PUS1

pseudouridylate synthase 1
OMIM: 608109, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green PUS1 in Bone Marrow Failure Level 2: Haematological disorders Version 1.112 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
Green PUS1 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
Green PUS1 in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Green PUS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Green PUS1 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.20 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553
Green PUS1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)
Green PUS1 in Red cell disorders Level 2: Haematological disorders Version 1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	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 Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Green PUS1 in IBMDx study Version 0.33	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IBMDx Study Victorian Clinical Genetics Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
Green PUS1 in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)
Green PUS1 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)