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Genetic Epilepsy v0.2098 PANK2 Elena Savva Classified gene: PANK2 as Red List (low evidence)
Genetic Epilepsy v0.2098 PANK2 Elena Savva Gene: pank2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2098 PANK2 Elena Savva Classified gene: PANK2 as Red List (low evidence)
Genetic Epilepsy v0.2098 PANK2 Elena Savva Gene: pank2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2097 PANK2 Elena Savva Classified gene: PANK2 as Red List (low evidence)
Genetic Epilepsy v0.2097 PANK2 Elena Savva Gene: pank2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2097 PANK2 Elena Savva Marked gene: PANK2 as ready
Genetic Epilepsy v0.2097 PANK2 Elena Savva Gene: pank2 has been removed from the panel.
Genetic Epilepsy v0.2096 PANK2 Lauren Rogers gene: PANK2 was added
gene: PANK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PANK2 were set to 27303611; 18462962
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1 MIM#234200
Review for gene: PANK2 was set to RED
Added comment: PMID: 27303611: A case report of 1x child with neurodegeneration with brain iron accumulation 1, with seizure onset age 4 with frequent falls, not gaining milestones, progressive muscle dystonia, neuro-regression, and multiple injury marks of different stages. They had 2nd degree consanguineous parents. They were compound heterozygous for p.(Leu385CysfsX13) and p.(Arg440Pro).

PMID: 18462962: A case report of 1x child neurodegeneration with brain iron accumulation 1, with refractory severe dystonia resulting in essentially complete loss of motor control, and an episode of a reported single generalized tonic clonic seizure. They were homozygous for a p.(Ala382Val)
Sources: Literature
Genetic Epilepsy v0.1862 ANK2 Elena Savva Phenotypes for gene: ANK2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related
Genetic Epilepsy v0.1861 ANK2 Elena Savva Phenotypes for gene: ANK2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related
Genetic Epilepsy v0.1860 ANK2 Elena Savva Phenotypes for gene: ANK2 were changed from Epilepsy, MONDO:0005027, Complex neurodevelopmental disorder, MONDO:0100038 to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related
Genetic Epilepsy v0.1859 ANK2 Elena Savva Marked gene: ANK2 as ready
Genetic Epilepsy v0.1859 ANK2 Elena Savva Gene: ank2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1859 ANK2 Elena Savva Classified gene: ANK2 as Green List (high evidence)
Genetic Epilepsy v0.1859 ANK2 Elena Savva Gene: ank2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1858 ANK2 Elena Savva Classified gene: ANK2 as Green List (high evidence)
Genetic Epilepsy v0.1858 ANK2 Elena Savva Gene: ank2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1851 ANK2 Karina Sandoval gene: ANK2 was added
gene: ANK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANK2 were set to PMID:37195288
Phenotypes for gene: ANK2 were set to Epilepsy, MONDO:0005027, Complex neurodevelopmental disorder, MONDO:0100038
Review for gene: ANK2 was set to GREEN
Added comment: Paper included 12 individuals with LoF variants. 11 were confirmed de novo. Paper found broad NND comprising of ID, ASD and early onset epilepsy, both mild and severed ID & epilepsy.
Variants included 4 nonsense, 3 fs, 3 canonical splice, and 2 partial gene dels.
Early childhood epilepsy was reported in 7 of 12 patients. 4 patients had neonatal onset epilepsy. 1 patient had bilateral tonic-clinic seizures at 3 years of age. Another patient had focal epilepsy with focal motor seizures.
Sources: Literature