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Intellectual disability

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 15 panels

5 reviews

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE

Publications

  • 0

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Current ID evidence comes PMID:24123876 (2012) who report a Sicilian brother and sister born of unrelated parents, with mild ID. The authors identified 3 heterozygous missense variants in the SYNE1 gene; the contribution of the variants to ID has not been confirmed and they are listed as variants of unknown significance in OMIM. Primary phenotype for SYNE1 is ataxia (MIM:610743) or muscular dystrophy (MIM:612998). Therefore not currently relevant for ID panel.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998; Spinocerebellar ataxia, autosomal recessive 8, 610743; intellectual disability

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_omim_20150205_movement . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 8:36 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; gilissen_2014_known; omim_20150205_movement; sfari_20150206; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Richard Scott (Genomics England Curator)

Comment on list classification: Phenotype primarily ataxia with cognitive decline thereafter. Is on ataxia (and LGMD panel).
Created: 14 Oct 2016, 8 a.m.
Comment on list classification: Phenotype primarily ataxia with cognitive decline thereafter. Is on ataxia (and LGMD panel).
Created: 14 Oct 2016, 8 a.m.
Comment on list classification: Phenotype primarily ataxia with cognitive decline thereafter. Is on ataxia (and LGMD panel).
Created: 14 Oct 2016, 7:59 a.m.
Comment on list classification: Phenotype primarily ataxia with cognitive decline thereafter. Is on ataxia (and LGMD panel).
Created: 14 Oct 2016, 7:59 a.m.

Lu Raymond (university of cambridge )

Green List (high evidence)

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SYNE1.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene SYNE1 was set to ['26350204', ' 24123876']

14 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

14 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

14 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

14 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SYNE1 was added to Intellectual disabilitypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SYNE1 was created by ellenmcdonagh