RPL11

ribosomal protein L11
OMIM: 604175, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green RPL11 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 7, MIM# 612562 MONDO:0012938
Green RPL11 in Diamond Blackfan anaemia Level 2: Haematological disorders Version 1.7	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 7, MIM# 612562 MONDO:0012938
Red RPL11 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Diamond-Blackfan anemia 7
Amber RPL11 in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.9	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 7, MIM# 612562 MONDO:0012938
Green RPL11 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 7, MIM# 612562 MONDO:0012938
Green RPL11 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.47	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green RPL11 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 Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anaemia 7, MIM# 612562 MONDO:0012938
Red RPL11 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Diamond-Blackfan anemia 7, MIM#612562
Green RPL11 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Diamond-Blackfan anemia
Green RPL11 in Red cell disorders Level 2: Haematological disorders Version 1.24	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green 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 anemia 7, MIM# 612562 MONDO:0012938
Amber RPL11 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Diamond-Blackfan anemia 7, MIM# 612562 Cleft palate
Green RPL11 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia with cleft palate and abnormal thumbs Diamond-Blackfan anaemia 7, MIM# 612562 MONDO:0012938
Green RPL11 in IBMDx study Version 0.25	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 7, MIM# 612562 MONDO:0012938
Green RPL11 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Diamond-Blackfan anaemia, MIM#612562 Tags treatable haematological