ABCB7

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

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green ABCB7 in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Phenotypes Anemia, sideroblastic, with ataxia, OMIM:301310
Green ABCB7 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Anemia, sideroblastic, with ataxia, OMIM:301310
Green ABCB7 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	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 Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Anemia, sideroblastic, with ataxia, OMIM:301310 Tags missense
Green ABCB7 in Rare anaemia Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Anemia, sideroblastic, with ataxia Sideroblastic Anemia and Ataxia 301310 Sideroblastic Anemia and Ataxia 301310 Sideroblastic anaemia Anemia, sideroblastic, with ataxia, 301310
Green ABCB7 in Iron metabolism disorders - NOT common HFE mutations Version 2.6 Latest signed off version: v2.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes 301310 Anemia, sideroblastic, with ataxia
Red ABCB7 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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 Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Anemia, sideroblastic, with ataxia, Sideroblastic Anemia and Ataxia
Green ABCB7 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of iron homeostasis Anemia, sideroblastic, with ataxia congenital cerebellar hypoplasia/atrophy (PMID: 26242992).
Green ABCB7 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Anemia, sideroblastic, with ataxia OMIM:301310 X-linked sideroblastic anemia with ataxia MONDO:0010524
Green ABCB7 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Phenotypes Anemia, sideroblastic, with ataxia, 301310
Red ABCB7 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes ANEMIA, SIDEROBLASTIC, WITH ATAXIA
Green ABCB7 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310
Red ABCB7 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes ANEMIA, SIDEROBLASTIC, WITH ATAXIA
Green ABCB7 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Expert list Expert Phenotypes Disorders of iron homeostasis Anemia, sideroblastic, with ataxia congenital cerebellar hypoplasia/atrophy (PMID: 26242992).
Amber ABCB7 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Anemia, sideroblastic, with ataxia OMIM:301310 X-linked sideroblastic anemia with ataxia MONDO:0010524
Amber ABCB7 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH Expert Review Amber Phenotypes Anemia, sideroblastic, with ataxia, 301310
Green ABCB7 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Anemia, sideroblastic, with ataxia, 301310