Activity

Filter

Cancel
Date Panel Item Activity
1648 actions
Genetic Epilepsy v0.512 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM#610505
Genetic Epilepsy v0.511 TSFM Zornitza Stark Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.510 TSFM Zornitza Stark reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.510 TSEN2 Zornitza Stark Marked gene: TSEN2 as ready
Genetic Epilepsy v0.510 TSEN2 Zornitza Stark Gene: tsen2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.510 TSEN2 Zornitza Stark Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia, type 2F, MIM#617026
Genetic Epilepsy v0.509 TSEN2 Zornitza Stark Publications for gene: TSEN2 were set to
Genetic Epilepsy v0.508 TSEN2 Zornitza Stark Mode of inheritance for gene: TSEN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.507 TSEN2 Zornitza Stark reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562994, 18711368, 20952379; Phenotypes: Pontocerebellar hypoplasia, type 2F, MIM#617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.507 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Genetic Epilepsy v0.507 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Genetic Epilepsy v0.507 TRRAP Zornitza Stark Phenotypes for gene: TRRAP were changed from to Developmental delay with or without dysmorphic facies and autism, MIM#618454
Genetic Epilepsy v0.506 TRRAP Zornitza Stark Publications for gene: TRRAP were set to
Genetic Epilepsy v0.505 TRRAP Zornitza Stark Mode of inheritance for gene: TRRAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.504 TRRAP Zornitza Stark reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30827496, 28628100; Phenotypes: Developmental delay with or without dysmorphic facies and autism, MIM#618454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Marked gene: TRPM6 as ready
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Gene: trpm6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Classified gene: TRPM6 as Green List (high evidence)
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Gene: trpm6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.503 TRPM6 Zornitza Stark gene: TRPM6 was added
gene: TRPM6 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, MIM#602014
Review for gene: TRPM6 was set to GREEN
gene: TRPM6 was marked as current diagnostic
Added comment: Can present with seizures.
Sources: Expert list
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Genetic Epilepsy v0.501 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Genetic Epilepsy v0.501 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to
Genetic Epilepsy v0.500 TRAPPC12 Zornitza Stark Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.499 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Amber List (moderate evidence)
Genetic Epilepsy v0.499 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.498 TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.498 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Genetic Epilepsy v0.498 TRAF7 Zornitza Stark Gene: traf7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.498 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from Cardiac, facial, and digital anomalies with developmental delay, MIM#618164 to Cardiac, facial, and digital anomalies with developmental delay, MIM#618164
Genetic Epilepsy v0.497 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from to Cardiac, facial, and digital anomalies with developmental delay, MIM#618164
Genetic Epilepsy v0.496 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to
Genetic Epilepsy v0.495 TRAF7 Zornitza Stark Mode of inheritance for gene: TRAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.494 TRAF7 Zornitza Stark Classified gene: TRAF7 as Amber List (moderate evidence)
Genetic Epilepsy v0.494 TRAF7 Zornitza Stark Gene: traf7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.493 TRAF7 Zornitza Stark reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29961569, 27479843, 28135719, 25363760, 25961944; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM#618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Marked gene: TNK2 as ready
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Gene: tnk2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Phenotypes for gene: TNK2 were changed from to severe infantile onset epilepsy
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Publications for gene: TNK2 were set to
Genetic Epilepsy v0.492 TNK2 Zornitza Stark Mode of inheritance for gene: TNK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.491 TNK2 Zornitza Stark reviewed gene: TNK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27977884, 23686771; Phenotypes: severe infantile onset epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.491 TMEM70 Zornitza Stark Marked gene: TMEM70 as ready
Genetic Epilepsy v0.491 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.491 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052
Genetic Epilepsy v0.490 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052
Genetic Epilepsy v0.490 TMEM70 Zornitza Stark Publications for gene: TMEM70 were set to
Genetic Epilepsy v0.489 TMEM70 Zornitza Stark Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.488 TMEM70 Zornitza Stark Classified gene: TMEM70 as Amber List (moderate evidence)
Genetic Epilepsy v0.488 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.487 TMEM70 Zornitza Stark reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: None; Publications: 18953340, 21147908; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Added comment: Comment when marking as ready: At least 4 families reported, all affected individuals had seizures.
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM#617698
Genetic Epilepsy v0.486 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Genetic Epilepsy v0.485 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.484 TIMM50 Zornitza Stark reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM#617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Classified gene: TDP2 as Green List (high evidence)
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.483 TDP2 Zornitza Stark gene: TDP2 was added
gene: TDP2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 24658003; 30109272; 31410782
Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23, 616949
Review for gene: TDP2 was set to GREEN
gene: TDP2 was marked as current diagnostic
Added comment: At least 6 individuals from 4 unrelated families reported; ID/seizures/ataxia are a consistent features.
Sources: Expert list
Genetic Epilepsy v0.482 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Genetic Epilepsy v0.482 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.482 TBC1D20 Zornitza Stark Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM#615663
Genetic Epilepsy v0.481 TBC1D20 Zornitza Stark Publications for gene: TBC1D20 were set to 24239381
Genetic Epilepsy v0.480 TBC1D20 Zornitza Stark Publications for gene: TBC1D20 were set to
Genetic Epilepsy v0.480 TBC1D20 Zornitza Stark Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.479 TBC1D20 Zornitza Stark Classified gene: TBC1D20 as Amber List (moderate evidence)
Genetic Epilepsy v0.479 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.478 TBC1D20 Zornitza Stark reviewed gene: TBC1D20: Rating: AMBER; Mode of pathogenicity: None; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, MIM#615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Classified gene: TANGO2 as Green List (high evidence)
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.477 TANGO2 Zornitza Stark gene: TANGO2 was added
gene: TANGO2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 26805782; 30245509
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises recurrent with rhabdomyolysis cardiac arrhythmias and neurodegeneration, 616878
Review for gene: TANGO2 was set to GREEN
gene: TANGO2 was marked as current diagnostic
Added comment: Seizures present in around 80% of reported individuals.
Sources: Expert list
Genetic Epilepsy v0.476 SUCLG1 Zornitza Stark Marked gene: SUCLG1 as ready
Genetic Epilepsy v0.476 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.476 SUCLG1 Zornitza Stark Publications for gene: SUCLG1 were set to 26475597; 27484306
Genetic Epilepsy v0.475 SUCLG1 Zornitza Stark Publications for gene: SUCLG1 were set to
Genetic Epilepsy v0.475 SUCLG1 Zornitza Stark Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400
Genetic Epilepsy v0.474 SUCLG1 Zornitza Stark Mode of inheritance for gene: SUCLG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.474 SUCLG1 Zornitza Stark Classified gene: SUCLG1 as Amber List (moderate evidence)
Genetic Epilepsy v0.474 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.473 SUCLG1 Zornitza Stark reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26475597, 27484306; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.473 ST3GAL3 Zornitza Stark reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 23252400, 31584066; Phenotypes: Epileptic encephalopathy, early infantile, 15 , MIM#615006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Classified gene: SPATA5 as Green List (high evidence)
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.472 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 27246907; 29343804; 26299366
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577
Review for gene: SPATA5 was set to GREEN
gene: SPATA5 was marked as current diagnostic
Added comment: More than 15 families have been reported in multiple publications. Clinical features include intellectual disability, epilepsy, microcephaly and hearing loss. May present as epileptic encephalopathy/epilepsy in the first year of life prior to onset of obvious developmental delay.
Sources: Expert list
Genetic Epilepsy v0.471 SMS Zornitza Stark Marked gene: SMS as ready
Genetic Epilepsy v0.471 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Genetic Epilepsy v0.471 SMS Zornitza Stark Classified gene: SMS as Green List (high evidence)
Genetic Epilepsy v0.471 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Genetic Epilepsy v0.470 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SMS were set to 30237987
Phenotypes for gene: SMS were set to Mental retardation X-linked Snyder-Robinson type, 309583
Review for gene: SMS was set to GREEN
gene: SMS was marked as current diagnostic
Added comment: Seizures reported in some affected individuals.
Sources: Expert list
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Marked gene: SMARCA2 as ready
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Classified gene: SMARCA2 as Green List (high evidence)
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.468 SMARCA2 Zornitza Stark gene: SMARCA2 was added
gene: SMARCA2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA2 were set to 22366787; 22426308; 27665729
Phenotypes for gene: SMARCA2 were set to Nicolaides-Baraitser syndrome, MIM# 601358
Review for gene: SMARCA2 was set to GREEN
gene: SMARCA2 was marked as current diagnostic
Added comment: Seizures reported in about half of affected individuals.
Sources: Expert list
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.466 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Review for gene: SLC1A4 was set to GREEN
gene: SLC1A4 was marked as current diagnostic
Added comment: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants
Sources: Expert list
Genetic Epilepsy v0.465 SIX3 Zornitza Stark Marked gene: SIX3 as ready
Genetic Epilepsy v0.465 SIX3 Zornitza Stark Gene: six3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.465 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, MIM#157170
Genetic Epilepsy v0.464 SIX3 Zornitza Stark Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.463 SIX3 Zornitza Stark Classified gene: SIX3 as Amber List (moderate evidence)
Genetic Epilepsy v0.463 SIX3 Zornitza Stark Gene: six3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.462 SIX3 Zornitza Stark reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 2, MIM#157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.462 SHH Zornitza Stark Marked gene: SHH as ready
Genetic Epilepsy v0.462 SHH Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.462 SHH Zornitza Stark Phenotypes for gene: SHH were changed from to Hypothalamic hamartoma
Genetic Epilepsy v0.461 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to Other
Genetic Epilepsy v0.460 SHH Zornitza Stark Tag somatic tag was added to gene: SHH.
Genetic Epilepsy v0.460 SHH Zornitza Stark reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothalamic hamartoma; Mode of inheritance: Other
Genetic Epilepsy v0.460 SGSH Zornitza Stark Marked gene: SGSH as ready
Genetic Epilepsy v0.460 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.460 SGSH Zornitza Stark Classified gene: SGSH as Green List (high evidence)
Genetic Epilepsy v0.460 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.459 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSH were set to 21061399; 30593151
Phenotypes for gene: SGSH were set to Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900
Review for gene: SGSH was set to GREEN
gene: SGSH was marked as current diagnostic
Added comment: Seizures reported in over half of affected individuals.
Sources: Expert list
Genetic Epilepsy v0.458 SETD1B Zornitza Stark Marked gene: SETD1B as ready
Genetic Epilepsy v0.458 SETD1B Zornitza Stark Gene: setd1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.458 SETD1B Zornitza Stark Publications for gene: SETD1B were set to
Genetic Epilepsy v0.457 SETD1B Zornitza Stark Phenotypes for gene: SETD1B were changed from to Epilepsy with myoclonic absences; intellectual disability
Genetic Epilepsy v0.456 SETD1B Zornitza Stark Mode of inheritance for gene: SETD1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.455 SETD1B Zornitza Stark reviewed gene: SETD1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29322246, 31440728, 31685013; Phenotypes: Epilepsy with myoclonic absences, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.455 SDHA Zornitza Stark Marked gene: SDHA as ready
Genetic Epilepsy v0.455 SDHA Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.455 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from Leigh syndrome, MIM#256000 to Leigh syndrome, MIM#256000
Genetic Epilepsy v0.454 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Leigh syndrome, MIM#256000
Genetic Epilepsy v0.454 SDHA Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.453 SDHA Zornitza Stark Classified gene: SDHA as Amber List (moderate evidence)
Genetic Epilepsy v0.453 SDHA Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.452 SDHA Zornitza Stark reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.452 RUSC2 Zornitza Stark reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27612186; Phenotypes: Mental retardation, autosomal recessive 61, MIM#617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.452 RALA Zornitza Stark Marked gene: RALA as ready
Genetic Epilepsy v0.452 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Genetic Epilepsy v0.452 RALA Zornitza Stark Classified gene: RALA as Green List (high evidence)
Genetic Epilepsy v0.452 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Genetic Epilepsy v0.451 RALA Zornitza Stark gene: RALA was added
gene: RALA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RALA were set to 30500825
Phenotypes for gene: RALA were set to Intellectual disability; Seizures
Review for gene: RALA was set to GREEN
Added comment: 11 individuals from 10 unrelated families reported with this neurodevelopmental syndrome, half had seizures.
Sources: Expert list
Genetic Epilepsy v0.450 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Genetic Epilepsy v0.450 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.450 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225 to Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225
Genetic Epilepsy v0.449 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225
Genetic Epilepsy v0.448 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.447 RAB3GAP2 Zornitza Stark Classified gene: RAB3GAP2 as Amber List (moderate evidence)
Genetic Epilepsy v0.447 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.446 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Martsolf syndrome, MIM#212720, Warburg micro syndrome 2, MIM#614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.446 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Genetic Epilepsy v0.446 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.446 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM#600118
Genetic Epilepsy v0.445 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Genetic Epilepsy v0.445 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.444 RAB3GAP1 Zornitza Stark Classified gene: RAB3GAP1 as Amber List (moderate evidence)
Genetic Epilepsy v0.444 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.443 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20512159; Phenotypes: Warburg micro syndrome 1, MIM#600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.443 QDPR Zornitza Stark Marked gene: QDPR as ready
Genetic Epilepsy v0.443 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.443 QDPR Zornitza Stark Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, MIM#261630
Genetic Epilepsy v0.442 QDPR Zornitza Stark Publications for gene: QDPR were set to
Genetic Epilepsy v0.441 QDPR Zornitza Stark Mode of inheritance for gene: QDPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.440 QDPR Zornitza Stark reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 26006720; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM#261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.440 PTF1A Zornitza Stark Phenotypes for gene: PTF1A were changed from Pancreatic and cerebellar agenesis, MIM#609069 to Pancreatic and cerebellar agenesis, MIM#609069
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Gene: ptf1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Phenotypes for gene: PTF1A were changed from to Pancreatic and cerebellar agenesis, MIM#609069
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Publications for gene: PTF1A were set to
Genetic Epilepsy v0.438 PTF1A Zornitza Stark Mode of inheritance for gene: PTF1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.437 PTF1A Zornitza Stark Classified gene: PTF1A as Amber List (moderate evidence)
Genetic Epilepsy v0.437 PTF1A Zornitza Stark Gene: ptf1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.436 PTF1A Zornitza Stark reviewed gene: PTF1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 21749365, 15543146, 19650412; Phenotypes: Pancreatic and cerebellar agenesis, MIM#609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.436 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM#158350 to Cowden syndrome 1, MIM#158350
Genetic Epilepsy v0.435 PTEN Zornitza Stark Marked gene: PTEN as ready
Genetic Epilepsy v0.435 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Genetic Epilepsy v0.435 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM#158350
Genetic Epilepsy v0.435 PTEN Zornitza Stark Publications for gene: PTEN were set to 9832032; 29033429; 29444762
Genetic Epilepsy v0.434 PTEN Zornitza Stark Publications for gene: PTEN were set to
Genetic Epilepsy v0.434 PTEN Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.433 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 9832032, 29033429, 29444762; Phenotypes: Cowden syndrome 1, MIM#158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.433 PSPH Zornitza Stark Marked gene: PSPH as ready
Genetic Epilepsy v0.433 PSPH Zornitza Stark Gene: psph has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.433 PSPH Zornitza Stark Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency, MIM#614023
Genetic Epilepsy v0.432 PSPH Zornitza Stark Publications for gene: PSPH were set to
Genetic Epilepsy v0.431 PSPH Zornitza Stark Mode of inheritance for gene: PSPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.430 PSPH Zornitza Stark Classified gene: PSPH as Amber List (moderate evidence)
Genetic Epilepsy v0.430 PSPH Zornitza Stark Gene: psph has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.429 PSPH Zornitza Stark reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 25080166, 26589312, 14673469; Phenotypes: Phosphoserine phosphatase deficiency, MIM#614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.429 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Genetic Epilepsy v0.429 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.429 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from Phosphoserine aminotransferase deficiency, MIM#610992 to Phosphoserine aminotransferase deficiency, MIM#610992
Genetic Epilepsy v0.428 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from to Phosphoserine aminotransferase deficiency, MIM#610992
Genetic Epilepsy v0.427 PSAT1 Zornitza Stark Publications for gene: PSAT1 were set to
Genetic Epilepsy v0.426 PSAT1 Zornitza Stark Mode of inheritance for gene: PSAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.425 PSAT1 Zornitza Stark Classified gene: PSAT1 as Amber List (moderate evidence)
Genetic Epilepsy v0.425 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.424 PSAT1 Zornitza Stark reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17436247, 26610677, 26960553; Phenotypes: Phosphoserine aminotransferase deficiency, MIM#610992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Marked gene: PPP2CA as ready
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Classified gene: PPP2CA as Green List (high evidence)
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.423 PPP2CA Zornitza Stark gene: PPP2CA was added
gene: PPP2CA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities, MIM#618354
Review for gene: PPP2CA was set to GREEN
gene: PPP2CA was marked as current diagnostic
Added comment: 16 individuals with heterozygous pathogenic PPP2CA variants. Frequent features included feeding difficulties, hypotonia, developmental delay (16/16) with intellectual disability. Seizures are seen in 9 of 16 individuals.
Sources: Expert list
Genetic Epilepsy v0.422 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Genetic Epilepsy v0.422 POMT2 Zornitza Stark Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.422 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150
Genetic Epilepsy v0.421 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150
Genetic Epilepsy v0.421 POMT2 Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.420 POMT2 Zornitza Stark Classified gene: POMT2 as Amber List (moderate evidence)
Genetic Epilepsy v0.420 POMT2 Zornitza Stark Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.419 POMT2 Zornitza Stark reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501 to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501
Genetic Epilepsy v0.418 PIK3CA Zornitza Stark Mode of pathogenicity for gene: PIK3CA was changed from to Other
Genetic Epilepsy v0.417 PIK3CA Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.416 PIK3CA Zornitza Stark Tag somatic tag was added to gene: PIK3CA.
Genetic Epilepsy v0.416 PIK3CA Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic Epilepsy v0.416 PDSS2 Zornitza Stark Marked gene: PDSS2 as ready
Genetic Epilepsy v0.416 PDSS2 Zornitza Stark Gene: pdss2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.416 PDSS2 Zornitza Stark Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3, MIM#614652
Genetic Epilepsy v0.415 PDSS2 Zornitza Stark Publications for gene: PDSS2 were set to
Genetic Epilepsy v0.414 PDSS2 Zornitza Stark Classified gene: PDSS2 as Amber List (moderate evidence)
Genetic Epilepsy v0.414 PDSS2 Zornitza Stark Gene: pdss2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.413 PDSS2 Zornitza Stark reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17186472, 29032433; Phenotypes: Coenzyme Q10 deficiency, primary, 3, MIM#614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Marked gene: PAK1 as ready
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Classified gene: PAK1 as Green List (high evidence)
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.412 PAK1 Zornitza Stark gene: PAK1 was added
gene: PAK1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 30290153; 31504246
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)
Review for gene: PAK1 was set to GREEN
gene: PAK1 was marked as current diagnostic
Added comment: Six unrelated individuals with de novo variants int his gene reported.
Sources: Expert list
Genetic Epilepsy v0.411 OTX2 Zornitza Stark Marked gene: OTX2 as ready
Genetic Epilepsy v0.411 OTX2 Zornitza Stark Gene: otx2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.411 OTX2 Zornitza Stark Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5 610125
Genetic Epilepsy v0.410 OTX2 Zornitza Stark Publications for gene: OTX2 were set to
Genetic Epilepsy v0.409 OTX2 Zornitza Stark Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.408 OTX2 Zornitza Stark Classified gene: OTX2 as Amber List (moderate evidence)
Genetic Epilepsy v0.408 OTX2 Zornitza Stark Gene: otx2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.407 OTX2 Zornitza Stark reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19965921, 15846561; Phenotypes: Microphthalmia, syndromic 5 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.407 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Genetic Epilepsy v0.407 NUBPL Zornitza Stark Gene: nubpl has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.407 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.406 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Genetic Epilepsy v0.405 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.404 NUBPL Zornitza Stark Classified gene: NUBPL as Amber List (moderate evidence)
Genetic Epilepsy v0.404 NUBPL Zornitza Stark Gene: nubpl has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.403 NUBPL Zornitza Stark reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: None; Publications: 23553477, 20818383; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.403 NEDD4L Zornitza Stark Marked gene: NEDD4L as ready
Genetic Epilepsy v0.403 NEDD4L Zornitza Stark Gene: nedd4l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.403 NEDD4L Zornitza Stark Phenotypes for gene: NEDD4L were changed from to Periventricular nodular heterotopia 7, MIM#617201
Genetic Epilepsy v0.402 NEDD4L Zornitza Stark Publications for gene: NEDD4L were set to
Genetic Epilepsy v0.401 NEDD4L Zornitza Stark Mode of inheritance for gene: NEDD4L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.400 NEDD4L Zornitza Stark reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28515470, 23934111, 28212375, 27694961; Phenotypes: Periventricular nodular heterotopia 7, MIM#617201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.400 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Genetic Epilepsy v0.400 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.400 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from to Leigh syndrome, MIM#256000
Genetic Epilepsy v0.399 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Genetic Epilepsy v0.398 NDUFS7 Zornitza Stark Mode of inheritance for gene: NDUFS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.397 NDUFS7 Zornitza Stark Classified gene: NDUFS7 as Amber List (moderate evidence)
Genetic Epilepsy v0.397 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.396 NDUFS7 Zornitza Stark reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: None; Publications: 17604671, 17275378, 15269216; Phenotypes: Leigh syndrome, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.396 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Genetic Epilepsy v0.396 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.396 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.395 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Genetic Epilepsy v0.394 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.393 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Amber List (moderate evidence)
Genetic Epilepsy v0.393 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.392 NDUFS6 Zornitza Stark reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 15372108, 19259137, 27290639; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.392 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Genetic Epilepsy v0.392 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.392 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.391 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.390 NDUFS1 Zornitza Stark Classified gene: NDUFS1 as Amber List (moderate evidence)
Genetic Epilepsy v0.390 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.389 NDUFS1 Zornitza Stark reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.389 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Genetic Epilepsy v0.389 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.389 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.388 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Genetic Epilepsy v0.387 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.386 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Amber List (moderate evidence)
Genetic Epilepsy v0.386 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.385 NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 28853723, 19463981; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.385 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Genetic Epilepsy v0.385 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.385 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.384 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.384 NDUFAF3 Zornitza Stark Classified gene: NDUFAF3 as Amber List (moderate evidence)
Genetic Epilepsy v0.384 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.383 NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.383 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, MIM#252010 to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Genetic Epilepsy v0.381 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.380 NDUFS2 Zornitza Stark Classified gene: NDUFS2 as Amber List (moderate evidence)
Genetic Epilepsy v0.380 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.379 NDUFS2 Zornitza Stark reviewed gene: NDUFS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23266820, 22036843, 20819849; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.379 NDUFA6 Zornitza Stark Marked gene: NDUFA6 as ready
Genetic Epilepsy v0.379 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.379 NDUFA6 Zornitza Stark Phenotypes for gene: NDUFA6 were changed from Mitochondrial complex I deficiency, nuclear type 33, MIM#618253 to Mitochondrial complex I deficiency, nuclear type 33, MIM#618253
Genetic Epilepsy v0.378 NDUFA6 Zornitza Stark Phenotypes for gene: NDUFA6 were changed from to Mitochondrial complex I deficiency, nuclear type 33, MIM#618253
Genetic Epilepsy v0.377 NDUFA6 Zornitza Stark Publications for gene: NDUFA6 were set to
Genetic Epilepsy v0.376 NDUFA6 Zornitza Stark Mode of inheritance for gene: NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.375 NDUFA6 Zornitza Stark Classified gene: NDUFA6 as Red List (low evidence)
Genetic Epilepsy v0.375 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.374 NDUFA6 Zornitza Stark reviewed gene: NDUFA6: Rating: RED; Mode of pathogenicity: None; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, MIM#618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.374 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Genetic Epilepsy v0.372 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.371 NDUFA2 Zornitza Stark Classified gene: NDUFA2 as Amber List (moderate evidence)
Genetic Epilepsy v0.371 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.370 NDUFA2 Zornitza Stark reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28857146, 18513682; Phenotypes: Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Marked gene: NDUFA11 as ready
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.369 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Genetic Epilepsy v0.369 NDP Zornitza Stark Marked gene: NDP as ready
Genetic Epilepsy v0.369 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.369 NDP Zornitza Stark Phenotypes for gene: NDP were changed from Norrie disease, MIM#310600 to Norrie disease, MIM#310600
Genetic Epilepsy v0.369 NDP Zornitza Stark Phenotypes for gene: NDP were changed from to Norrie disease, MIM#310600
Genetic Epilepsy v0.369 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to
Genetic Epilepsy v0.368 NDP Zornitza Stark Publications for gene: NDP were set to
Genetic Epilepsy v0.368 NDUFA11 Zornitza Stark Classified gene: NDUFA11 as Red List (low evidence)
Genetic Epilepsy v0.368 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.367 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.367 NDP Zornitza Stark Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.366 NDP Zornitza Stark Classified gene: NDP as Red List (low evidence)
Genetic Epilepsy v0.366 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.365 NDP Zornitza Stark reviewed gene: NDP: Rating: RED; Mode of pathogenicity: None; Publications: 17334993; Phenotypes: Norrie disease, MIM#310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.365 NBEA Zornitza Stark Marked gene: NBEA as ready
Genetic Epilepsy v0.365 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Genetic Epilepsy v0.365 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Genetic Epilepsy v0.365 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Genetic Epilepsy v0.364 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder, more than half had epilepsy.
Sources: Expert list
Genetic Epilepsy v0.363 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Genetic Epilepsy v0.363 NAA10 Zornitza Stark Gene: naa10 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.363 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1, MIM# 309800
Genetic Epilepsy v0.362 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Genetic Epilepsy v0.361 NAA10 Zornitza Stark Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.360 NAA10 Zornitza Stark Classified gene: NAA10 as Red List (low evidence)
Genetic Epilepsy v0.360 NAA10 Zornitza Stark Gene: naa10 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.359 NAA10 Zornitza Stark reviewed gene: NAA10: Rating: RED; Mode of pathogenicity: None; Publications: 11426460; Phenotypes: Microphthalmia, syndromic 1 309800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.359 MTR Zornitza Stark Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940 to Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940
Genetic Epilepsy v0.358 MTR Zornitza Stark Marked gene: MTR as ready
Genetic Epilepsy v0.358 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.358 MTR Zornitza Stark Phenotypes for gene: MTR were changed from to Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940
Genetic Epilepsy v0.358 MTR Zornitza Stark Publications for gene: MTR were set to
Genetic Epilepsy v0.357 MTR Zornitza Stark Mode of inheritance for gene: MTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.356 MTR Zornitza Stark Deleted their comment
Genetic Epilepsy v0.356 MTR Zornitza Stark commented on gene: MTR: Seizures are part of the phenotype of this metabolic disorder.
Genetic Epilepsy v0.356 MTR Zornitza Stark reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25526710, 9683607, 28666289; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Classified gene: MFSD8 as Green List (high evidence)
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.355 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFSD8 were set to 30249282; 30144815; 30301600; 28586915
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951
Review for gene: MFSD8 was set to GREEN
gene: MFSD8 was marked as current diagnostic
Added comment: Seizures are a common feature of this neurodegenerative disorder.
Sources: Expert list
Genetic Epilepsy v0.354 MANBA Zornitza Stark Marked gene: MANBA as ready
Genetic Epilepsy v0.354 MANBA Zornitza Stark Gene: manba has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.354 MANBA Zornitza Stark Publications for gene: MANBA were set to 12468273; 22369051
Genetic Epilepsy v0.354 MANBA Zornitza Stark Publications for gene: MANBA were set to 12468273; 22369051
Genetic Epilepsy v0.353 MANBA Zornitza Stark Publications for gene: MANBA were set to
Genetic Epilepsy v0.352 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM#248510
Genetic Epilepsy v0.351 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.350 MANBA Zornitza Stark Classified gene: MANBA as Amber List (moderate evidence)
Genetic Epilepsy v0.350 MANBA Zornitza Stark Gene: manba has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.349 MANBA Zornitza Stark reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: None; Publications: 12468273, 22369051; Phenotypes: Mannosidosis, beta, MIM#248510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.348 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene, seizures a consistent feature.
Sources: Expert list
Genetic Epilepsy v0.347 LYST Zornitza Stark Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome, MIM#214500 to Chediak-Higashi syndrome, MIM#214500
Genetic Epilepsy v0.346 LYST Zornitza Stark Marked gene: LYST as ready
Genetic Epilepsy v0.346 LYST Zornitza Stark Gene: lyst has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.346 LYST Zornitza Stark Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM#214500
Genetic Epilepsy v0.346 LYST Zornitza Stark Publications for gene: LYST were set to
Genetic Epilepsy v0.345 LYST Zornitza Stark Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.344 LYST Zornitza Stark Classified gene: LYST as Amber List (moderate evidence)
Genetic Epilepsy v0.344 LYST Zornitza Stark Gene: lyst has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.343 LYST Zornitza Stark reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: 10450360; Phenotypes: Chediak-Higashi syndrome, MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.343 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Genetic Epilepsy v0.343 LNPK Zornitza Stark Marked gene: LNPK as ready
Genetic Epilepsy v0.343 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.343 LNPK Zornitza Stark Publications for gene: LNPK were set to 30032983
Genetic Epilepsy v0.342 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Genetic Epilepsy v0.342 LNPK Zornitza Stark Publications for gene: LNPK were set to
Genetic Epilepsy v0.342 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.341 LNPK Zornitza Stark Classified gene: LNPK as Amber List (moderate evidence)
Genetic Epilepsy v0.341 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.340 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.339 LNPK Zornitza Stark reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 30032983; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.339 Zornitza Stark removed gene:LNP1 from the panel
Genetic Epilepsy v0.338 LIPT2 Zornitza Stark Marked gene: LIPT2 as ready
Genetic Epilepsy v0.338 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.338 LIPT2 Zornitza Stark Phenotypes for gene: LIPT2 were changed from Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Genetic Epilepsy v0.337 LIPT2 Zornitza Stark Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Genetic Epilepsy v0.337 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Genetic Epilepsy v0.337 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.337 LIPT2 Zornitza Stark Publications for gene: LIPT2 were set to
Genetic Epilepsy v0.336 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840
Genetic Epilepsy v0.336 LIPT2 Zornitza Stark Mode of inheritance for gene: LIPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.335 LIPT2 Zornitza Stark reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28757203; Phenotypes: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.335 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.334 LARGE1 Zornitza Stark Classified gene: LARGE1 as Amber List (moderate evidence)
Genetic Epilepsy v0.334 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.333 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.333 KPTN Zornitza Stark Marked gene: KPTN as ready
Genetic Epilepsy v0.333 KPTN Zornitza Stark Gene: kptn has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.333 KPTN Zornitza Stark Phenotypes for gene: KPTN were changed from to Mental retardation, autosomal recessive 4, MIM#1615637
Genetic Epilepsy v0.332 KPTN Zornitza Stark Publications for gene: KPTN were set to
Genetic Epilepsy v0.331 KPTN Zornitza Stark Mode of inheritance for gene: KPTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.330 KPTN Zornitza Stark Classified gene: KPTN as Amber List (moderate evidence)
Genetic Epilepsy v0.330 KPTN Zornitza Stark Gene: kptn has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.329 KPTN Zornitza Stark reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 25847626, 24239382; Phenotypes: Mental retardation, autosomal recessive 4, MIM#1615637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Marked gene: KMT2E as ready
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Classified gene: KMT2E as Green List (high evidence)
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Genetic Epilepsy v0.328 KMT2E Zornitza Stark gene: KMT2E was added
gene: KMT2E was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2E were set to 31079897
Phenotypes for gene: KMT2E were set to Intellectual disability; Autism; Seizures
Review for gene: KMT2E was set to GREEN
gene: KMT2E was marked as current diagnostic
Added comment: Thirty individuals reported with this neurodevelopmental syndrome, substantial proportion had seizures.
Sources: Expert list
Genetic Epilepsy v0.327 KIF1BP Zornitza Stark Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome, MIM# 609460 to Goldberg-Shprintzen megacolon syndrome, MIM# 609460
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Marked gene: KIF1BP as ready
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Publications for gene: KIF1BP were set to 28277559
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Phenotypes for gene: KIF1BP were changed from to Goldberg-Shprintzen megacolon syndrome, MIM# 609460
Genetic Epilepsy v0.325 KIF1BP Zornitza Stark Publications for gene: KIF1BP were set to
Genetic Epilepsy v0.325 KIF1BP Zornitza Stark Mode of inheritance for gene: KIF1BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.324 KIF1BP Zornitza Stark Classified gene: KIF1BP as Amber List (moderate evidence)
Genetic Epilepsy v0.324 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.323 KIF1BP Zornitza Stark reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: None; Publications: 28277559; Phenotypes: Goldberg-Shprintzen megacolon syndrome, MIM# 609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.323 ISPD Zornitza Stark Marked gene: ISPD as ready
Genetic Epilepsy v0.323 ISPD Zornitza Stark Gene: ispd has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.323 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643
Genetic Epilepsy v0.322 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643
Genetic Epilepsy v0.321 ISPD Zornitza Stark Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.320 ISPD Zornitza Stark Classified gene: ISPD as Amber List (moderate evidence)
Genetic Epilepsy v0.320 ISPD Zornitza Stark Gene: ispd has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.319 ISPD Zornitza Stark reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.319 HPRT1 Zornitza Stark Marked gene: HPRT1 as ready
Genetic Epilepsy v0.319 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.319 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome to Lesch-Nyhan syndrome
Genetic Epilepsy v0.318 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from to Lesch-Nyhan syndrome
Genetic Epilepsy v0.317 HPRT1 Zornitza Stark Publications for gene: HPRT1 were set to
Genetic Epilepsy v0.316 HPRT1 Zornitza Stark Mode of inheritance for gene: HPRT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.315 HPRT1 Zornitza Stark Classified gene: HPRT1 as Amber List (moderate evidence)
Genetic Epilepsy v0.315 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.314 HPRT1 Zornitza Stark reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27858372; Phenotypes: Lesch-Nyhan syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.314 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Marked gene: HOXA1 as ready
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Mode of inheritance for gene: HOXA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.312 HOXA1 Zornitza Stark Classified gene: HOXA1 as Amber List (moderate evidence)
Genetic Epilepsy v0.312 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.311 HOXA1 Zornitza Stark reviewed gene: HOXA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Marked gene: HNRNPR as ready
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Classified gene: HNRNPR as Green List (high evidence)
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.310 HNRNPR Zornitza Stark gene: HNRNPR was added
gene: HNRNPR was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 26795593; 31079900
Phenotypes for gene: HNRNPR were set to Intellectual disability; seizures
Review for gene: HNRNPR was set to GREEN
gene: HNRNPR was marked as current diagnostic
Added comment: Five unrelated individuals reported with de novo variants and a neurodevelopmental disorder.
Sources: Expert list
Genetic Epilepsy v0.309 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from to Genetic epilepsy with febrile seizures plus; Other seizure disorders
Genetic Epilepsy v0.308 HCN2 Zornitza Stark Publications for gene: HCN2 were set to
Genetic Epilepsy v0.308 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from Linear skin defects with multiple congenital anomalies 1, 309801 to Linear skin defects with multiple congenital anomalies 1, 309801
Genetic Epilepsy v0.307 HCCS Zornitza Stark Marked gene: HCCS as ready
Genetic Epilepsy v0.307 HCCS Zornitza Stark Gene: hccs has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.307 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, 309801
Genetic Epilepsy v0.307 HCN2 Zornitza Stark Mode of inheritance for gene: HCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.306 HCCS Zornitza Stark Publications for gene: HCCS were set to
Genetic Epilepsy v0.306 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from Combined oxidative phosphorylation deficiency 23, MIM#616198 to Combined oxidative phosphorylation deficiency 23, MIM#616198
Genetic Epilepsy v0.306 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Genetic Epilepsy v0.306 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.306 HCCS Zornitza Stark Added comment: Comment on mode of inheritance: XLD
Genetic Epilepsy v0.306 HCCS Zornitza Stark Mode of inheritance for gene: HCCS was changed from Unknown to Other
Genetic Epilepsy v0.305 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, MIM#616198
Genetic Epilepsy v0.305 HCN2 Zornitza Stark Classified gene: HCN2 as Green List (high evidence)
Genetic Epilepsy v0.305 HCN2 Zornitza Stark Gene: hcn2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.304 HCN2 Zornitza Stark edited their review of gene: HCN2: Added comment: Evidence for both mono-allelic and bi-allelic variants causing disease; also evidence for both GoF and LoF as mechanism.; Changed mode of pathogenicity: Other; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874; Changed phenotypes: Genetic epilepsy with febrile seizures plus, Other seizure disorders; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Genetic Epilepsy v0.304 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Genetic Epilepsy v0.304 HCCS Zornitza Stark Classified gene: HCCS as Amber List (moderate evidence)
Genetic Epilepsy v0.304 HCCS Zornitza Stark Gene: hccs has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.303 HCCS Zornitza Stark reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: None; Publications: 17033964; Phenotypes: Linear skin defects with multiple congenital anomalies 1, 309801; Mode of inheritance: Other
Genetic Epilepsy v0.303 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.302 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.301 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23, MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Marked gene: GTPBP2 as ready
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Classified gene: GTPBP2 as Green List (high evidence)
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.300 GSS Zornitza Stark Marked gene: GSS as ready
Genetic Epilepsy v0.300 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Genetic Epilepsy v0.300 GSS Zornitza Stark Phenotypes for gene: GSS were changed from to Glutathione synthetase deficiency, MIM# 266130
Genetic Epilepsy v0.300 GTPBP2 Zornitza Stark gene: GTPBP2 was added
gene: GTPBP2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 26675814; 29449720
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988
Review for gene: GTPBP2 was set to GREEN
gene: GTPBP2 was marked as current diagnostic
Added comment: Four unrelated families with this neurodevelopmental syndrome, seizures are a feature.
Sources: Expert list
Genetic Epilepsy v0.299 GSS Zornitza Stark Mode of inheritance for gene: GSS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.298 GSS Zornitza Stark reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency, MIM# 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Classified gene: GNB5 as Green List (high evidence)
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.297 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Review for gene: GNB5 was set to GREEN
gene: GNB5 was marked as current diagnostic
Added comment: Epilepsy is a reported feature in a number of individuals.
