NFU1

NFU1 iron-sulfur cluster scaffold
OMIM: 608100, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green NFU1 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.24 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711
Green NFU1 in Pyruvate dehydrogenase (PDH) deficiency Level 2: Mitochondrial Version 1.39 Latest signed off version: v1.2 (17 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 Multiple mitochondrial dysfunctions syndrome 1, MONDO:0011582
Amber NFU1 in Pulmonary arterial hypertension Level 2: Respiratory Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 Pulmonary hypertension in early infancy
Green NFU1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Green NFU1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.107 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Green NFU1 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.27 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711
Red NFU1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
Green NFU1 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 605711
Green NFU1 in Intellectual disability Level 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711
Green NFU1 in Mitochondrial disorders Level 2: Mitochondrial Version 9.51 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711
Red NFU1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.20 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH