IUGR and IGF abnormalities
Gene: RAPSN
RAPSN (receptor associated protein of the synapse)
EnsemblGeneIds (GRCh38): ENSG00000165917
EnsemblGeneIds (GRCh37): ENSG00000165917
OMIM: 601592, Gene2Phenotype
RAPSN is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000165917
EnsemblGeneIds (GRCh37): ENSG00000165917
OMIM: 601592, Gene2Phenotype
RAPSN is in 8 panels
4 reviews
Mehul Dattani (UCL Institute of Child Health)
Mode of inheritance
Unknown
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
emma baple (Genomics England Curator)
Comment on list classification: Changed amber to red given three experts have made redCreated: 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