Likely inborn error of metabolism - targeted testing not possible
Gene: ABCB7Comment on phenotypes: Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));congenital cerebellar hypoplasia/atrophy (PMID: 26242992).;Disorders of iron homeostasisCreated: 26 May 2021, 7:50 a.m. | Last Modified: 26 May 2021, 7:50 a.m.
Panel Version: 2.136
Comment on mode of inheritance: Changed MOI for consistency amongst other panels. XLR in OMIM.Created: 14 Nov 2019, 10:59 a.m. | Last Modified: 14 Nov 2019, 10:59 a.m.
Panel Version: 1.395
Comment on mode of inheritance: Changed MOI for consistency amongst other panels. XLR in OMIM.Created: 14 Nov 2019, 10:58 a.m. | Last Modified: 14 Nov 2019, 10:58 a.m.
Panel Version: 1.395
not clearly associated with a metabolic phenotypeCreated: 3 Jan 2017, 11:11 a.m.
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)
Phenotypes for gene: ABCB7 were changed from Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Disorders of iron homeostasis to Anemia, sideroblastic, with ataxia OMIM:301310; X-linked sideroblastic anemia with ataxia MONDO:0010524
Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
Source NHS GMS was added to ABCB7. Source London North GLH was added to ABCB7.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Disorders of iron homeostasis; congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: ABCB7 Publications for gene ABCB7 were changed from PMID: 26242992; 17192398; 22398176 to 27604308
gene: ABCB7 was added gene: ABCB7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode 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) Publications for gene: ABCB7 were set to PMID: 26242992; 17192398; 22398176 Phenotypes for gene: ABCB7 were set to congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Disorders of iron homeostasis