Hereditary Spastic Paraplegia - paediatric
Gene: NFU1EnsemblGeneIds (GRCh38): ENSG00000169599
EnsemblGeneIds (GRCh37): ENSG00000169599
OMIM: 608100, Gene2Phenotype
NFU1 is in 9 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 93, autosomal recessive, MIM# 620938
Lucy Spencer (Victorian Clinical Genetics Services)
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: LiteratureCreated: 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
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
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: nfu1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: nfu1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: nfu1 has been classified as Green List (High Evidence).
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