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  3. ABCB7
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Non-Fanconi anaemia

Gene: ABCB7

Amber List (moderate evidence)
ABCB7 (ATP binding cassette subfamily B member 7)
EnsemblGeneIds (GRCh38): ENSG00000131269
EnsemblGeneIds (GRCh37): ENSG00000131269
OMIM: 300135, Gene2Phenotype
ABCB7 is in 15 panels

2 reviews

Mark Greenslade (Bristol Genetics Laboratory)

Red List (low evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Helen Savage (Congenica Ltd)

Red List (low evidence)

XLR pattern of inheritance in males; no reported cases in females.
Created: 26 Jan 2016, 2:48 p.m.

Mode of inheritance
Unknown

Phenotypes
Sideroblastic anemia with spinocerebellar ataxia

Publications

Created: 26 Jan 2016, 2:48 p.m.

Panel version: 0.228

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Sideroblastic Anemia and Ataxia
  • Anemia, sideroblastic, with ataxia, 301310
OMIM
300135
Clinvar variants
Variants in ABCB7
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCB7 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCB7 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCB7 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCB7 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCB7 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCB7 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCB7 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCB7 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCB7 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen