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Inborn errors of metabolism

Gene: ABCB7

Green List (high evidence)

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

4 reviews

Catherine Snow (Genomics England)

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

Saikat Santra (Birmingham Children's Hospital)

Red List (low evidence)

not clearly associated with a metabolic phenotype
Created: 3 Jan 2017, 11:11 a.m.

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.

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)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 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
OMIM
300135
Clinvar variants
Variants in ABCB7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Nov 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

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

14 Nov 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

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

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ABCB7. Source London North GLH was added to ABCB7.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

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

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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