Genomics England
GMS Panels
Panels
Genes and Entities

SRP54

signal recognition particle 54
OMIM: 604857
PanelMode of inheritanceDetails
3 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neutropenia, severe congenital, 8, autosomal dominant, 618752
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Syndromic neutropenia with Shwachman-Diamond-like features
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital defects of phagocyte number or function, Schwachman Diamond features, Neutropenia, severe congenital, 8, autosomal dominant, 618752