1. Panels
  2. Neuromuscular arthrogryposis
  3. RAPSN
STRs in panel
Prev Next
Regions in panel
Prev Next

Neuromuscular arthrogryposis

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

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: 28 Apr 2019, 6:36 p.m.
Created: 28 Apr 2019, 6:36 p.m.

Panel version: 0.4

Michael Oldridge (NHS)

Green List (high evidence)

multiple reports
Created: 28 Apr 2019, 6:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
208150; FETAL AKINESIA DEFORMATION SEQUENCE; FADS

Publications

Created: 28 Apr 2019, 6:34 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • FADS
  • FETAL AKINESIA DEFORMATION SEQUENCE, 208150
OMIM
601592
Clinvar variants
Variants in RAPSN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RAPSN.

10 May 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RAPSN were changed from FADS; 208150; FETAL AKINESIA DEFORMATION SEQUENCE to FADS; FETAL AKINESIA DEFORMATION SEQUENCE, 208150

10 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RAPSN were set to 18179903, 14504330

28 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to RAPSN. Rating Changed from Red List (low evidence) to Green List (high evidence)

28 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: RAPSN was added gene: RAPSN was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAPSN were set to 18179903, 14504330 Phenotypes for gene: RAPSN were set to FADS; 208150; FETAL AKINESIA DEFORMATION SEQUENCE