PanelApp
  1. Genes and Genomic Entities
  2. SRP54

SRP54

signal recognition particle 54
OMIM: 604857, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SRP54 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.129

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Syndromic neutropenia with Shwachman-Diamond-like features

    Green SRP54 in Mendeliome


    Version 1.3512

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752

    Green SRP54 in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.44

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752

    Green SRP54 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT
    • SCN8

    Amber SRP54 in Metaphyseal dysplasias

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.5

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • SCN8
    • 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT

    Red SRP54 in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752

    Green SRP54 in IBMDx study


    Version 0.38

    		1 review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Syndromic neutropenia with Shwachman-Diamond-like features

    Green SRP54 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752
    Tags
    • treatable
    • immunological