1. Panels
  2. Monogenic short stature
  3. RAPSN
STRs in panel
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Monogenic short stature

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 8 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Fetal akinesia deformation sequence 2, OMIM:618388
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
OMIM
601592
Clinvar variants
Variants in RAPSN
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: RAPSN was added gene: RAPSN was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAPSN were set to Fetal akinesia deformation sequence 2, OMIM:618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326