| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary arterial hypertension v3.3 | NFU1 | Sarah Leigh Tag Q2_21_rating was removed from gene: NFU1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v3.3 | NFU1 | Sarah Leigh reviewed gene: NFU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v2.15 | NFU1 | Arina Puzriakova Classified gene: NFU1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v2.15 | NFU1 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to rate this gene as Green at the next GMS panel update - sufficient number of unrelated cases (>3) supported by a NFU1 deficiency rat model which exhibited PAH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v2.15 | NFU1 | Arina Puzriakova Gene: nfu1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary arterial hypertension v2.14 | NFU1 |
Arina Puzriakova gene: NFU1 was added gene: NFU1 was added to Pulmonary arterial hypertension. Sources: Literature Q2_21_rating tags were added to gene: NFU1. Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 22077971; 25918518; 28470589; 31516295; 32669393; 31461310 Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711; Pulmonary hypertension in early infancy Review for gene: NFU1 was set to GREEN Added comment: Biallelic variants in this gene cause multiple mitochondrial dysfunctions syndrome, a severe neonatal onset disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, leukodystrophy, lactic acidosis, and early death. More than 50% of infant patients are found to display significant PAH, which can initially be an isolated and prominent finding (PMID: 22077971; 25918518; 28470589; 31516295; 32669393). Pulmonary samples from NFU1-deficient individuals with PAH showed obstructive vasculopathy with proximal and acinar arterial involvement (PMID: 22077971). Humanised rare model of NFU1 deficiency showed features of mitochondrial dysfunction comparable to those observed in patients and also developed PAH (PMID: 31461310) Sources: Literature |
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