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Focal Epilepsy v0.14 ANK2 Elena Savva Classified gene: ANK2 as Green List (high evidence)
Focal Epilepsy v0.14 ANK2 Elena Savva Gene: ank2 has been classified as Green List (High Evidence).
Focal Epilepsy v0.13 ANK2 Elena Savva Marked gene: ANK2 as ready
Focal Epilepsy v0.13 ANK2 Elena Savva Gene: ank2 has been removed from the panel.
Focal Epilepsy v0.13 ANK2 Karina Sandoval gene: ANK2 was added
gene: ANK2 was added to Focal 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: PMID:37195288 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. 5 of the patients showed focal or multifocal epileptic discharges.
Sources: Literature
Focal Epilepsy v0.13 Zornitza Stark HPO terms changed from to Focal seizure, HP:0007359
List of related panels changed from to Focal seizure; HP:0007359
Focal Epilepsy v0.12 PIK3C2B Zornitza Stark Marked gene: PIK3C2B as ready
Focal Epilepsy v0.12 PIK3C2B Zornitza Stark Gene: pik3c2b has been classified as Amber List (Moderate Evidence).
Focal Epilepsy v0.12 PIK3C2B Zornitza Stark Classified gene: PIK3C2B as Amber List (moderate evidence)
Focal Epilepsy v0.12 PIK3C2B Zornitza Stark Gene: pik3c2b has been classified as Amber List (Moderate Evidence).
Focal Epilepsy v0.11 PIK3C2B Krithika Murali gene: PIK3C2B was added
gene: PIK3C2B was added to Focal Epilepsy. Sources: Literature
Mode of inheritance for gene: PIK3C2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3C2B were set to 35786744
Phenotypes for gene: PIK3C2B were set to familial partial epilepsy - MONDO#0017704
Review for gene: PIK3C2B was set to AMBER
Added comment: No OMIM gene disease association.

Gozzelino et al.(2022) Brain - report enrichment of ultra-rare PIK3C2B variants in focal epilepsy cohorts, including one variant shown to be de novo (G1294Q). Segregation data not provided for all cases. The p.G1345S variant was inherited from an affected father. The p.K584* variant was inherited from an unaffected father suggesting incomplete penetrance. Functional studies supported a LoF mechanism and mouse model studies suggestive of mTORC1 pathway hyperactivation.
Sources: Literature
Focal Epilepsy v0.11 Bryony Thompson Panel status changed from internal to public
Focal Epilepsy v0.10 RELN Bryony Thompson Marked gene: RELN as ready
Focal Epilepsy v0.10 RELN Bryony Thompson Gene: reln has been classified as Green List (High Evidence).
Focal Epilepsy v0.10 RELN Bryony Thompson Classified gene: RELN as Green List (high evidence)
Focal Epilepsy v0.10 RELN Bryony Thompson Gene: reln has been classified as Green List (High Evidence).
Focal Epilepsy v0.9 RELN Bryony Thompson Classified gene: RELN as Amber List (moderate evidence)
Focal Epilepsy v0.9 RELN Bryony Thompson Gene: reln has been classified as Amber List (Moderate Evidence).
Focal Epilepsy v0.8 RELN Bryony Thompson gene: RELN was added
gene: RELN was added to Focal Epilepsy. Sources: Literature
Mode of inheritance for gene: RELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RELN were set to 20301709; 28142128
Phenotypes for gene: RELN were set to Autosomal dominant epilepsy with auditory features (ADEAF)
Review for gene: RELN was set to GREEN
gene: RELN was marked as current diagnostic
Added comment: 7 families with ADEAF, a focal epilepsy syndrome.
Sources: Literature
Focal Epilepsy v0.7 SCN9A Bryony Thompson Marked gene: SCN9A as ready
Focal Epilepsy v0.7 SCN9A Bryony Thompson Gene: scn9a has been classified as Red List (Low Evidence).
Focal Epilepsy v0.7 SCN9A Bryony Thompson Classified gene: SCN9A as Red List (low evidence)
Focal Epilepsy v0.7 SCN9A Bryony Thompson Added comment: Comment on list classification: Comment on list classification: ClinGen Epilepsy GCEP curated gene-disease association with epilepsy: A novel publication provides evidence against pathogenicity for a previously reported variant providing the primary evidence for an association with epilepsy. Classification - 03/09/2021
Focal Epilepsy v0.7 SCN9A Bryony Thompson Gene: scn9a has been classified as Red List (Low Evidence).
