Congenital myaesthenic syndrome

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 10 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

Green List (high evidence)

see PanelApp
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: 1 Green review plus >3 cases of RAPSN mutations causing myasthenic syndrome, plus DD-G2P confirmed gene.
Created: 31 Jan 2017, 1:50 p.m.
Comment on phenotypes: Respiratory insufficiency due to muscle weakness is a reported phenotype of myaesthenia.
Created: 31 Jan 2017, 1:50 p.m.
Plenty of cases in varied populations of RAPSN mutations causing congenital myasthenic syndrome (OMIM:616326)- recorded in OMIM and literature.
Created: 31 Jan 2017, 1:48 p.m.
Confirmed DD-G2P gene for CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY.
Created: 31 Jan 2017, 1:46 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 31 Jan 2017, 1:44 p.m.

David Beeson (Oxford University)

Green List (high evidence)

Covered by Oxford Congenital Myasthenia Service
Created: 25 Jan 2017, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome; acute respiratory crises; late and early onset

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Congenital Myasthenic Syndrome, Recessive
  • Congenital myasthenic syndrome
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326
  • acute respiratory crises
  • late and early onset
OMIM
601592
Clinvar variants
Variants in RAPSN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RAPSN.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to RAPSN. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

31 Jan 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).

31 Jan 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for RAPSN were set to Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset

31 Jan 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for RAPSN was changed to BIALLELIC, autosomal or pseudoautosomal

31 Jan 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for RAPSN were set to Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326

31 Jan 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for RAPSN were set to 11791205; 16945936; 15145336; 14504330

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

RAPSN was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

RAPSN was added to Congenital myaestheniapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

RAPSN was added to Congenital myaestheniapanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

RAPSN was added to Congenital myaestheniapanel. Sources: UKGTN