White matter disorders and cerebral calcification - narrow panel
Gene: NFU1
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
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
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 listCreated: 15 Sep 2020, 11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: NFU1.
Source NHS GMS was added to NFU1. Source Expert Review Green was added to NFU1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: NFU1 were set to 22077971; 28470589; 29441221; 31516295; 32747156; 32669393
Tag Q2_21_rating tag was added to gene: NFU1.
Publications for gene: NFU1 were set to 21944046; 22077971; 32747156; 29441221
Gene: nfu1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NFU1 were changed from Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711
gene: NFU1 was added gene: NFU1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 21944046; 22077971; 32747156; 29441221 Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 Review for gene: NFU1 was set to GREEN gene: NFU1 was marked as current diagnostic