SRP72

signal recognition particle 72
OMIM: 602122, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SRP72 in COVID-19 research Level 2: Viral research Version 1.142	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources IUIS Classification December 2019 Expert Review Green Phenotypes Bone marrow failure syndrome 1, 614675
Amber SRP72 in Inherited predisposition to acute myeloid leukaemia (AML) Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber North West GLH Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH Phenotypes 602122 (OMIN gene description ID) 602122 Bone marrow failure syndrome 1
No list SRP72 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Research Literature Phenotypes Familial MDS/AML inherited bone marrow failure syndromes (IBMFS) congenital neutropenia Shwachman-Diamond syndrome
Red SRP72 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia Bone Marrow Failure, Familial Bone marrow failure, familial, 614675 Familial Bone Marrow Failure Familial MDS (Myelodysplastic syndromes) Bone Marrow Failure, Familial Tags watchlist
Amber SRP72 in Cytopenia - NOT Fanconi anaemia Version 3.33 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber North West GLH Yorkshire and North East GLH London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia Bone marrow failure, familial, 614675 Familial MDS (Myelodysplastic syndromes) Bone Marrow Failure, Familial 614675 Bone marrow failure syndrome 1 Familial Bone Marrow Failure