Mitochondrial disorders
Gene: ABCB7Comment 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
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.
mitochondrial iron transporterCreated: 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)
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
Victorian Clinical Genetics Services was added to ABCB7. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ABCB7 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for ABCB7 were set to PMID: 26242992; 22398176; 17192398
Publications for ABCB7 were set to PMID: 26242992; 22398176
Publications for ABCB7 were set to PMID: 26242992; 22398176
Phenotypes for ABCB7 were set to Disorders of iron homeostasis; Anemia, sideroblastic, with ataxia; congenital cerebellar hypoplasia/atrophy (PMID: 26242992).
Publications for ABCB7 were set to PMID: 26242992
Phenotypes for ABCB7 were set to Disorders of iron homeostasis; Anemia, sideroblastic, with ataxia
ABCB7 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list
ABCB7 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list