 Feb 2021, 3:08 p.m. | Last Modified: 8 Feb 2021, 3:08 p.m.
Panel Version: 1.622
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, 3:05 p.m. | Last Modified: 8 Feb 2021, 3:05 p.m.
Panel Version: 1.621
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
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SYNE1 gene rating from Amber to Red.Created: 24 Mar 2019, 9:26 p.m.
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8.Created: 12 Feb 2019, 2:32 p.m.
Rating in original PAGE file: 'both DD and IF' for EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8.Created: 6 Dec 2018, 10:07 a.m.
Tag Q2_21_rating was removed from gene: SYNE1.
Source Expert Review Green was added to SYNE1. Source NHS GMS was added to SYNE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: SYNE1 were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE to Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484; Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
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.
Source Expert Review Red was added to SYNE1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Source Expert Review Amber was added to SYNE1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 for gene: SYNE1
gene: SYNE1 was added gene: SYNE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYNE1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE