RPS29

Amber RPS29 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

Sources

• Expert Review Amber
• Other

Phenotypes

• Diamond-Blackfan anemia 13

Tags

• watchlist

Green RPS29 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.18

Sources

• Curated sources
• Expert Review Green

Phenotypes

• Class: BM failure syndrome (typ AR)
• Diamond Blackfan Anemia
• MDS, AML
• Osteosarcoma, soft tissue sarcomas

Red RPS29 in Limb disorders

Version 5.2
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services

Phenotypes

• Radial Ray abnormality

Amber RPS29 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

Sources

• Expert Review Amber
• Expert list

Phenotypes

• Diamond-Blackfan anemia 13 615909

Green RPS29 in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Curated sources

Phenotypes

• Class: BM failure syndrome (typ AR)
• Diamond Blackfan Anemia
• MDS, AML
• Osteosarcoma, soft tissue sarcomas

Green RPS29 in Rare anaemia

Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• North West GLH
• Yorkshire and North East GLH
• London South GLH
• NHS GMS
• Expert Review Green
• Wessex and West Midlands GLH

Phenotypes

• 615909 Diamond-Blackfan anemia 13
• Diamond-Blackfan anemia 13, 615909

Green RPS29 in Cytopenia - NOT Fanconi anaemia

Version 3.34
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• London South GLH
• NHS GMS
• Wessex and West Midlands GLH

Phenotypes

• Diamond-Blackfan anemia 13, 615909
• Diamond-Blackfan anaemia