Sources: Expert list
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Marked gene: GLYCTK as ready
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Gene: glyctk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Phenotypes for gene: GLYCTK were changed from to D-glyceric aciduria, MIM# 220120
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Publications for gene: GLYCTK were set to
Genetic Epilepsy v0.295 GLYCTK Zornitza Stark Mode of inheritance for gene: GLYCTK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.294 GLYCTK Zornitza Stark reviewed gene: GLYCTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 3588091, 30637540, 28462797, 20949620, 28190537; Phenotypes: D-glyceric aciduria, MIM# 220120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Marked gene: FUT8 as ready
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Classified gene: FUT8 as Green List (high evidence)
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.293 FUT8 Zornitza Stark gene: FUT8 was added
gene: FUT8 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Review for gene: FUT8 was set to GREEN
gene: FUT8 was marked as current diagnostic
Added comment: Three unrelated individuals, all had seizures as part of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.292 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to 20858599; 20818383; 31434271
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to 20858599, 20818383; 31434271
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.290 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.290 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Genetic Epilepsy v0.289 FOXRED1 Zornitza Stark Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.288 FOXRED1 Zornitza Stark reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20858599, 20818383, 31434271; Phenotypes: Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.288 FKRP Zornitza Stark Marked gene: FKRP as ready
Genetic Epilepsy v0.288 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.288 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153
Genetic Epilepsy v0.287 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153
Genetic Epilepsy v0.286 FKRP Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.285 FKRP Zornitza Stark Classified gene: FKRP as Amber List (moderate evidence)
Genetic Epilepsy v0.285 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.284 FKRP Zornitza Stark reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.284 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Genetic Epilepsy v0.284 FIG4 Zornitza Stark Gene: fig4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.284 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from Polymicrogyria, bilateral temporooccipital, MIM#612691 to Polymicrogyria, bilateral temporooccipital, MIM#612691
Genetic Epilepsy v0.283 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from to Polymicrogyria, bilateral temporooccipital, MIM#612691
Genetic Epilepsy v0.283 FIG4 Zornitza Stark Publications for gene: FIG4 were set to
Genetic Epilepsy v0.282 FIG4 Zornitza Stark Mode of inheritance for gene: FIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.281 FIG4 Zornitza Stark Classified gene: FIG4 as Red List (low evidence)
Genetic Epilepsy v0.281 FIG4 Zornitza Stark Gene: fig4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.280 FIG4 Zornitza Stark reviewed gene: FIG4: Rating: RED; Mode of pathogenicity: None; Publications: 24598713; Phenotypes: Polymicrogyria, bilateral temporooccipital, MIM#612691; Mode of inheritance: None
Genetic Epilepsy v0.280 FH Zornitza Stark Marked gene: FH as ready
Genetic Epilepsy v0.280 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.280 FH Zornitza Stark Phenotypes for gene: FH were changed from Fumarase deficiency, MIM#606812 to Fumarase deficiency, MIM#606812
Genetic Epilepsy v0.279 FH Zornitza Stark Phenotypes for gene: FH were changed from to Fumarase deficiency, MIM#606812
Genetic Epilepsy v0.279 FH Zornitza Stark Publications for gene: FH were set to 20301679; 10805328; 20549362; 15221078; 16151915
Genetic Epilepsy v0.278 FH Zornitza Stark Publications for gene: FH were set to
Genetic Epilepsy v0.278 FH Zornitza Stark Mode of inheritance for gene: FH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.277 FH Zornitza Stark reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301679, 10805328, 20549362, 15221078, 16151915; Phenotypes: Fumarase deficiency, MIM#606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.277 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Genetic Epilepsy v0.277 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.277 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, MIM#146000 to Hypochondroplasia, MIM#146000
Genetic Epilepsy v0.276 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, MIM#146000 to Hypochondroplasia, MIM#146000
Genetic Epilepsy v0.275 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from to Hypochondroplasia, MIM#146000
Genetic Epilepsy v0.274 FGFR3 Zornitza Stark Publications for gene: FGFR3 were set to
Genetic Epilepsy v0.273 FGFR3 Zornitza Stark Mode of inheritance for gene: FGFR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.272 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24630288, 27485793, 23649205, 12794698; Phenotypes: Hypochondroplasia, MIM#146000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Marked gene: FDFT1 as ready
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families, functional data; seizures were a presenting feature.
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Phenotypes for gene: FDFT1 were changed from to Squalene synthase deficiency, MIM# 618156
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Publications for gene: FDFT1 were set to
Genetic Epilepsy v0.271 FDFT1 Zornitza Stark Mode of inheritance for gene: FDFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.271 FDFT1 Zornitza Stark Classified gene: FDFT1 as Green List (high evidence)
Genetic Epilepsy v0.271 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.270 FDFT1 Zornitza Stark reviewed gene: FDFT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29909962; Phenotypes: Squalene synthase deficiency, MIM# 618156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Marked gene: FBXO11 as ready
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Classified gene: FBXO11 as Green List (high evidence)
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.269 FBXO11 Zornitza Stark gene: FBXO11 was added
gene: FBXO11 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO11 were set to 30057029; 29796876
Phenotypes for gene: FBXO11 were set to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089
Review for gene: FBXO11 was set to GREEN
gene: FBXO11 was marked as current diagnostic
Added comment: Seizures are a feature of ~25% of reported individuals with this condition.
Sources: Expert list
Genetic Epilepsy v0.268 FASTKD2 Zornitza Stark Marked gene: FASTKD2 as ready
Genetic Epilepsy v0.268 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.268 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Genetic Epilepsy v0.267 FASTKD2 Zornitza Stark Publications for gene: FASTKD2 were set to
Genetic Epilepsy v0.266 FASTKD2 Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.265 FASTKD2 Zornitza Stark Classified gene: FASTKD2 as Amber List (moderate evidence)
Genetic Epilepsy v0.265 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.264 FASTKD2 Zornitza Stark reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18771761, 28499982; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.264 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Genetic Epilepsy v0.264 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.264 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Genetic Epilepsy v0.263 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.262 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Genetic Epilepsy v0.261 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Genetic Epilepsy v0.261 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.260 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Marked gene: EIF3F as ready
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Classified gene: EIF3F as Green List (high evidence)
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Genetic Epilepsy v0.259 EIF3F Zornitza Stark gene: EIF3F was added
gene: EIF3F was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Mental retardation, autosomal recessive 67, MIM# 618295
Review for gene: EIF3F was set to GREEN
gene: EIF3F was marked as current diagnostic
Added comment: 9 patients with intellectual disability from 7 nonconsang families of European ancestry - all hom for the same mutation in EIF3 (Phe232Val); 6/9 had seizures. This variant is one of the most common protein altering variants in the gene and is present at an allele freq of 0.12% but never hom in Non-Finnish Europeans in gnomAD. Functional studies also done on this variant.
Sources: Expert list
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Classified gene: EFTUD2 as Green List (high evidence)
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.257 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EFTUD2 were set to 22305528; 19334086
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type, MIM#610536
Review for gene: EFTUD2 was set to GREEN
Added comment: Approximately a third of affected individuals are reported as having seizures.
Sources: Expert list
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Marked gene: EFHC1 as ready
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Genetic Epilepsy v0.255 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to 31056551; 28370826; 29750216
Genetic Epilepsy v0.255 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to
Genetic Epilepsy v0.255 EFHC1 Zornitza Stark Mode of inheritance for gene: EFHC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.254 EFHC1 Zornitza Stark Classified gene: EFHC1 as Amber List (moderate evidence)
Genetic Epilepsy v0.254 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.253 EFHC1 Zornitza Stark reviewed gene: EFHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31056551, 28370826, 29750216; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 1}, 607631, {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Marked gene: DPM2 as ready
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from Congenital disorder of glycosylation, type Iu, MIM#615042 to Congenital disorder of glycosylation, type Iu, MIM#615042
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu, MIM#615042
Genetic Epilepsy v0.252 DPM2 Zornitza Stark Publications for gene: DPM2 were set to
Genetic Epilepsy v0.252 DPM2 Zornitza Stark Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.251 DPM2 Zornitza Stark Classified gene: DPM2 as Amber List (moderate evidence)
Genetic Epilepsy v0.251 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.250 DPM2 Zornitza Stark reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23109149; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM#615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.250 DOLK Zornitza Stark Marked gene: DOLK as ready
Genetic Epilepsy v0.250 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.250 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation type Im, 610768 to Congenital disorder of glycosylation type Im, 610768
Genetic Epilepsy v0.249 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to Congenital disorder of glycosylation type Im, 610768
Genetic Epilepsy v0.249 DOLK Zornitza Stark Publications for gene: DOLK were set to
Genetic Epilepsy v0.248 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.247 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 23890587, 28816422, 24144945; Phenotypes: Congenital disorder of glycosylation type Im, 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.247 DNAJC6 Zornitza Stark Marked gene: DNAJC6 as ready
Genetic Epilepsy v0.247 DNAJC6 Zornitza Stark Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.247 DNAJC6 Zornitza Stark Phenotypes for gene: DNAJC6 were changed from Parkinson disease 19b, early-onset, MIM#615528 to Parkinson disease 19b, early-onset, MIM#615528
Genetic Epilepsy v0.246 DNAJC6 Zornitza Stark Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19b, early-onset, MIM#615528
Genetic Epilepsy v0.245 DNAJC6 Zornitza Stark Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.244 DNAJC6 Zornitza Stark Classified gene: DNAJC6 as Amber List (moderate evidence)
Genetic Epilepsy v0.244 DNAJC6 Zornitza Stark Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.243 DNAJC6 Zornitza Stark reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 19b, early-onset, MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Marked gene: SMARCC2 as ready
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Classified gene: SMARCC2 as Green List (high evidence)
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Classified gene: SMARCC2 as Green List (high evidence)
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.242 SMARCC2 Zornitza Stark gene: SMARCC2 was added
gene: SMARCC2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to 30580808
Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362
Review for gene: SMARCC2 was set to GREEN
Added comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features; seizures are part of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.241 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Genetic Epilepsy v0.241 RAB11A Zornitza Stark Gene: rab11a has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.241 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to RED
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, only one had seizures. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Genetic Epilepsy v0.240 DHPS Zornitza Stark Marked gene: DHPS as ready
Genetic Epilepsy v0.240 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Genetic Epilepsy v0.240 DHPS Zornitza Stark Classified gene: DHPS as Green List (high evidence)
Genetic Epilepsy v0.240 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Genetic Epilepsy v0.239 DHPS Zornitza Stark gene: DHPS was added
gene: DHPS was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480
Review for gene: DHPS was set to GREEN
gene: DHPS was marked as current diagnostic
Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features.
Sources: Expert list
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Classified gene: DHDDS as Green List (high evidence)
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Genetic Epilepsy v0.237 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DHDDS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DHDDS were set to 29100083; 27343064
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, MIM#617836; Congenital disorder of glycosylation, MIM#613861
Review for gene: DHDDS was set to GREEN
gene: DHDDS was marked as current diagnostic
Added comment: Five unrelated individuals with mono-allelic variants and a neurodevelopmental phenotype including seizures; one family with compound het variants and CDG phenotype, seizures a prominent feature of the clinical phenotype.
Sources: Expert list
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Marked gene: DEGS1 as ready
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Classified gene: DEGS1 as Green List (high evidence)
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.235 DEGS1 Zornitza Stark gene: DEGS1 was added
gene: DEGS1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 31186544; 30620337; 30620338
Phenotypes for gene: DEGS1 were set to Leukodystrophy hypomyelinating 18, MIM#618404
Review for gene: DEGS1 was set to GREEN
gene: DEGS1 was marked as current diagnostic
Added comment: Seizures are a prominent feature of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.234 DEAF1 Zornitza Stark Marked gene: DEAF1 as ready
Genetic Epilepsy v0.234 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.234 DEAF1 Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.233 DEAF1 Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Marked gene: DEAF1 as ready
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Classified gene: DEAF1 as Green List (high evidence)
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.231 DEAF1 Zornitza Stark gene: DEAF1 was added
gene: DEAF1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DEAF1 were set to 30923367; 26048982; 28940898; 26834045
Phenotypes for gene: DEAF1 were set to Dyskinesia, seizures, and intellectual developmental disorder 617171; autosomal dominant mental retardation 24, MIM# 615828
Review for gene: DEAF1 was set to GREEN
gene: DEAF1 was marked as current diagnostic
Added comment: Seizures are reported in 70-80% individuals with both the mono-allelic and the bi-allelic DEAF1-related conditions.
Sources: Expert list
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Classified gene: DLL1 as Green List (high evidence)
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.229 DLL1 Zornitza Stark gene: DLL1 was added
gene: DLL1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis
Review for gene: DLL1 was set to GREEN
Added comment: Fifteen individuals from 12 unrelated families reported.
Sources: Literature
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Marked gene: MTHFS as ready
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Classified gene: MTHFS as Green List (high evidence)
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.227 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to GREEN
Added comment: Three unrelated individuals reported with supporting biochemical evidence.
Sources: Literature
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Marked gene: CUL4B as ready
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Classified gene: CUL4B as Green List (high evidence)
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.225 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CUL4B were set to 22182342; 17236139
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354
Review for gene: CUL4B was set to GREEN
gene: CUL4B was marked as current diagnostic
Added comment: ~30% of reported individuals have had seizures.