Focal Epilepsy v0.6 MICAL1 Bryony Thompson Marked gene: MICAL1 as ready
Focal Epilepsy v0.6 MICAL1 Bryony Thompson Gene: mical1 has been classified as Amber List (Moderate Evidence).
Focal Epilepsy v0.6 MICAL1 Bryony Thompson Phenotypes for gene: MICAL1 were changed from to Autosomal dominant epilepsy with auditory features (ADEAF)
Focal Epilepsy v0.5 MICAL1 Bryony Thompson Publications for gene: MICAL1 were set to
Focal Epilepsy v0.4 MICAL1 Bryony Thompson Mode of inheritance for gene: MICAL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Focal Epilepsy v0.3 MICAL1 Bryony Thompson Classified gene: MICAL1 as Amber List (moderate evidence)
Focal Epilepsy v0.3 MICAL1 Bryony Thompson Gene: mical1 has been classified as Amber List (Moderate Evidence).
Focal Epilepsy v0.2 MICAL1 Bryony Thompson reviewed gene: MICAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29394500, 21638339; Phenotypes: Autosomal dominant epilepsy with auditory features (ADEAF); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Focal Epilepsy v0.2 Bryony Thompson Panel types changed to Royal Melbourne Hospital
Focal Epilepsy v0.0 NPRL2 Bryony Thompson gene: NPRL2 was added
gene: NPRL2 was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2, 617116
Focal Epilepsy v0.0 TSC2 Bryony Thompson gene: TSC2 was added
gene: TSC2 was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC2 were set to Tuberous sclerosis-2 613254; Focal cortical dysplasia, type II, somatic 607341
Focal Epilepsy v0.0 TSC1 Bryony Thompson gene: TSC1 was added
gene: TSC1 was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC1 were set to Focal cortical dysplasia, type II, somatic 607341; Tuberous sclerosis-1 191100
Focal Epilepsy v0.0 SCN9A Bryony Thompson gene: SCN9A was added
gene: SCN9A was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: SCN9A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN9A were set to Epilepsy, generalized, with febrile seizures plus, type 7 613863; {Dravet syndrome, modifier of} 607208
Focal Epilepsy v0.0 SCN1A Bryony Thompson gene: SCN1A was added
gene: SCN1A was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN1A were set to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Epilepsy, generalized, with febrile seizures plus, type 2 604403
Focal Epilepsy v0.0 PCDH19 Bryony Thompson gene: PCDH19 was added
gene: PCDH19 was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: PCDH19 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PCDH19 were set to Epileptic encephalopathy, early infantile, 9
Focal Epilepsy v0.0 NPRL3 Bryony Thompson gene: NPRL3 was added
gene: NPRL3 was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3, 617118
Focal Epilepsy v0.0 MICAL1 Bryony Thompson gene: MICAL1 was added
gene: MICAL1 was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: MICAL1 was set to
Focal Epilepsy v0.0 LGI1 Bryony Thompson gene: LGI1 was added
gene: LGI1 was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LGI1 were set to Epilepsy, familial temporal lobe, 1 600512
Focal Epilepsy v0.0 KCNT1 Bryony Thompson gene: KCNT1 was added
gene: KCNT1 was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNT1 were set to Epileptic encephalopathy, early infantile, 14; Epilepsy, nocturnal frontal lobe, 5
Focal Epilepsy v0.0 DEPDC5 Bryony Thompson gene: DEPDC5 was added
gene: DEPDC5 was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: DEPDC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DEPDC5 were set to Epilepsy, familial focal, with variable foci 1, OMIM:604364
Focal Epilepsy v0.0 CNTNAP2 Bryony Thompson gene: CNTNAP2 was added
gene: CNTNAP2 was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1
Focal Epilepsy v0.0 CHRNB2 Bryony Thompson gene: CHRNB2 was added
gene: CHRNB2 was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: CHRNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHRNB2 were set to Epilepsy, nocturnal frontal lobe, 3 605375
Focal Epilepsy v0.0 CHRNA4 Bryony Thompson gene: CHRNA4 was added
gene: CHRNA4 was added to Focal Epilepsy. Sources: Expert Review Green,GREP
Mode of inheritance for gene: CHRNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHRNA4 were set to Epilepsy, nocturnal frontal lobe, 1 600513
Focal Epilepsy v0.0 Bryony Thompson Added panel Focal Epilepsy