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Rare anaemia v4.6 NDUFB11 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 27th May 2026.
Rare anaemia v4.6 NDUFB11 Ida Ertmanska Phenotypes for gene: NDUFB11 were changed from sideroblastic anaemia to ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021; Linear skin defects with multiple congenital anomalies 3, OMIM:300952; sideroblastic anemia, MONDO:0015194
Rare anaemia v4.5 NDUFB11 Ida Ertmanska Publications for gene: NDUFB11 were set to 27488349
Rare anaemia v4.4 NDUFB11 Ida Ertmanska commented on gene: NDUFB11: 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.
Rare anaemia v4.4 NDUFB11 Ida Ertmanska changed review comment from: 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.286C>T and c.328C>T) 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).; to: 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).
Rare anaemia v4.4 NDUFB11 Ida Ertmanska edited their review of gene: NDUFB11: Changed phenotypes to: ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021, Linear skin defects with multiple congenital anomalies 3, OMIM:300952, sideroblastic anemia, MONDO:0015194
Rare anaemia v4.4 NDUFB11 Ida Ertmanska edited their review of gene: NDUFB11: Changed publications to: 27488349, 30423443
Rare anaemia v4.4 NDUFB11 Ida Ertmanska changed review comment from: 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).

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).; to: 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.286C>T and c.328C>T) 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).
Rare anaemia v4.4 NDUFB11 Ida Ertmanska Publications for gene: NDUFB11 were set to
Rare anaemia v4.3 NDUFB11 Ida Ertmanska Mode of inheritance for gene: NDUFB11 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare anaemia v4.2 NDUFB11 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: NDUFB11.
Rare anaemia v4.2 NDUFB11 Ida Ertmanska reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27488349; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021, Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare anaemia v0.6 NDUFB11 Louise Daugherty reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 NDUFB11 Carl Fratter reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.4 NDUFB11 Louise Daugherty Source NHS GMS was added to NDUFB11.
Rare anaemia v0.3 NDUFB11 Louise Daugherty Source Expert Review Amber was added to NDUFB11.
Added phenotypes sideroblastic anaemia for gene: NDUFB11
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Rare anaemia v0.2 NDUFB11 Louise Daugherty gene: NDUFB11 was added
gene: NDUFB11 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: NDUFB11 was set to