RPS28

ribosomal protein S28
OMIM: 603685, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber RPS28 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Amber RPS28 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 15 with mandibulofacial dysostosis, MIM# 606164
Amber RPS28 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 Phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Amber RPS28 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Amber RPS28 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.47	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Red RPS28 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 Red Victorian Clinical Genetics Services Phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Red RPS28 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 15 with mandibulofacial dysostosis, MIM#606164
Amber RPS28 in Red cell disorders Level 2: Haematological disorders Version 1.24	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Amber RPS28 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 Cleft palate
Amber RPS28 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164
Red RPS28 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BeginNGS Phenotypes Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164 Tags for review treatable haematological