SRP54:Ensemblv115

signal recognition particle 54
OMIM: 604857, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green SRP54 in Bone Marrow Failure Level 2: Haematological disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Syndromic neutropenia with Shwachman-Diamond-like features
Green SRP54 in Phagocyte Defects Level 2: Immunological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752
Green SRP54 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT SCN8
Amber SRP54 in Metaphyseal dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes SCN8 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT
Green SRP54 in IBMDx study Version 1.0	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green IBMDx Study Expert Review Green Phenotypes Syndromic neutropenia with Shwachman-Diamond-like features
Green SRP54 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Green Phenotypes Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752 Tags treatable immunological