SRPRA:Ensemblv115

SRP receptor subunit alpha
OMIM: 182180, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SRPRA in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Schwachman-Diamond syndrome MONDO:0009833, SRPA-related

Amber SRPRA in Phagocyte Defects


Level 2: Immunological disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Schwachman-Diamond syndrome MONDO:0009833, SRPA-related