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Arthrogryposis

Gene: SYNE1

Red List (low evidence)

SYNE1 (spectrin repeat containing nuclear envelope protein 1)
EnsemblGeneIds (GRCh38): ENSG00000131018
EnsemblGeneIds (GRCh37): ENSG00000131018
OMIM: 608441, Gene2Phenotype
SYNE1 is in 14 panels

2 reviews

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Emery-Dreifuss Muscular Dystrophy
  • Spinocerebellar ataxia, autosomal recessive 8, 610743
OMIM
608441
Clinvar variants
Variants in SYNE1
Penetrance
Complete
Panels with this gene

History Filter Activity

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

Created

Ellen McDonagh (Genomics England Curator)

SYNE1 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SYNE1 was added to Arthrogryposispanel. Sources: Expert list