SRP54

signal recognition particle 54
OMIM: 604857, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green SRP54 in COVID-19 research Level 2: Viral research Version 1.146	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification December 2019 IUIS Classification February 2018 IUIS Classification December 2019 IUIS Classification February 2018 Phenotypes Schwachman Diamond features Congenital defects of phagocyte number or function
Green SRP54 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification December 2019 IUIS Classification February 2018 Phenotypes Congenital defects of phagocyte number or function Schwachman Diamond features Neutropenia, severe congenital, 8, autosomal dominant, 618752
Green SRP54 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neutropenia, severe congenital, 8, autosomal dominant, 618752
Amber SRP54 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Syndromic neutropenia with Shwachman-Diamond-like features Neutropenia, severe congenital, 8, autosomal dominant
Green SRP54 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Syndromic neutropenia with Shwachman-Diamond-like features
Amber SRP54 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Amber Literature Phenotypes Syndromic neutropenia with Shwachman-Diamond-like features Tags watchlist