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  2. Familial non syndromic congenital heart disease
  3. RPSA
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Familial non syndromic congenital heart disease

Gene: RPSA

Red List (low evidence)
RPSA (ribosomal protein SA)
EnsemblGeneIds (GRCh38): ENSG00000168028
EnsemblGeneIds (GRCh37): ENSG00000168028
OMIM: 150370, Gene2Phenotype
RPSA is in 3 panels

1 review

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Phenotype is of isolated asplenia leading to immunological problems. Not clearly part of asplenia in relation to situs anomalies, therefore not considered an appropriate heterotaxy phenotype for this panel.
Created: 4 Jul 2017, 7:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Asplenia, isolated congenital, 271400

Created: 4 Jul 2017, 7:24 a.m.

Panel version: 1.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Asplenia, isolated congenital, 271400
OMIM
150370
Clinvar variants
Variants in RPSA
Penetrance
Complete
Panels with this gene

History Filter Activity

4 Jul 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

4 Jul 2017, Gel status: 1

Added New Source

Helen Brittain (Genomics England Curator)

RPSA was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen

4 Jul 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

RPSA was created by helen.brittain