Sources: Expert list
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Marked gene: CTNNA2 as ready
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Classified gene: CTNNA2 as Green List (high evidence)
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.223 CTNNA2 Zornitza Stark gene: CTNNA2 was added
gene: CTNNA2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Review for gene: CTNNA2 was set to GREEN
Added comment: 13 children from three unrelated families reported, epilepsy is part of the phenotype
Sources: Literature
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Marked gene: CREBBP as ready
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Classified gene: CREBBP as Green List (high evidence)
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.221 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CREBBP were set to 29460469
Phenotypes for gene: CREBBP were set to Menke-Hennekam syndrome 1, MIM# 618332
Review for gene: CREBBP was set to GREEN
gene: CREBBP was marked as current diagnostic
Added comment: Exon 30 and 31 CREBBP variants cause a syndrome distinct from Rubinstein-Taybi and according to this case series 21% have epilepsy
Sources: Expert list
Genetic Epilepsy v0.220 COX15 Zornitza Stark Marked gene: COX15 as ready
Genetic Epilepsy v0.220 COX15 Zornitza Stark Gene: cox15 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.220 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000
Genetic Epilepsy v0.219 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000
Genetic Epilepsy v0.218 COX15 Zornitza Stark Publications for gene: COX15 were set to
Genetic Epilepsy v0.217 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.216 COX15 Zornitza Stark Classified gene: COX15 as Amber List (moderate evidence)
Genetic Epilepsy v0.216 COX15 Zornitza Stark Gene: cox15 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.215 COX15 Zornitza Stark reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: None; Publications: 21412973, 12474143, 15863660, 15235026,; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, MIM#615119 and Leigh syndrome #256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.215 COX10 Zornitza Stark Marked gene: COX10 as ready
Genetic Epilepsy v0.215 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.215 COX10 Zornitza Stark Phenotypes for gene: COX10 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Genetic Epilepsy v0.214 COX10 Zornitza Stark Publications for gene: COX10 were set to
Genetic Epilepsy v0.213 COX10 Zornitza Stark Mode of inheritance for gene: COX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.212 COX10 Zornitza Stark Classified gene: COX10 as Amber List (moderate evidence)
Genetic Epilepsy v0.212 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.211 COX10 Zornitza Stark reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 10767350; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.211 COQ6 Zornitza Stark Publications for gene: COQ6 were set to 21540551
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Marked gene: COQ6 as ready
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Gene: coq6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6, MIM#614650
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Publications for gene: COQ6 were set to
Genetic Epilepsy v0.209 COQ6 Zornitza Stark Mode of inheritance for gene: COQ6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.209 COQ6 Zornitza Stark Mode of inheritance for gene: COQ6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.208 COQ6 Zornitza Stark Classified gene: COQ6 as Amber List (moderate evidence)
Genetic Epilepsy v0.208 COQ6 Zornitza Stark Gene: coq6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.207 COQ6 Zornitza Stark reviewed gene: COQ6: Rating: AMBER; Mode of pathogenicity: None; Publications: 21540551; Phenotypes: Coenzyme Q10 deficiency, primary, 6, MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.207 COG8 Zornitza Stark Phenotypes for gene: COG8 were changed from Congenital disorder of glycosylation, type IIh, 611182 to Congenital disorder of glycosylation, type IIh, 611182
Genetic Epilepsy v0.206 COG8 Zornitza Stark Marked gene: COG8 as ready
Genetic Epilepsy v0.206 COG8 Zornitza Stark Gene: cog8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.206 COG8 Zornitza Stark Publications for gene: COG8 were set to 28619360; 17220172; 17331980
Genetic Epilepsy v0.206 COG8 Zornitza Stark Phenotypes for gene: COG8 were changed from to Congenital disorder of glycosylation, type IIh, 611182
Genetic Epilepsy v0.205 COG8 Zornitza Stark Publications for gene: COG8 were set to
Genetic Epilepsy v0.205 COG8 Zornitza Stark Mode of inheritance for gene: COG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.204 COG8 Zornitza Stark Classified gene: COG8 as Amber List (moderate evidence)
Genetic Epilepsy v0.204 COG8 Zornitza Stark Gene: cog8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.203 COG8 Zornitza Stark reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: None; Publications: 28619360, 17220172, 17331980; Phenotypes: Congenital disorder of glycosylation, type IIh, 611182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.203 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from Coenzyme Q10 deficiency, primary, 6, MIM#614650 to Coenzyme Q10 deficiency, primary, 6, MIM#614650
Genetic Epilepsy v0.202 COG6 Zornitza Stark Marked gene: COG6 as ready
Genetic Epilepsy v0.202 COG6 Zornitza Stark Gene: cog6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.202 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Coenzyme Q10 deficiency, primary, 6, MIM#614650
Genetic Epilepsy v0.202 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.201 COG6 Zornitza Stark Classified gene: COG6 as Amber List (moderate evidence)
Genetic Epilepsy v0.201 COG6 Zornitza Stark Gene: cog6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.200 COG6 Zornitza Stark reviewed gene: COG6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 6, MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.200 COG4 Zornitza Stark Marked gene: COG4 as ready
Genetic Epilepsy v0.200 COG4 Zornitza Stark Gene: cog4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.200 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from Congenital disorder of glycosylation, type IIj, MIM#613489 to Congenital disorder of glycosylation, type IIj, MIM#613489
Genetic Epilepsy v0.199 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from to Congenital disorder of glycosylation, type IIj, MIM#613489
Genetic Epilepsy v0.199 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.198 COG4 Zornitza Stark Classified gene: COG4 as Amber List (moderate evidence)
Genetic Epilepsy v0.198 COG4 Zornitza Stark Gene: cog4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.197 COG4 Zornitza Stark reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIj, MIM#613489; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.197 CHD4 Zornitza Stark Publications for gene: CHD4 were set to 27479907; 27616479
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Gene: chd4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM# 617159
Genetic Epilepsy v0.195 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.194 CHD4 Zornitza Stark Classified gene: CHD4 as Red List (low evidence)
Genetic Epilepsy v0.194 CHD4 Zornitza Stark Gene: chd4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.193 CHD4 Zornitza Stark reviewed gene: CHD4: Rating: RED; Mode of pathogenicity: None; Publications: 27479907, 27616479; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM# 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.193 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Genetic Epilepsy v0.193 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.193 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, 617507 to PEHO syndrome-like, 617507
Genetic Epilepsy v0.192 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, 617507
Genetic Epilepsy v0.192 CCDC88A Zornitza Stark Publications for gene: CCDC88A were set to
Genetic Epilepsy v0.191 CCDC88A Zornitza Stark Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.190 CCDC88A Zornitza Stark reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Classified gene: CACNA1B as Green List (high evidence)
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.189 CACNA1B Zornitza Stark gene: CACNA1B was added
gene: CACNA1B was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1B were set to 30982612
Phenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497
Review for gene: CACNA1B was set to GREEN
gene: CACNA1B was marked as current diagnostic
Added comment: Three unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Marked gene: ATP6V1A as ready
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.187 ATP6V1A Zornitza Stark gene: ATP6V1A was added
gene: ATP6V1A was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 29668857; 28065471
Phenotypes for gene: ATP6V1A were set to Epileptic encephalopathy, infantile or early childhood, 618012; Cutis laxa, type IID, 617403
Review for gene: ATP6V1A was set to GREEN
gene: ATP6V1A was marked as current diagnostic
Added comment: Monoallelic variants associated with Epileptic encephalopathy, infantile or early childhood, 3 618012 and biallelic variants associated with Cutis laxa, autosomal recessive, type IID 617403. Both phenotypes include seizures.
Sources: Expert list
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Classified gene: ATP6V0A2 as Green List (high evidence)
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.185 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V0A2 were set to 18157129; 22773132
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, type IIA,219200
Review for gene: ATP6V0A2 was set to GREEN
gene: ATP6V0A2 was marked as current diagnostic
Added comment: AR cutis laxa type IIa (ARCLA2A) is a multi-system disorder with features including cutis laxa, abnormal growth, dev delay, and skeletal abnormalities. Cobblestone-like brain dysgenesis manifests as developmental delay and an epileptic syndrome: Morova et al, 2008 - 10 patients with cutis laxa and clinical features included epilepsy. Van Maldergem et al, 2008 - 11 patients from 9 families - 5/11 developed refractory seizures. All but 1 patient had variants in ATP6V0A2.
Sources: Expert list
Genetic Epilepsy v0.184 Zornitza Stark Panel name changed from Genetic Epilepsy_AustralianGenomics_VCGS to Genetic Epilepsy
Panel types changed to Victorian Clinical Genetics Services
Genetic Epilepsy v0.183 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Genetic Epilepsy v0.183 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.183 SNORD118 Zornitza Stark Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Genetic Epilepsy v0.182 SNORD118 Zornitza Stark Publications for gene: SNORD118 were set to
Genetic Epilepsy v0.181 SNORD118 Zornitza Stark Mode of inheritance for gene: SNORD118 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.180 AGMO Zornitza Stark Publications for gene: AGMO were set to 31555905
Genetic Epilepsy v0.179 AGMO Sue White Marked gene: AGMO as ready
Genetic Epilepsy v0.179 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Genetic Epilepsy v0.179 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Genetic Epilepsy v0.179 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Genetic Epilepsy v0.178 AGMO Sue White gene: AGMO was added
gene: AGMO was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGMO were set to 31555905
Phenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy
Penetrance for gene: AGMO were set to Complete
Review for gene: AGMO was set to GREEN
Added comment: biallelic LOF and missense variants reported
Sources: Literature
Genetic Epilepsy v0.177 MDH1 Sue White Marked gene: MDH1 as ready
Genetic Epilepsy v0.177 MDH1 Sue White Gene: mdh1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.177 MDH1 Sue White Classified gene: MDH1 as Amber List (moderate evidence)
Genetic Epilepsy v0.177 MDH1 Sue White Gene: mdh1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.176 MDH1 Sue White gene: MDH1 was added
gene: MDH1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: MDH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDH1 were set to 31538237
Phenotypes for gene: MDH1 were set to epilepsy; microcephaly; intellectual disability
Penetrance for gene: MDH1 were set to Complete
Added comment: single consanguinous family with biallelic missense variant in this gene and epilepsy, microcephaly, ID
Sources: Literature
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Marked gene: NUP214 as ready
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Classified gene: NUP214 as Green List (high evidence)
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.174 NUP214 Zornitza Stark gene: NUP214 was added
gene: NUP214 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128; 30758658
Phenotypes for gene: NUP214 were set to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Review for gene: NUP214 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Literature
Genetic Epilepsy v0.173 ATP5A1 Zornitza Stark Marked gene: ATP5A1 as ready
Genetic Epilepsy v0.173 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.173 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228
Genetic Epilepsy v0.172 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228
Genetic Epilepsy v0.172 ATP5A1 Zornitza Stark Publications for gene: ATP5A1 were set to
Genetic Epilepsy v0.171 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.170 ATP5A1 Zornitza Stark Classified gene: ATP5A1 as Amber List (moderate evidence)
Genetic Epilepsy v0.170 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.169 ATP5A1 Zornitza Stark reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23599390; Phenotypes: Combined oxidative phosphorylation deficiency 22 616045, Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.169 ASAH1 Zornitza Stark Classified gene: ASAH1 as Green List (high evidence)
Genetic Epilepsy v0.169 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.168 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASAH1 were set to 8955159; 22703880; 27026573
Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Review for gene: ASAH1 was set to GREEN
Added comment: AR SMA with progressive myoclonic epilepsy. Zhou et al, 2012 - 6 patients from 3 unrelated families. Family 1 - 3 aff sibs of consang turkish parents - progressive myoclonic epilepsy developed around 7 years of age. Family 2 - 2 Italian sisters - unrelated parents both had geralised epileptic seizures and myoclonic jerks from around 12 years of age. Family 3 - 1 aff girl - myoclonic seizures at age 11. First two families - hom missense variant T42M and family 3, compound het for T42M and a gene deletion, expression studies done. Dyment et al, 2014 - girl born of N.European descent - at 10 years, absence and atonic seizures and myoclonic jerks - compound het (missense and a nonsense) and segregated with disease.
Sources: Expert list
Genetic Epilepsy v0.167 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Genetic Epilepsy v0.167 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.167 ARG1 Zornitza Stark Classified gene: ARG1 as Green List (high evidence)
Genetic Epilepsy v0.167 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.166 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 2365823; 29726057
Phenotypes for gene: ARG1 were set to Argininemia, 207800
Review for gene: ARG1 was set to GREEN
Added comment: Seizures are part of the phenotype of this metabolic condition.
Sources: Expert list
Genetic Epilepsy v0.165 AP2M1 Zornitza Stark Marked gene: AP2M1 as ready
Genetic Epilepsy v0.165 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.165 AP2M1 Zornitza Stark Classified gene: AP2M1 as Green List (high evidence)
Genetic Epilepsy v0.165 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.164 AP2M1 Zornitza Stark Classified gene: AP2M1 as Green List (high evidence)
Genetic Epilepsy v0.164 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.163 AP2M1 Zornitza Stark gene: AP2M1 was added
gene: AP2M1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2M1 were set to 31104773
Phenotypes for gene: AP2M1 were set to Intellectual developmental disorder 60 with seizures, MIM# 618587
Review for gene: AP2M1 was set to GREEN
Added comment: Four unrelated individuals reported, recurrent variant, NM_004068.3:c.508C>T or p.Arg170Trp.
