Cytopenias and congenital anaemias
Gene: ABCB7Comment on mode of inheritance: MOI changed from "X-LINKED: hemizygous mutation in males, biallelic mutations in females" to "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)" as some carrier females have ring sideroblasts, dimorphic peripheral bloode smear, hypochromic and microcytic erythrocytes but no evidence of ataxia.Created: 19 Jul 2021, 12:20 p.m. | Last Modified: 19 Jul 2021, 12:20 p.m.
Panel Version: 1.86
Comment on phenotypes: Previously:
Sideroblastic Anemia and AtaxiaCreated: 7 Jul 2021, 7:52 a.m. | Last Modified: 7 Jul 2021, 7:52 a.m.
Panel Version: 1.85
Comment when marking as ready: Sufficient cases for inclusionCreated: 28 Feb 2017, 1:06 p.m.
Comment on mode of pathogenicity: missense described to date but only small numbersCreated: 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
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCB7 were changed from Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310 to Anemia, sideroblastic, with ataxia, OMIM:301310
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Publications for ABCB7 were set to 20408841; 24255920; 10196363; 11050011; 22398176; 11843825
Mode of pathogenicity for ABCB7 was changed to Other - please provide details in the comments
Mode of inheritance for ABCB7 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
ABCB7 was created by LouiseD
ABCB7 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen