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  3. NFU1
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Leukodystrophy - paediatric

Gene: NFU1

Green List (high evidence)
NFU1 (NFU1 iron-sulfur cluster scaffold)
EnsemblGeneIds (GRCh38): ENSG00000169599
EnsemblGeneIds (GRCh37): ENSG00000169599
OMIM: 608100, Gene2Phenotype
NFU1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene cause multiple mitochondrial dysfunctions syndrome, a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death. Cavitating leukodystrophy and other white matter changes described in multiple affected individuals.
Created: 15 Sep 2020, 10:59 p.m. | Last Modified: 15 Sep 2020, 10:59 p.m.
Panel Version: 0.191

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711

Publications

Created: 15 Sep 2020, 10:59 p.m.
Last Modified: 15 Sep 2020, 10:59 p.m.
Panel version: 0.191

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1, MIM#605711
OMIM
608100
Clinvar variants
Variants in NFU1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfu1 has been classified as Green List (High Evidence).

15 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NFU1 were set to 29441221

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NFU1 was added gene: NFU1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 29441221 Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, MIM#605711