IUGR and IGF abnormalities

Gene: RAPSN

Red List (low evidence)

RAPSN (receptor associated protein of the synapse)
EnsemblGeneIds (GRCh38): ENSG00000165917
EnsemblGeneIds (GRCh37): ENSG00000165917
OMIM: 601592, Gene2Phenotype
RAPSN is in 10 panels

4 reviews

Mehul Dattani (UCL Institute of Child Health)

Red List (low evidence)

Mode of inheritance
Unknown

Philip Murray (University of Manchester)

Red List (low evidence)

Peter Clayton (University of Manchester)

Red List (low evidence)

emma baple (Genomics England Curator)

Comment on list classification: Changed amber to red given three experts have made red
17 Dec 2015, 11:49 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Fetal Akinesia Deformation Sequence
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptordeficiency, 608931Fetal akinesia deformation sequence, 208150
OMIM
601592
Clinvar variants
Variants in RAPSN
Penetrance
Complete
Panels with this gene

History Filter Activity

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

RAPSN was added to IUGR and IGF abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

RAPSN was added to IUGR and IGF abnormalitiespanel. Sources: Illumina TruGenome Clinical Sequencing Services