Sources: Expert list
Genetic Epilepsy v0.162 ALKBH8 Zornitza Stark Marked gene: ALKBH8 as ready
Genetic Epilepsy v0.162 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.162 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Amber List (moderate evidence)
Genetic Epilepsy v0.162 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.161 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Amber List (moderate evidence)
Genetic Epilepsy v0.161 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.160 ALKBH8 Zornitza Stark gene: ALKBH8 was added
gene: ALKBH8 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALKBH8 were set to 31079898
Phenotypes for gene: ALKBH8 were set to Intellectual developmental disorder, autosomal recessive 71, MIM# 618504
Review for gene: ALKBH8 was set to AMBER
Added comment: Two unrelated families reported, 6/7 affected individuals had seizures. Some functional data.
Sources: Expert list
Genetic Epilepsy v0.159 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Genetic Epilepsy v0.159 AKT1 Zornitza Stark Gene: akt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.159 AKT1 Zornitza Stark Phenotypes for gene: AKT1 were changed from to Proteus syndrome, somatic, MIM# 176920
Genetic Epilepsy v0.158 AKT1 Zornitza Stark Publications for gene: AKT1 were set to
Genetic Epilepsy v0.157 AKT1 Zornitza Stark Mode of inheritance for gene: AKT1 was changed from Unknown to Other
Genetic Epilepsy v0.156 AKT1 Zornitza Stark Tag somatic tag was added to gene: AKT1.
Genetic Epilepsy v0.156 AKT1 Zornitza Stark reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21793738; Phenotypes: Proteus syndrome, somatic, MIM# 176920; Mode of inheritance: Other
Genetic Epilepsy v0.156 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Genetic Epilepsy v0.156 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.156 AFF3 Zornitza Stark Classified gene: AFF3 as Green List (high evidence)
Genetic Epilepsy v0.156 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.155 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AFF3 were set to Intellectual disability; seizures; hypertrichosis
Review for gene: AFF3 was set to GREEN
Added comment: Voisin et al, 2019 (preprint) - New AD disorder associated with de novo missense variants in AFF3. 10 unrelated affected individuals with de novo missense variants. 10/11 had epilepsy. Functional data including animal model.
Sources: Expert list
Genetic Epilepsy v0.154 ADAT3 Zornitza Stark Marked gene: ADAT3 as ready
Genetic Epilepsy v0.154 ADAT3 Zornitza Stark Gene: adat3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.154 ADAT3 Zornitza Stark Classified gene: ADAT3 as Amber List (moderate evidence)
Genetic Epilepsy v0.154 ADAT3 Zornitza Stark Gene: adat3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.153 ADAT3 Zornitza Stark gene: ADAT3 was added
gene: ADAT3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAT3 were set to 26842963; 23620220; 30296593
Phenotypes for gene: ADAT3 were set to Mental retardation autosomal recessive 36, 615286
Review for gene: ADAT3 was set to AMBER
Added comment: ID gene, some individuals reported as having seizures but phenotype yet to be fully elucidated. Note founder variant.
Sources: Expert list
Genetic Epilepsy v0.152 AARS2 Zornitza Stark Marked gene: AARS2 as ready
Genetic Epilepsy v0.152 AARS2 Zornitza Stark Gene: aars2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.152 AARS2 Zornitza Stark Phenotypes for gene: AARS2 were changed from to Combined oxidative phosphorylation deficiency 8, 614096; Leukoencephalopathy progressive with ovarian failure, 615889
Genetic Epilepsy v0.151 AARS2 Zornitza Stark Publications for gene: AARS2 were set to
Genetic Epilepsy v0.150 AARS2 Zornitza Stark Mode of inheritance for gene: AARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.149 AARS2 Zornitza Stark Classified gene: AARS2 as Red List (low evidence)
Genetic Epilepsy v0.149 AARS2 Zornitza Stark Gene: aars2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.148 AARS2 Zornitza Stark reviewed gene: AARS2: Rating: RED; Mode of pathogenicity: None; Publications: 21549344, 25817015; Phenotypes: Combined oxidative phosphorylation deficiency 8, 614096, Leukoencephalopathy progressive with ovarian failure, 615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.148 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Genetic Epilepsy v0.148 SETD5 Zornitza Stark Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.
Genetic Epilepsy v0.148 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.148 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Genetic Epilepsy v0.147 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Genetic Epilepsy v0.146 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.145 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, MIM# 617899 to Leukodystrophy, hypomyelinating, 14, MIM# 617899
Genetic Epilepsy v0.145 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Genetic Epilepsy v0.145 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.145 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899
Genetic Epilepsy v0.144 UFM1 Zornitza Stark Publications for gene: UFM1 were set to
Genetic Epilepsy v0.143 UFM1 Zornitza Stark Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.142 UFM1 Zornitza Stark reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.142 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from Mental retardation, autosomal recessive 61, MIM# 617773 to Mental retardation, autosomal recessive 61, MIM# 617773
Genetic Epilepsy v0.142 RUSC2 Zornitza Stark Marked gene: RUSC2 as ready
Genetic Epilepsy v0.142 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.142 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from to Mental retardation, autosomal recessive 61, MIM# 617773
Genetic Epilepsy v0.141 RUSC2 Zornitza Stark Publications for gene: RUSC2 were set to 27612186
Genetic Epilepsy v0.140 RUSC2 Zornitza Stark Publications for gene: RUSC2 were set to
Genetic Epilepsy v0.139 RUSC2 Zornitza Stark Mode of inheritance for gene: RUSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.138 RUSC2 Zornitza Stark Classified gene: RUSC2 as Amber List (moderate evidence)
Genetic Epilepsy v0.138 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.137 P4HTM Zornitza Stark Marked gene: P4HTM as ready
Genetic Epilepsy v0.137 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.137 P4HTM Zornitza Stark Classified gene: P4HTM as Green List (high evidence)
Genetic Epilepsy v0.137 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.136 P4HTM Zornitza Stark gene: P4HTM was added
gene: P4HTM was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 25078763; 30940925
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to GREEN
Added comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype.
Sources: Literature
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Marked gene: SETD1A as ready
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Gene: setd1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Classified gene: SETD1A as Green List (high evidence)
Genetic Epilepsy v0.135 SETD1A Zornitza Stark Gene: setd1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.134 SETD1A Zornitza Stark gene: SETD1A was added
gene: SETD1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD1A were set to 31197650
Phenotypes for gene: SETD1A were set to Epilepsy
Review for gene: SETD1A was set to GREEN
Added comment: Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data.
Sources: Literature
Genetic Epilepsy v0.133 TRPM3 Zornitza Stark Marked gene: TRPM3 as ready
Genetic Epilepsy v0.133 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.133 TRPM3 Zornitza Stark Classified gene: TRPM3 as Green List (high evidence)
Genetic Epilepsy v0.133 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.132 TRPM3 Zornitza Stark Classified gene: TRPM3 as Green List (high evidence)
Genetic Epilepsy v0.132 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.131 TRPM3 Zornitza Stark gene: TRPM3 was added
gene: TRPM3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM3 were set to 31278393
Phenotypes for gene: TRPM3 were set to Intellectual disability; epilepsy
Review for gene: TRPM3 was set to GREEN
Added comment: 8 unrelated individuals with de novo variants in this gene. Recurrent variant p.(Val837Met) identified in 7/8.
Sources: Literature
Genetic Epilepsy v0.130 SCN8A Zornitza Stark Marked gene: SCN8A as ready
Genetic Epilepsy v0.130 SCN8A Zornitza Stark Gene: scn8a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.130 SCN8A Zornitza Stark Phenotypes for gene: SCN8A were changed from to Epileptic encephalopathy, early infantile, 13, MIM# 614558; dominant and recessive
Genetic Epilepsy v0.129 SCN8A Zornitza Stark Publications for gene: SCN8A were set to
Genetic Epilepsy v0.128 SCN8A Zornitza Stark Mode of pathogenicity for gene: SCN8A was changed from to Other
Genetic Epilepsy v0.127 SCN8A Zornitza Stark Mode of inheritance for gene: SCN8A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.126 SCN8A Zornitza Stark reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31625145; Phenotypes: Epileptic encephalopathy, early infantile, 13, MIM# 614558, dominant and recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.126 NUS1 Zornitza Stark Marked gene: NUS1 as ready
Genetic Epilepsy v0.126 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.126 NUS1 Zornitza Stark Classified gene: NUS1 as Green List (high evidence)
Genetic Epilepsy v0.126 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.125 NUS1 Zornitza Stark gene: NUS1 was added
gene: NUS1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUS1 were set to 31656175; 29100083
Phenotypes for gene: NUS1 were set to Epilepsy; intellectual disability
Review for gene: NUS1 was set to GREEN
Added comment: Five individuals reported with de novo variants in this gene and epilepsy/ID phenotype (4 truncating variants and a small deletion).
Sources: Literature
Genetic Epilepsy v0.124 UGP2 Zornitza Stark Marked gene: UGP2 as ready
Genetic Epilepsy v0.124 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.124 UGP2 Zornitza Stark Classified gene: UGP2 as Green List (high evidence)
Genetic Epilepsy v0.124 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.123 UGP2 Zornitza Stark gene: UGP2 was added
gene: UGP2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGP2 were set to 31820119
Phenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly
Review for gene: UGP2 was set to GREEN
Added comment: 22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain.
Sources: Literature
Genetic Epilepsy v0.122 STXBP1 Zornitza Stark Marked gene: STXBP1 as ready
Genetic Epilepsy v0.122 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.122 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to 31855252
Genetic Epilepsy v0.121 STXBP1 Zornitza Stark Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4, MIM#612164
Genetic Epilepsy v0.120 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to
Genetic Epilepsy v0.119 STXBP1 Zornitza Stark Mode of pathogenicity for gene: STXBP1 was changed from Other to Other
Genetic Epilepsy v0.118 STXBP1 Zornitza Stark Mode of pathogenicity for gene: STXBP1 was changed from to Other
Genetic Epilepsy v0.117 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.117 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.116 STXBP1 Zornitza Stark reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31855252; Phenotypes: Epileptic encephalopathy, early infantile, 4, MIM#612164; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.116 ABAT Zornitza Stark Marked gene: ABAT as ready
Genetic Epilepsy v0.116 ABAT Zornitza Stark Added comment: Comment when marking as ready: Seizures are a prominent part of the phenotype, EEGs show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave.
Genetic Epilepsy v0.116 ABAT Zornitza Stark Gene: abat has been classified as Green List (High Evidence).
Genetic Epilepsy v0.116 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM#613163
Genetic Epilepsy v0.115 ABAT Zornitza Stark Publications for gene: ABAT were set to
Genetic Epilepsy v0.114 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.113 ADRA2B Zornitza Stark Marked gene: ADRA2B as ready
Genetic Epilepsy v0.113 ADRA2B Zornitza Stark Added comment: Comment when marking as ready: Association has in fact been REFUTED by Corbett et al 2019, who identified an alternative cause in the original families.
Genetic Epilepsy v0.113 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.113 ADRA2B Zornitza Stark Phenotypes for gene: ADRA2B were changed from to Cortical myoclonus and epilepsy
Genetic Epilepsy v0.112 ADRA2B Zornitza Stark Publications for gene: ADRA2B were set to
Genetic Epilepsy v0.111 ADRA2B Zornitza Stark Classified gene: ADRA2B as Red List (low evidence)
Genetic Epilepsy v0.111 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.110 ADRA2B Zornitza Stark Classified gene: ADRA2B as Amber List (moderate evidence)
Genetic Epilepsy v0.110 ADRA2B Zornitza Stark Gene: adra2b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.109 AGO3 Zornitza Stark Marked gene: AGO3 as ready
Genetic Epilepsy v0.109 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.109 AGO3 Zornitza Stark Phenotypes for gene: AGO3 were changed from to Intellectual disability
Genetic Epilepsy v0.108 AGO3 Zornitza Stark Publications for gene: AGO3 were set to
Genetic Epilepsy v0.107 AGO3 Zornitza Stark Mode of inheritance for gene: AGO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.106 AGO3 Zornitza Stark Classified gene: AGO3 as Red List (low evidence)
Genetic Epilepsy v0.106 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.105 ASTN1 Zornitza Stark Phenotypes for gene: ASTN1 were changed from Intellectual disability; epilepsy; structural brain malformations to Intellectual disability; epilepsy; structural brain malformations
Genetic Epilepsy v0.105 ASTN1 Zornitza Stark Marked gene: ASTN1 as ready
Genetic Epilepsy v0.105 ASTN1 Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.105 ASTN1 Zornitza Stark Phenotypes for gene: ASTN1 were changed from to Intellectual disability; epilepsy; structural brain malformations
Genetic Epilepsy v0.104 ASTN1 Zornitza Stark Publications for gene: ASTN1 were set to
Genetic Epilepsy v0.103 ASTN1 Zornitza Stark Mode of inheritance for gene: ASTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.102 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Genetic Epilepsy v0.102 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Genetic Epilepsy v0.102 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.102 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Genetic Epilepsy v0.101 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to
Genetic Epilepsy v0.100 BRAT1 Zornitza Stark Mode of inheritance for gene: BRAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.99 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Genetic Epilepsy v0.99 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.99 MED17 Zornitza Stark Marked gene: MED17 as ready
Genetic Epilepsy v0.99 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.99 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Genetic Epilepsy v0.98 MED17 Zornitza Stark Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.97 MED17 Zornitza Stark Publications for gene: MED17 were set to
Genetic Epilepsy v0.96 PIGG Zornitza Stark Marked gene: PIGG as ready
Genetic Epilepsy v0.96 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
Genetic Epilepsy v0.96 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from to Mental retardation, autosomal recessive 53, MIM#616917
Genetic Epilepsy v0.95 PIGG Zornitza Stark Publications for gene: PIGG were set to
Genetic Epilepsy v0.94 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.93 TBCD Zornitza Stark Marked gene: TBCD as ready
Genetic Epilepsy v0.93 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.93 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Genetic Epilepsy v0.92 TBCD Zornitza Stark Publications for gene: TBCD were set to
Genetic Epilepsy v0.91 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.90 ADAM22 Zornitza Stark Marked gene: ADAM22 as ready
Genetic Epilepsy v0.90 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.90 PIGP Zornitza Stark Marked gene: PIGP as ready
Genetic Epilepsy v0.90 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.90 PIGP Zornitza Stark Classified gene: PIGP as Amber List (moderate evidence)
Genetic Epilepsy v0.90 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.89 PIGP Zornitza Stark gene: PIGP was added
gene: PIGP was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 28334793; 31139695
Phenotypes for gene: PIGP were set to Epileptic encephalopathy, early infantile, 55, MIM# 617599
Review for gene: PIGP was set to AMBER
Added comment: Three individuals from two unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.88 NEUROD2 Zornitza Stark Marked gene: NEUROD2 as ready
Genetic Epilepsy v0.88 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.88 NEUROD2 Zornitza Stark Classified gene: NEUROD2 as Green List (high evidence)
Genetic Epilepsy v0.88 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.87 NEUROD2 Zornitza Stark gene: NEUROD2 was added
gene: NEUROD2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NEUROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEUROD2 were set to 30323019
Phenotypes for gene: NEUROD2 were set to Epileptic encephalopathy, early infantile, 72, MIM# 618374
Review for gene: NEUROD2 was set to GREEN
Added comment: Two unrelated individuals with de novo missense variants in this gene, animal model.
