PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
21 actions
Genetic Epilepsy v2.0 RNH1 Gene migrated from ENSG00000023191 to ENSG00000023191 (gene set migration)
Genetic Epilepsy v1.255 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from Encephalopathy, acute, infection-induced, susceptibility to, 12 MIM#620461 to Encephalopathy, acute, infection-induced, susceptibility to, 12 MIM#620461
Genetic Epilepsy v1.255 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461 to Encephalopathy, acute, infection-induced, susceptibility to, 12 MIM#620461
Genetic Epilepsy v0.1880 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461
Genetic Epilepsy v0.1854 RNH1 Ain Roesley Classified gene: RNH1 as Green List (high evidence)
Genetic Epilepsy v0.1854 RNH1 Ain Roesley Gene: rnh1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1854 RNH1 Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417; 37191094
Genetic Epilepsy v0.1854 RNH1 Ain Roesley Classified gene: RNH1 as Green List (high evidence)
Genetic Epilepsy v0.1854 RNH1 Ain Roesley Gene: rnh1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1854 RNH1 Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417; 37191094
Genetic Epilepsy v0.1853 RNH1 Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417
Genetic Epilepsy v0.1853 RNH1 Ain Roesley Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related
Genetic Epilepsy v0.1851 RNH1 Dean Phelan reviewed gene: RNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37191094; Phenotypes: encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1839 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from RNH1-related disorder to Neurodevelopmental disorder, MONDO:0700092, RNH1-related
Genetic Epilepsy v0.1838 RNH1 Zornitza Stark reviewed gene: RNH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1838 RNH1 Seb Lunke Marked gene: RNH1 as ready
Genetic Epilepsy v0.1838 RNH1 Seb Lunke Gene: rnh1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1838 RNH1 Seb Lunke Classified gene: RNH1 as Red List (low evidence)
Genetic Epilepsy v0.1838 RNH1 Seb Lunke Gene: rnh1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1836 RNH1 Krithika Murali edited their review of gene: RNH1: Changed rating: RED
Genetic Epilepsy v0.1836 RNH1 Krithika Murali gene: RNH1 was added
gene: RNH1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNH1 were set to PMID: 36935417
Phenotypes for gene: RNH1 were set to RNH1-related disorder
Review for gene: RNH1 was set to AMBER
Added comment: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, seizures (focal and generalised) and regression in the context of infection. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis.
Sources: Literature