ABCB7

ATP binding cassette subfamily B member 7
OMIM: 300135, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ABCB7 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anemia, sideroblastic, with ataxia, MIM# 301310
Green ABCB7 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anaemia, sideroblastic, with ataxia, MIM# 301310
Green ABCB7 in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Anaemia, sideroblastic, with ataxia, MIM# 301310
Red ABCB7 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Anaemia, sideroblastic, with ataxia, MIM# 301310
Green ABCB7 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Anemia, sideroblastic, with ataxia Sideroblastic Anemia and Ataxia Anemia, sideroblast with ataxia, 300135
Green ABCB7 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Anemia, sideroblastic, with ataxia, 301310 (3)
Red ABCB7 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category C gene Phenotypes Sideroblastic anaemia and ataxia
Green ABCB7 in Red cell disorders Level 2: Haematological disorders Version 1.24	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Phenotypes Anaemia, sideroblastic, with ataxia, MIM# 301310
Green ABCB7 in Metal Metabolism Disorders Level 2: Metabolic disorders Version 0.45 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 301310 Anemia, sideroblastic, with ataxia
Red ABCB7 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Anaemia, sideroblastic, with ataxia, MIM# 301310
Green ABCB7 in IBMDx study Version 0.25	review	Unknown	Sources Expert Review Green IBMDx Study Phenotypes Anemia, sideroblastic, with ataxia, MIM# 301310
Green ABCB7 in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Anemia, sideroblastic, with ataxia, 301310 (3)
Red ABCB7 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Sideroblastic anaemia and ataxia