Hereditary Spastic Paraplegia - 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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 93, autosomal recessive, MIM# 620938

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

Adding to the phenotypic continuum of this gene. 19 affected individuals from 10 independent families with biallelic missense variants associated with a spectrum of early‐onset pure to complex hereditary spastic paraplegia (HSP) phenotype with a longer survival (16/19) on one end and neurodevelopmental delay with severe hypotonia (3/19) on the other.
Sources: Literature
Created: 5 Jan 2023, 3:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 1 (MIM#605711)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1 (MIM#605711)
  • Spastic paraplegia 93, autosomal recessive, MIM# 620938
OMIM
608100
Clinvar variants
Variants in NFU1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Sep 2024, 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 (MIM#605711) to Multiple mitochondrial dysfunctions syndrome 1 (MIM#605711); Spastic paraplegia 93, autosomal recessive, MIM# 620938

5 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

5 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

5 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

5 Jan 2023, Gel status: 0

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

Lucy Spencer (Victorian Clinical Genetics Services)

gene: NFU1 was added gene: NFU1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 36256512 Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1 (MIM#605711) Review for gene: NFU1 was set to GREEN