RPL35A

ribosomal protein L35a
OMIM: 180468, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green RPL35A in Bone Marrow Failure Level 2: Haematological disorders Version 1.112 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 5, MIM# 612528 MONDO:0012925 Tags SV/CNV
Green RPL35A in Diamond Blackfan anaemia Level 2: Haematological disorders Version 1.8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 5, MIM# 612528 Tags SV/CNV
Red RPL35A in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Diamond-Blackfan anemia 5, MIM# 612528
Green RPL35A in Mendeliome Version 1.2302	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 5, MIM# 612528 MONDO:0012925 Tags SV/CNV
Green RPL35A in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.15 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anaemia 5, MIM# 612528 MONDO:0012925 Tags SV/CNV
Red RPL35A in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Diamond-Blackfan anemia
Green RPL35A in Red cell disorders Level 2: Haematological disorders Version 1.29	1 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 anaemia 5, MIM# 612528 Tags SV/CNV
Green RPL35A in Fetal anomalies Version 1.313	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 5, OMIM:612528 Diamond-Blackfan anemia 5, MONDO:0012925
Green RPL35A in IBMDx study Version 0.33	1 review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0012925 Diamond-Blackfan anemia 5, MIM# 612528
Green RPL35A in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category C gene BeginNGS Phenotypes Diamond-Blackfan anaemia 5, MIM# 612528 Tags treatable haematological