Cytopenias and congenital anaemias

Gene: ABCB7

Comment 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 Ataxia

Created: 7 Jul 2021, 7:52 a.m. | Last Modified: 7 Jul 2021, 7:52 a.m.

Panel Version: 1.85

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

• PMID 10196363
• 11050011
• 22398176
• 11843825

Mode of pathogenicity
Other

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

• 20408841
• 24255920

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