Anaemias and red cell disorders

Gene: ABCB7

Green List (high evidence)

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