RPS29

ribosomal protein S29
OMIM: 603633, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber RPS29 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 13, MIM# 615909
Amber RPS29 in Diamond Blackfan anaemia Level 2: Haematological disorders Version 1.7	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 13, MIM# 615909
Amber RPS29 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 13, MIM# 615909
Amber RPS29 in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 13, MIM# 615909
Amber RPS29 in Red cell disorders Level 2: Haematological disorders Version 1.24	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anaemia 13, MIM# 615909
Amber RPS29 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Diamond-Blackfan anemia 13 - MIM#615909
Green RPS29 in IBMDx study Version 0.25	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 13, MIM# 615909
Red RPS29 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BeginNGS Phenotypes Diamond-Blackfan anaemia 13, MIM# 615909 Tags for review treatable haematological