SRP54

signal recognition particle 54
OMIM: 604857, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green SRP54 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	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 1.1891	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 1.29 Component of the following Super Panels: Immunological disorders_SuperPanel	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 0.285	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	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 1.255	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 0.25	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 BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BeginNGS Phenotypes Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752 Tags treatable immunological