Sources: Expert list
Genetic Epilepsy v0.86 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Genetic Epilepsy v0.86 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.86 GOT2 Zornitza Stark Classified gene: GOT2 as Green List (high evidence)
Genetic Epilepsy v0.86 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.85 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Epileptic encephalopathy, early infantile, 82, MIM# 618721
Review for gene: GOT2 was set to GREEN
Added comment: Four individuals from three unrelated families reported. Treatment with pyridoxine and serine ameliorated the phenotype.
Sources: Expert list
Genetic Epilepsy v0.84 PIGQ Zornitza Stark Marked gene: PIGQ as ready
Genetic Epilepsy v0.84 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Genetic Epilepsy v0.84 PIGQ Zornitza Stark Classified gene: PIGQ as Green List (high evidence)
Genetic Epilepsy v0.84 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Genetic Epilepsy v0.83 PIGQ Zornitza Stark gene: PIGQ was added
gene: PIGQ was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGQ were set to 25558065; 24463883; 31148362
Phenotypes for gene: PIGQ were set to Epileptic encephalopathy, early infantile, 77, MIM# 618548
Review for gene: PIGQ was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.82 NTRK2 Zornitza Stark Marked gene: NTRK2 as ready
Genetic Epilepsy v0.82 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.82 NTRK2 Zornitza Stark Classified gene: NTRK2 as Green List (high evidence)
Genetic Epilepsy v0.82 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.81 NTRK2 Zornitza Stark gene: NTRK2 was added
gene: NTRK2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NTRK2 were set to 29100083
Phenotypes for gene: NTRK2 were set to Epileptic encephalopathy, early infantile, 58, MIM# 617830
Review for gene: NTRK2 was set to GREEN
Added comment: Four unrelated individuals with recurrent de novo missense variant in this gene reported.
Sources: Expert list
Genetic Epilepsy v0.80 ADAM22 Zornitza Stark Classified gene: ADAM22 as Amber List (moderate evidence)
Genetic Epilepsy v0.80 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.79 ADAM22 Zornitza Stark gene: ADAM22 was added
gene: ADAM22 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM22 were set to 27066583; 30237576
Phenotypes for gene: ADAM22 were set to Epileptic encephalopathy, early infantile, 61, MIM# 617933
Review for gene: ADAM22 was set to AMBER
Added comment: Two families reported; the second one as part of a large consanguineous cohort.
Sources: Expert list
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Marked gene: PHACTR1 as ready
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Genetic Epilepsy v0.78 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.77 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Genetic Epilepsy v0.77 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.76 PHACTR1 Zornitza Stark gene: PHACTR1 was added
gene: PHACTR1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHACTR1 were set to 23033978; 30256902
Phenotypes for gene: PHACTR1 were set to Epileptic encephalopathy, early infantile, 70, MIM# 618298
Review for gene: PHACTR1 was set to GREEN
Added comment: Three unrelated individuals reported with de novo variants in this gene.
Sources: Expert list
Genetic Epilepsy v0.75 GABRB1 Zornitza Stark Marked gene: GABRB1 as ready
Genetic Epilepsy v0.75 GABRB1 Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.75 GABRB1 Zornitza Stark Classified gene: GABRB1 as Green List (high evidence)
Genetic Epilepsy v0.75 GABRB1 Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.74 GABRB1 Zornitza Stark gene: GABRB1 was added
gene: GABRB1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB1 were set to 23934111; 27273810; 31618474
Phenotypes for gene: GABRB1 were set to Epileptic encephalopathy, early infantile, 45, MIM# 617153
Review for gene: GABRB1 was set to GREEN
Added comment: Three individuals reported, two as part of large epilepsy cohorts.
Sources: Expert list
Genetic Epilepsy v0.73 GABRA2 Zornitza Stark Marked gene: GABRA2 as ready
Genetic Epilepsy v0.73 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.73 GABRA2 Zornitza Stark Classified gene: GABRA2 as Green List (high evidence)
Genetic Epilepsy v0.73 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.72 GABRA2 Zornitza Stark gene: GABRA2 was added
gene: GABRA2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA2 were set to 29961870; 31032849; 29422393
Phenotypes for gene: GABRA2 were set to Epileptic encephalopathy, early infantile, 78, MIM# 618557
Review for gene: GABRA2 was set to GREEN
Added comment: Five unrelated individuals reported in three publications.
Sources: Expert list
Genetic Epilepsy v0.71 GUF1 Zornitza Stark Marked gene: GUF1 as ready
Genetic Epilepsy v0.71 GUF1 Zornitza Stark Gene: guf1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.71 GUF1 Zornitza Stark gene: GUF1 was added
gene: GUF1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GUF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUF1 were set to 26486472
Phenotypes for gene: GUF1 were set to Epileptic encephalopathy, early infantile, 40, MIM# 617065
Review for gene: GUF1 was set to RED
Added comment: Single family reported with homozygous missense in three sibs.
Sources: Expert list
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Marked gene: CPLX1 as ready
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Classified gene: CPLX1 as Green List (high evidence)
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.69 CPLX1 Zornitza Stark gene: CPLX1 was added
gene: CPLX1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CPLX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPLX1 were set to 26539891; 28422131
Phenotypes for gene: CPLX1 were set to Epileptic encephalopathy, early infantile, 63, MIM# 617976
Review for gene: CPLX1 was set to GREEN
Added comment: Five individuals from three unrelated families reported in larger neurodevelopmental cohorts.
Sources: Expert list
Genetic Epilepsy v0.68 RNF13 Zornitza Stark Marked gene: RNF13 as ready
Genetic Epilepsy v0.68 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.68 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Genetic Epilepsy v0.68 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.67 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Genetic Epilepsy v0.67 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.66 RNF13 Zornitza Stark gene: RNF13 was added
gene: RNF13 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF13 were set to 30595371
Phenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73, MIM# 618379
Mode of pathogenicity for gene: RNF13 was set to Other
Review for gene: RNF13 was set to GREEN
Added comment: Three unrelated individuals with de novo gain-of-function variants in this gene reported; severe neurodegenerative disorder, seizures are a prominent part of the phenotype.
Sources: Literature
Genetic Epilepsy v0.65 GLS Zornitza Stark Marked gene: GLS as ready
Genetic Epilepsy v0.65 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.65 GLS Zornitza Stark Classified gene: GLS as Amber List (moderate evidence)
Genetic Epilepsy v0.65 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.64 GLS Zornitza Stark gene: GLS was added
gene: GLS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLS were set to 30575854
Phenotypes for gene: GLS were set to Epileptic encephalopathy, early infantile, 71, MIM# 618328
Review for gene: GLS was set to AMBER
Added comment: Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels.
Sources: Expert list
Genetic Epilepsy v0.63 CAD Zornitza Stark Marked gene: CAD as ready
Genetic Epilepsy v0.63 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Genetic Epilepsy v0.63 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Genetic Epilepsy v0.63 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Genetic Epilepsy v0.62 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 28007989; 25678555
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# 616457
Review for gene: CAD was set to GREEN
Added comment: Five individuals from four unrelated families reported, seizures are a prominent part of the phenotype of this progressive neurometabolic condition.
Sources: Expert list
Genetic Epilepsy v0.61 PARS2 Zornitza Stark Marked gene: PARS2 as ready
Genetic Epilepsy v0.61 PARS2 Zornitza Stark Gene: pars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.61 PARS2 Zornitza Stark Classified gene: PARS2 as Green List (high evidence)
Genetic Epilepsy v0.61 PARS2 Zornitza Stark Gene: pars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.60 PARS2 Zornitza Stark gene: PARS2 was added
gene: PARS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARS2 were set to 29410512; 28077841; 25629079; 29915213
Phenotypes for gene: PARS2 were set to Epileptic encephalopathy, early infantile, 75, MIM# 618437
Review for gene: PARS2 was set to GREEN
Added comment: Eight individuals from four unrelated families reported; seizures are a prominent part of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.59 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Genetic Epilepsy v0.59 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.58 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMXL2 were set to 31688942; 30237576
Phenotypes for gene: DMXL2 were set to Epileptic encephalopathy, early infantile, 81, MIM# 618663
Review for gene: DMXL2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Genetic Epilepsy v0.57 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Genetic Epilepsy v0.57 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.57 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Genetic Epilepsy v0.57 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.56 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 31754459; 27904971
Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration
Review for gene: SLC5A6 was set to GREEN
Added comment: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Genetic Epilepsy v0.55 KCNT2 Zornitza Stark Marked gene: KCNT2 as ready
Genetic Epilepsy v0.55 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.55 KCNT2 Zornitza Stark Phenotypes for gene: KCNT2 were changed from Developmental and epileptic encephalopathy to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy
Genetic Epilepsy v0.54 KCNT2 Zornitza Stark Publications for gene: KCNT2 were set to (PMID: 29069600; 29740868)
Genetic Epilepsy v0.53 KCNT2 Zornitza Stark Classified gene: KCNT2 as Green List (high evidence)
Genetic Epilepsy v0.53 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.52 ASNS Zornitza Stark Marked gene: ASNS as ready
Genetic Epilepsy v0.52 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Genetic Epilepsy v0.52 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination to Asparagine synthetase deficiency, MIM#615574; microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination
Genetic Epilepsy v0.51 ASNS Zornitza Stark Publications for gene: ASNS were set to (PMID 24139043; 25227173; 29279279; 27469131; 28776279; 29375865; 26318253)
Genetic Epilepsy v0.50 ASNS Zornitza Stark Classified gene: ASNS as Green List (high evidence)
Genetic Epilepsy v0.50 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Genetic Epilepsy v0.49 CLCN4 Zornitza Stark Marked gene: CLCN4 as ready
Genetic Epilepsy v0.49 CLCN4 Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.49 CLCN4 Zornitza Stark Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome, MIM#300114; intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity
Genetic Epilepsy v0.48 CLCN4 Zornitza Stark Publications for gene: CLCN4 were set to
Genetic Epilepsy v0.47 CLCN4 Zornitza Stark Mode of inheritance for gene: CLCN4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.46 CLCN4 Elizabeth Palmer reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 27550844); Phenotypes: intellectual disability, epilepsy, autistic features, mood disorders, cerebral white matter changes, progressive appendicular spasticity; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.46 ASNS Elizabeth Palmer gene: ASNS was added
gene: ASNS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASNS were set to (PMID 24139043; 25227173; 29279279; 27469131; 28776279; 29375865; 26318253)
Phenotypes for gene: ASNS were set to microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination
Penetrance for gene: ASNS were set to Complete
Mode of pathogenicity for gene: ASNS was set to Other
Review for gene: ASNS was set to GREEN
Added comment: Drug resistant seizures are common (12/17 reported cases) in Asparagine Synthetase deficiency. Reported variants are missense variants (homozygous or compound heterozygous) in the highly conserved asparagine synthetase domain and result in reduced enzymatic activity.
