Prepair 1000+

Gene: NFU1

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

• 21944046
• 22077971
• 32747156
• 29441221
• 36256512

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