SBDS

SBDS, ribosome maturation factor
OMIM: 607444, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green SBDS in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.16	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes Class: BM failure syndrome (typ AR) AML MDS Schwachman-Diamond syndrome MDS, AML
Green SBDS in COVID-19 research Level 2: Viral research Version 1.141	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Congenital neutropaenia v1.22 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Congenital neutropaenia v1.22 Phenotypes Shwachman-Bodian-Diamond syndrome Shwachman-Diamond-syndrome Shwachman-Diamond syndrome, 260400 Congenital defects of phagocyte number or function Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia
Green SBDS in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Congenital neutropaenia v1.22 Phenotypes Shwachman-Diamond syndrome, 260400 Shwachman-Bodian-Diamond syndrome Shwachman-Diamond-syndrome Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia Congenital defects of phagocyte number or function
Green SBDS in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing UKGTN Expert list Phenotypes Shwachman-Diamond syndrome 260400
Green SBDS in Haematological malignancies cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes Class: BM failure syndrome (typ AR) AML MDS Schwachman-Diamond syndrome MDS, AML
Green SBDS in Rare anaemia Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green North West GLH Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH Phenotypes Shwachman-Diamond syndrome 260400 Shwachman-Diamond syndrome
Green SBDS in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review UKGTN Expert list Radboud University Medical Center, Nijmegen Phenotypes Shwachman-Diamond syndrome 260400 Shwachman-Diamond syndrome 260400
Green SBDS in Cytopenia - NOT Fanconi anaemia Version 3.32 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Shwachman-Diamond syndrome, 260400 260400 Shwachman-Diamond syndrome Shwachman-Diamond syndrome 260400
Green SBDS in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes SHWACHMAN-DIAMOND SYNDROME
Green SBDS in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHWACHMAN-DIAMOND SYNDROME 607444
Red SBDS in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Shwachman-Bodian-Diamond syndrome, 260400
Green SBDS in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.170	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Expert list Phenotypes Skeletal Ciliopathies
Green SBDS in Skeletal ciliopathies Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 3.21 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list UKGTN Phenotypes Skeletal Ciliopathies
Red SBDS in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green SBDS in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Shwachman-Diamond syndrome, 260400