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Cytopenias and congenital anaemias

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 16 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient cases for inclusion
Created: 28 Feb 2017, 1:06 p.m.
Comment on mode of pathogenicity: missense described to date but only small numbers
Created: 28 Feb 2017, 1:05 p.m.
4 independent families reported with missense mutations only. Haematological abnormalities mild and often not the cause of presentation but consistent across families. Carrier mother noted to have red cell hypochromia in one report, but no evidence of neurological phenotype.
Created: 13 Feb 2017, 11:33 a.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
Anemia, sideroblastic, with ataxia 301310

Publications

Mode of pathogenicity
Other

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Microcytic anemia; Anemia, sideroblastic, with ataxia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sideroblastic Anemia and Ataxia
  • Anemia, sideroblastic, with ataxia, 301310
Tags
missense
OMIM
300135
Clinvar variants
Variants in ABCB7
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for ABCB7 were set to 20408841; 24255920; 10196363; 11050011; 22398176; 11843825

28 Feb 2017, Gel status: 4

Set mode of pathogenicity

Helen Brittain (Genomics England Curator)

Mode of pathogenicity for ABCB7 was changed to Other - please provide details in the comments

28 Feb 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for ABCB7 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

ABCB7 was created by LouiseD

17 Feb 2017, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

ABCB7 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen