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Arthrogryposis

Gene: SYNE1

Amber List (moderate evidence)

SYNE1 (spectrin repeat containing nuclear envelope protein 1)
EnsemblGeneIds (GRCh38): ENSG00000131018
EnsemblGeneIds (GRCh37): ENSG00000131018
OMIM: 608441, Gene2Phenotype
SYNE1 is in 15 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Alice Gardham (Genomics England)

Comment when marking as ready: Arthrogryposis only reported in one family with SYNE1
Created: 22 Dec 2016, 3:06 p.m.

Emma Clement (Great Ormond Street Hospital)

I don't know

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
  • Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
Tags
Q2_21_rating
OMIM
608441
Clinvar variants
Variants in SYNE1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SYNE1 were set to

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: syne1 has been classified as Amber List (Moderate Evidence).

8 Feb 2021, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SYNE1.

8 Feb 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

8 Feb 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: SYNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

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.

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

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

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SYNE1 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SYNE1 was created by ellenmcdonagh