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Arthrogryposis

Gene: SYNE2

Red List (low evidence)

SYNE2 (spectrin repeat containing nuclear envelope protein 2)
EnsemblGeneIds (GRCh38): ENSG00000054654
EnsemblGeneIds (GRCh37): ENSG00000054654
OMIM: 608442, Gene2Phenotype
SYNE2 is in 5 panels

3 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: no association with arthrogryposis
Created: 22 Dec 2016, 3:03 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted to red from amber due to expert review.
Created: 19 Dec 2016, 2:28 p.m.

Emma Clement (Great Ormond Street Hospital)

Red List (low evidence)

less reports than for SYNE1, causes EDMD type phenotype, onet outside congenital period.
Created: 19 Dec 2016, 11:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Emery-Dreifuss Muscular Dystrophy
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999
OMIM
608442
Clinvar variants
Variants in SYNE2
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).

21 Dec 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SYNE2 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services SYNE2 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen SYNE2 was added to Arthrogryposispanel. Source: SYNE2 was added to Arthrogryposispanel. Source: Expert Review Red Model of inheritance for gene SYNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SYNE2 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SYNE2 was created by ellenmcdonagh