Rare anaemia

Gene: NDUFB11

Green List (high evidence)

Comment on phenotypes: OMIM phenotype updated 27th May 2026.

Created: 27 May 2026, 9:11 a.m. | Last Modified: 27 May 2026, 9:11 a.m.

Panel Version: 4.6

Comment on list classification: There are 4 unrelated male probands reported with a recurrent hemizygous p.Phe93del variant in NDUFB11 and sideroblastic anemia. In addition, 2 unrelated male probands have been reported with mild microcytic / normocytic anemia with different NDUFB11 missense variants. The female heterozygous carriers were unaffected. Hence, this gene should be promoted to Green for Rare anaemia, with MOI set to X-LINKED: hemizygous mutation in males, biallelic mutations in females.

Created: 27 May 2026, 9:11 a.m. | Last Modified: 27 May 2026, 9:11 a.m.

Panel Version: 4.4

PMID: 27488349 Lichtenstein et al., 2016
Report of 5 males from 4 families with hemizygous NDUFB11 c.276_278del, p.F93del variant and congenital sideroblastic anemia. Method: WES. Heterozygous females were unaffected, X-inactivation skewing. Recurrent variant, confirmed de novo in one proband, and another proband's mother - posed to occur due to polymerase slipping. Variable syndromic features seen in addition to anemia: short stature (2 families), optic atrophy + DD (1 family), myopathy (2 families), lactic acidosis (1 individual); epilepsy, single kidney, pulmonary stenosis, congenital inguinal hernia (1 individual).

PMID: 30423443 Reinson et al., 2019
Report of two male patients with lactic acidosis, hypertrophic cardiomyopathy and isolated complex I deficiency due to de novo hemizygous mutations (c.286T>C, p.(Ser96Pro) and c.328C>T, p.Pro110Ser) in NDUFB11.
P2 had persistent mild leukopenia and microcytic anemia, P1 had transient normocytic anemia at 2 months, which he recovered from after iron administration.

This gene is linked to XL ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021 and XLD Linear skin defects with multiple congenital anomalies 3, OMIM:300952 (accessed 27th May 2026).

Created: 27 May 2026, 8:41 a.m. | Last Modified: 27 May 2026, 9:09 a.m.

Panel Version: 4.4

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

Phenotypes
?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021; Linear skin defects with multiple congenital anomalies 3, OMIM:300952; sideroblastic anemia, MONDO:0015194

Publications

• 27488349
• 30423443

I don't know

Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NDUFB11; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: not submitted ; Phenotypes: sideroblastic anaemia; PMID(s): none submitted

Created: 6 Feb 2019, 12:14 p.m.

I don't know

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.

Created: 6 Feb 2019, 12:13 p.m.