1. Panels
  2. BRIDGE_SPEED_NEURO_20170705
  3. RAPSN
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

BRIDGE_SPEED_NEURO_20170705

Gene: RAPSN

Green List (high evidence)
RAPSN (receptor associated protein of the synapse)
EnsemblGeneIds (GRCh38): ENSG00000165917
EnsemblGeneIds (GRCh37): ENSG00000165917
OMIM: 601592, Gene2Phenotype
RAPSN is in 8 panels

2 reviews

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_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 10:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 6:34 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 2:06 p.m.
Created: 31 Jul 2017, 2:06 p.m.

Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931
  • Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, 608931
  • Fetal akinesia deformation sequence, 208150
OMIM
601592
Clinvar variants
Variants in RAPSN
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RAPSN were set to Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, 608931; Fetal akinesia deformation sequence, 208150

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

RAPSN was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

RAPSN was created by LouiseD