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  3. RAPSN
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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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

15-20% of congenital myasthenic syndrome is caused by RAPSN mutations
Created: 22 Dec 2016, 3:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence 208150 ; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 616326

Publications

Created: 22 Dec 2016, 3:46 p.m.

Panel version: 1.101

Details

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

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

22 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for RAPSN were set to 19261599; 20301347

21 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

RAPSN was added to Arthrogryposispanel. Source: UKGTN RAPSN was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services RAPSN was added to Arthrogryposispanel. Source: Emory Genetics Laboratory RAPSN was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene RAPSN was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RAPSN was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RAPSN was added to Arthrogryposispanel. Sources: Expert list