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Prepair 1000+

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

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

1. Multiple mitochondrial dysfunctions syndrome 1 (MIM# 605711)
- 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.
- OMIM: Onset soon after birth, death in infancy or early childhood

2. Spastic paraplegia 93 (MIM# 620938)
- Characterized by a spectrum of early-onset pure to complex hereditary spastic paraplegia phenotypes associated with a longer survival on one end and neurodevelopmental delay with severe hypotonia on the other
- PMID: 36256512: Nineteen individuals from 10 individual families, age of onset ranged from a few months to 2 years. Reversible or irreversible neurological decompensation after a febrile illness was common in the cohort, and there were invariable white matter abnormalities on neuroimaging.

NB: ClinGen lumps both MIM# under mitochondrial disease MONDO:004497 (https://search.clinicalgenome.org/kb/genes/HGNC:16287)
Created: 6 Jan 2025, 5:57 a.m. | Last Modified: 6 Jan 2025, 5:57 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 1 (MIM# 605711); Spastic paraplegia 93 (MIM# 620938)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
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

17 Jan 2025, 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).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NFU1 were changed from Multiple mitochondrial dysfunctions syndrome 1, 605711 (3) to Multiple mitochondrial dysfunctions syndrome 1, MIM#605711

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NFU1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NFU1 was added gene: NFU1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)