Mitochondrial disease
Gene: ABCB7

ABCB7 (ATP binding cassette subfamily B member 7)
EnsemblGeneIds (GRCh38): ENSG00000131269
EnsemblGeneIds (GRCh37): ENSG00000131269
OMIM: 300135, Gene2Phenotype
ABCB7 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ABC7 is an ortholog of the yeast ATM1 gene, whose product localizes to the mitochondrial inner membrane and is involved in iron homeostasis.

At least 3 unrelated families reported, functional data.
Created: 4 Apr 2021, 10:38 a.m. | Last Modified: 4 Apr 2021, 10:38 a.m.

Panel Version: 0.589

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Anaemia, sideroblastic, with ataxia, MIM# 301310

Publications

Created: 4 Apr 2021, 10:38 a.m.
Last Modified: 4 Apr 2021, 10:38 a.m.
Panel version: 0.589

Details

Mode of Inheritance

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

OMIM

300135

Clinvar variants

Variants in ABCB7

Penetrance

None

Publications

Panels with this gene