White matter disorders and cerebral calcification - narrow panel

Gene: NFU1

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.

Panel Version: 2.9

Green List (high evidence)

Comment on list classification: Overall there are sufficient unrelated cases (>3) with white matter abnormalities to rate this gene as Green on this panel.

Created: 26 May 2021, 2:14 p.m. | Last Modified: 26 May 2021, 2:14 p.m.

Panel Version: 1.115

Cavitating leukoencephalopathy has been found to be common in individuals with NFU1 variants for whom brain imaging could be obtained though it is unclear if this is a universal finding.

Created: 26 May 2021, 2:13 p.m. | Last Modified: 26 May 2021, 2:13 p.m.

Panel Version: 1.114

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711; Leukoencephalopathy, HP:0002352

Publications

• 22077971
• 25918518
• 28470589
• 29441221
• 31516295
• 32747156
• 32669393

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.
Sources: Expert list

Created: 15 Sep 2020, 11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711

Publications

• 21944046
• 22077971
• 32747156
• 29441221

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