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Fetal anomalies v0.3845 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Fetal anomalies v0.3845 NFU1 Zornitza Stark Gene: nfu1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3845 NFU1 Zornitza Stark Phenotypes for gene: NFU1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711
Fetal anomalies v0.3844 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Fetal anomalies v0.3843 NFU1 Zornitza Stark changed review comment from: 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.; to: 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.

Clinical presentation is typically post-natal.
Fetal anomalies v0.3843 NFU1 Zornitza Stark edited their review of gene: NFU1: Changed rating: RED
Fetal anomalies v0.0 NFU1 Zornitza Stark gene: NFU1 was added
gene: NFU1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1