Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: SYNJ1

Green List (high evidence)

SYNJ1 (synaptojanin 1)
EnsemblGeneIds (GRCh38): ENSG00000159082
EnsemblGeneIds (GRCh37): ENSG00000159082
OMIM: 604297, Gene2Phenotype
SYNJ1 is in 8 panels

4 reviews

Louise Daugherty (Genomics England Curator)

As a result of watchlist tag audit the watchlist tag was removed from SYNJ1- this is now a green gene with sufficient evidence/review. Tag was noted as removed but was not updated in the database.
Created: 13 Jan 2020, 4:16 p.m. | Last Modified: 13 Jan 2020, 4:16 p.m.
Panel Version: 3.0

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_movement_disorder_list . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:36 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : manju_list; neuro_20160418_strict; NA. 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

  • Personal communication with NIHRBRRD BRIDGE SPEED

Rebecca Foulger (Genomics England curator)

Removed 'watchlist' tag when updated rating to Green.
Created: 12 Jun 2017, 11:55 a.m.
Comment on list classification: Updated rating from Red to Green based on infantile epileptic encephalopathy cases reported in 3 families in PMID:27435091 and advice from Arianna Tucci.
Created: 12 Jun 2017, 11:54 a.m.

Ellen McDonagh (Genomics England Curator)

Added the 'watchlist' tag. PMID: 27435091 "We performed whole exome or genome sequencing in three independent sib pairs with early onset refractory seizures and progressive neurological decline, and identified novel segregating recessive SYNJ1 defects. A homozygous missense variant resulting in an amino acid substitution (p.Tyr888Cys) was found to impair, but not abolish, the dual phosphatase activity of SYNJ1, whereas three premature stop variants (homozygote p.Trp843* and compound heterozygote p.Gln647Argfs*6/p.Ser1122Thrfs*3) almost completely abolished mRNA transcript production."
Created: 15 Dec 2016, 11:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
early onset refractory seizures and progressive neurological decline

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • early onset refractory seizures and progressive neurological decline
  • Epileptic encephalopathy, early infantile, 53, 617389
OMIM
604297
Clinvar variants
Variants in SYNJ1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: SYNJ1.

12 Mar 2018, Gel status: 3

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.

12 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

12 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

12 Jun 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SYNJ1 were set to early onset refractory seizures and progressive neurological decline; Epileptic encephalopathy, early infantile, 53, 617389

15 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SYNJ1 was added to Intellectual disabilitypanel. Sources: Literature

15 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SYNJ1 was created by ellenmcdonagh