NDUFB11

NADH:ubiquinone oxidoreductase subunit B11
OMIM: 300403, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Amber NDUFB11 in Pigmentary skin disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Other Phenotypes Linear skin defects with multiple congenital anomalies 3, OMIM:300952
No list NDUFB11 in Mosaic skin disorders - deep sequencing Version 2.47 Latest signed off version: v2.0 (30 Nov 2022)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism) Tags curated_removed
Amber NDUFB11 in Rare anaemia Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Expert Review Amber Wessex and West Midlands GLH Phenotypes sideroblastic anaemia
Green NDUFB11 in Mitochondrial disorder with complex I deficiency Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Phenotypes ?Mitochondrial complex I deficiency, nuclear type 30, 301021 Linear skin defects with multiple congenital anomalies 3, 300952
Green NDUFB11 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Isolated complex I deficiency Linear skin defects with multiple congenital anomalies 3 histiocytoid cardiomyopathy microphthalmia with linear skin defects syndrome
Green NDUFB11 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Linear skin defects with multiple congenital anomalies 3 microphthalmia with linear skin defects syndrome histiocytoid cardiomyopathy Isolated complex I deficiency
Green NDUFB11 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Phenotypes ?Mitochondrial complex I deficiency, nuclear type 30, 301021 Linear skin defects with multiple congenital anomalies 3, 300952
Green NDUFB11 in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green PAGE DD-Gene2Phenotype Phenotypes ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021 Linear skin defects with multiple congenital anomalies 3, OMIM:300952 Cardiomyopathy Agenesis of corpus callosum (ACC)
Green NDUFB11 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green DD-Gene2Phenotype Phenotypes MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
Green NDUFB11 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert list Phenotypes Isolated complex I deficiency Linear skin defects with multiple congenital anomalies 3 histiocytoid cardiomyopathy microphthalmia with linear skin defects syndrome
Red NDUFB11 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red NHS GMS London North GLH Phenotypes Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3, 300952
Green NDUFB11 in Paediatric or syndromic cardiomyopathy Version 3.47 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources MetBioNet Expert Review Green NHS GMS Expert Review Green Phenotypes ?Mitochondrial complex I deficiency, nuclear type 30, 301021 Linear skin defects with multiple congenital anomalies 3, 300952
Red NDUFB11 in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green NDUFB11 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Linear skin defects with multiple congenital anomalies 3, 300952 ?Mitochondrial complex I deficiency, nuclear type 30, 301021