Mitochondrial disorders
Gene: ABCB7

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

3 reviews

Ivone Leong (Genomics England Curator)

Comment on mode of inheritance: Change MOI from "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)" to "X-LINKED: hemizygous mutation in males, biallelic mutations in females" to reflect the MOI that is given to this gene on the "Possible mitochondrial disorder - nuclear genes" (code: 539, v1.12).
Created: 12 Nov 2019, 2:27 p.m. | Last Modified: 12 Nov 2019, 2:27 p.m.

Panel Version: 2.2

Created: 12 Nov 2019, 2:27 p.m.
Last Modified: 12 Nov 2019, 2:27 p.m.
Panel version: 2.2

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Clear disease-causing gene.
Created: 25 Apr 2016, 12:21 p.m.

Comment on list classification: A confirmed DD gene for ANEMIA, SIDEROBLASTIC, WITH ATAXIA.

Created: 22 Apr 2016, 9:39 a.m.

Created: 22 Apr 2016, 9:39 a.m.

Panel version: 0.565

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

mitochondrial iron transporter
Created: 6 Feb 2016, 10:52 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Created: 6 Feb 2016, 10:52 p.m.

Panel version: 0.16

Details

Mode of Inheritance

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).

OMIM

300135

Clinvar variants

Variants in ABCB7

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

12 Nov 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ABCB7. Panel: Mitochondrial disorders

25 Apr 2016, Gel status: 4