TSR2

TSR2, ribosome maturation factor
OMIM: 300945, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red TSR2 in Bone Marrow Failure Level 2: Haematological disorders Version 1.112 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Red TSR2 in Diamond Blackfan anaemia Level 2: Haematological disorders Version 1.8	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Red TSR2 in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.12	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Red TSR2 in Mendeliome Version 1.2302	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Red TSR2 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.47	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Red TSR2 in Red cell disorders Level 2: Haematological disorders Version 1.29	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Red TSR2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946 Cleft palate
Red TSR2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BeginNGS Phenotypes Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946