Sources: Literature
Genetic Epilepsy v0.46 ATN1 Elizabeth Palmer reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.46 KCNT2 Elizabeth Palmer gene: KCNT2 was added
gene: KCNT2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNT2 were set to (PMID: 29069600; 29740868)
Phenotypes for gene: KCNT2 were set to Developmental and epileptic encephalopathy
Penetrance for gene: KCNT2 were set to Complete
Mode of pathogenicity for gene: KCNT2 was set to Other
Review for gene: KCNT2 was set to GREEN
Added comment: A.


Ambrosino et al described 2 unrelated females with de novo variants in KCNT2. The first patient had the variant p.(Arg190His) had with West syndrome followed by Lennox-Gastaut syndrome , the second patient had the variant p.(Arg190Pro) and DEE with migrating focal seizures. Both variants were absent gnomad and had supportive in silico support for pathogenicity. In an electrophisological model both KCNT2 R190P and KCNT2 R190H increased maximal current density and shifted toward more negative membrane potential values the activation curve of KCNT2 channels, consistent with gain of function effects. PMID: 29740868.

Gururaj et al describe one male with de novo variant in KCNT2 p. (Phe240Leu) and early infantile epileptic encephalopathy. he variant was absent gnomad and supportive evidence of pathogenicity This variant was electrophysiologically modelled and revealed that the variant resulted in a 'change in function' demonstrating unusual altered selectivity in KNa channels.PMID: 29069600.
Sources: Literature
Genetic Epilepsy v0.46 ATP1A1 Zornitza Stark Marked gene: ATP1A1 as ready
Genetic Epilepsy v0.46 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.46 ATP1A1 Zornitza Stark Classified gene: ATP1A1 as Green List (high evidence)
Genetic Epilepsy v0.46 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.45 ATP1A1 Zornitza Stark gene: ATP1A1 was added
gene: ATP1A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Intellectual disability; seizures; hypomagnesaemia
Review for gene: ATP1A1 was set to GREEN
Added comment: Three infants with de novo missense variants in this gene; seizures persisted despite correction of magnesium, intellectual disability is part of the phenotype. Note gene is also linked to CMT and possibly HSP.
Sources: Literature
Genetic Epilepsy v0.44 ANKRD17 Zornitza Stark Marked gene: ANKRD17 as ready
Genetic Epilepsy v0.44 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.44 ANKRD17 Zornitza Stark Phenotypes for gene: ANKRD17 were changed from to Intellectual disability; dysmorphic features
Genetic Epilepsy v0.43 ANKRD17 Zornitza Stark Mode of inheritance for gene: ANKRD17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.42 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Amber List (moderate evidence)
Genetic Epilepsy v0.42 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.41 ANKRD17 Zornitza Stark reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.41 CSNK1E Zornitza Stark Marked gene: CSNK1E as ready
Genetic Epilepsy v0.41 CSNK1E Zornitza Stark Gene: csnk1e has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.41 CSNK1E Zornitza Stark gene: CSNK1E was added
gene: CSNK1E was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: CSNK1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK1E were set to 30488659
Phenotypes for gene: CSNK1E were set to Epileptic encephalopathy
Review for gene: CSNK1E was set to RED
Added comment: De novo splicing variant reported but in conjunction with STXBP1 variants; authors postulate it may contribute to susceptibility. Also reports linking variants in this gene to psychiatric disorders.
Sources: Literature
Genetic Epilepsy v0.40 SCAMP5 Zornitza Stark Marked gene: SCAMP5 as ready
Genetic Epilepsy v0.40 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.40 SCAMP5 Zornitza Stark Classified gene: SCAMP5 as Green List (high evidence)
Genetic Epilepsy v0.40 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.39 SCAMP5 Zornitza Stark gene: SCAMP5 was added
gene: SCAMP5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAMP5 were set to 31439720
Phenotypes for gene: SCAMP5 were set to Intellectual disability; seizures; autism
Added comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect.
Sources: Literature
Genetic Epilepsy v0.38 PIGU Zornitza Stark Marked gene: PIGU as ready
Genetic Epilepsy v0.38 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Genetic Epilepsy v0.38 PIGU Zornitza Stark Classified gene: PIGU as Green List (high evidence)
Genetic Epilepsy v0.38 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Genetic Epilepsy v0.37 PIGU Zornitza Stark gene: PIGU was added
gene: PIGU was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGU were set to 31353022
Phenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590
Review for gene: PIGU was set to GREEN
Added comment: 5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface.
Sources: Literature
Genetic Epilepsy v0.36 PIGB Zornitza Stark Marked gene: PIGB as ready
Genetic Epilepsy v0.36 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.36 PIGB Zornitza Stark Classified gene: PIGB as Green List (high evidence)
Genetic Epilepsy v0.36 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.35 PIGB Zornitza Stark gene: PIGB was added
gene: PIGB was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Literature
Genetic Epilepsy v0.34 GRIA2 Zornitza Stark Marked gene: GRIA2 as ready
Genetic Epilepsy v0.34 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.34 GRIA2 Zornitza Stark Classified gene: GRIA2 as Green List (high evidence)
Genetic Epilepsy v0.34 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.33 GRIA2 Zornitza Stark gene: GRIA2 was added
gene: GRIA2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA2 were set to 31300657
Phenotypes for gene: GRIA2 were set to Intellectual disability; autism; Rett-like features; epileptic encephalopathy
Review for gene: GRIA2 was set to GREEN
Added comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification.
Sources: Literature
Genetic Epilepsy v0.32 GABRA5 Zornitza Stark Marked gene: GABRA5 as ready
Genetic Epilepsy v0.32 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.32 GABRA5 Zornitza Stark Classified gene: GABRA5 as Green List (high evidence)
Genetic Epilepsy v0.32 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.31 GABRA5 Zornitza Stark gene: GABRA5 was added
gene: GABRA5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA5 were set to 31056671; 29961870
Phenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559
Review for gene: GABRA5 was set to GREEN
Added comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current.
Sources: Literature
Genetic Epilepsy v0.30 CYFIP2 Zornitza Stark Marked gene: CYFIP2 as ready
Genetic Epilepsy v0.30 CYFIP2 Zornitza Stark Gene: cyfip2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.30 CYFIP2 Zornitza Stark Phenotypes for gene: CYFIP2 were changed from to Epileptic encephalopathy, early infantile, 65, MIM#618008
Genetic Epilepsy v0.29 CYFIP2 Zornitza Stark Mode of inheritance for gene: CYFIP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.28 CYFIP2 Zornitza Stark Publications for gene: CYFIP2 were set to
Genetic Epilepsy v0.28 CYFIP2 Zornitza Stark Mode of inheritance for gene: CYFIP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.27 CYFIP2 Zornitza Stark reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534297; Phenotypes: Epileptic encephalopathy, early infantile, 65, MIM#618008; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.27 ATN1 Zornitza Stark Marked gene: ATN1 as ready
Genetic Epilepsy v0.27 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.27 ATN1 Zornitza Stark Classified gene: ATN1 as Green List (high evidence)
Genetic Epilepsy v0.27 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.26 ATN1 Zornitza Stark gene: ATN1 was added
gene: ATN1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 30827498
Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494
Review for gene: ATN1 was set to GREEN
Added comment: Eight unrelated individuals with de novo heterozygous variants in this gene and syndromic ID; all variants result in substitutions within the highly conserved 16-amino acid histidine-rich 'HX repeat' motif near the C terminus.
Sources: Literature
Genetic Epilepsy v0.25 APC2 Zornitza Stark Marked gene: APC2 as ready
Genetic Epilepsy v0.25 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.25 APC2 Zornitza Stark Classified gene: APC2 as Green List (high evidence)
Genetic Epilepsy v0.25 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.24 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Genetic Epilepsy v0.23 ACTL6B Zornitza Stark Marked gene: ACTL6B as ready
Genetic Epilepsy v0.23 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.23 ACTL6B Zornitza Stark Classified gene: ACTL6B as Green List (high evidence)
Genetic Epilepsy v0.23 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.22 ACTL6B Zornitza Stark gene: ACTL6B was added
gene: ACTL6B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31134736; 31031012; 30656450; 30237576
Phenotypes for gene: ACTL6B were set to Epileptic encephalopathy, early infantile, 76, MIM# 618468; Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Review for gene: ACTL6B was set to GREEN
Added comment: Multiple affected individuals reported, main phenotype is ID/EE.
Sources: Literature
Genetic Epilepsy v0.21 RHOBTB2 Zornitza Stark Marked gene: RHOBTB2 as ready
Genetic Epilepsy v0.21 RHOBTB2 Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.21 RHOBTB2 Zornitza Stark Phenotypes for gene: RHOBTB2 were changed from to Epileptic encephalopathy, early infantile, 64, MIM#618004
Genetic Epilepsy v0.20 RHOBTB2 Zornitza Stark Publications for gene: RHOBTB2 were set to
Genetic Epilepsy v0.19 RHOBTB2 Zornitza Stark Mode of inheritance for gene: RHOBTB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.18 RHOBTB2 Zornitza Stark reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29768694, 29276004; Phenotypes: Epileptic encephalopathy, early infantile, 64, MIM#618004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.18 NECAP1 Zornitza Stark Marked gene: NECAP1 as ready
Genetic Epilepsy v0.18 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.18 NECAP1 Zornitza Stark Classified gene: NECAP1 as Amber List (moderate evidence)
Genetic Epilepsy v0.18 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.17 NECAP1 Zornitza Stark gene: NECAP1 was added
gene: NECAP1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: NECAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NECAP1 were set to 24399846; 30626896; 30525121
Phenotypes for gene: NECAP1 were set to Epileptic encephalopathy, early infantile, 21, MIM#615833
Review for gene: NECAP1 was set to AMBER
Added comment: Three families, but two of these have the same founder variant; no functional data.
Sources: Literature
Genetic Epilepsy v0.16 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Genetic Epilepsy v0.16 EXT2 Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.16 EXT2 Zornitza Stark Classified gene: EXT2 as Green List (high evidence)
Genetic Epilepsy v0.16 EXT2 Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.15 EXT2 Zornitza Stark gene: EXT2 was added
gene: EXT2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert Review
Mode of inheritance for gene: EXT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXT2 were set to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682
Review for gene: EXT2 was set to GREEN
Added comment: Bi-alllelic missense variants cause a syndromic ID condition, seizures are a prominent feature. Note heterozygous variants (mostly causing premature termination) cause multiple exostoses.
Sources: Expert Review
Genetic Epilepsy v0.14 CPA6 Zornitza Stark Marked gene: CPA6 as ready
Genetic Epilepsy v0.14 CPA6 Zornitza Stark Gene: cpa6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.14 CPA6 Zornitza Stark Phenotypes for gene: CPA6 were changed from to Epilepsy, familial temporal lobe, 5, MIM#614417; Febrile seizures, familial, 11, MIM#614418
Genetic Epilepsy v0.13 CPA6 Zornitza Stark Publications for gene: CPA6 were set to
Genetic Epilepsy v0.12 CPA6 Zornitza Stark Mode of inheritance for gene: CPA6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.11 CPA6 Zornitza Stark reviewed gene: CPA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25875328, 21922598, 23105115; Phenotypes: Epilepsy, familial temporal lobe, 5, MIM#614417, Febrile seizures, familial, 11, MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.11 CACNA1G Zornitza Stark Marked gene: CACNA1G as ready
Genetic Epilepsy v0.11 CACNA1G Zornitza Stark Added comment: Comment when marking as ready: 2/4 reported patients had epilepsy.
Genetic Epilepsy v0.11 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Genetic Epilepsy v0.11 CACNA1G Zornitza Stark Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087
Genetic Epilepsy v0.10 CACNA1G Zornitza Stark Publications for gene: CACNA1G were set to
Genetic Epilepsy v0.9 CACNA1G Zornitza Stark Mode of inheritance for gene: CACNA1G was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.7 CACNA1E Zornitza Stark Marked gene: CACNA1E as ready
Genetic Epilepsy v0.7 CACNA1E Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence).
Genetic Epilepsy v0.7 CACNA1E Zornitza Stark Phenotypes for gene: CACNA1E were changed from to Epileptic encephalopathy, early infantile, 69, MIM#618285
Genetic Epilepsy v0.6 CACNA1E Zornitza Stark Publications for gene: CACNA1E were set to
Genetic Epilepsy v0.5 CACNA1E Zornitza Stark Mode of inheritance for gene: CACNA1E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1 HCN2 Zornitza Stark Marked gene: HCN2 as ready
Genetic Epilepsy v0.1 HCN2 Zornitza Stark Gene: hcn2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1 HCN2 Zornitza Stark Classified gene: HCN2 as Amber List (moderate evidence)
Genetic Epilepsy v0.1 HCN2 Zornitza Stark Gene: hcn2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.0 HCN2 Zornitza Stark reviewed gene: HCN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22131395, 30986657; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.0 ZEB2 Zornitza Stark gene: ZEB2 was added
gene: ZEB2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZEB2 was set to Unknown
Genetic Epilepsy v0.0 ZBTB18 Zornitza Stark gene: ZBTB18 was added
gene: ZBTB18 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZBTB18 was set to Unknown
Genetic Epilepsy v0.0 YWHAG Zornitza Stark gene: YWHAG was added
gene: YWHAG was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: YWHAG was set to Unknown
Genetic Epilepsy v0.0 WWOX Zornitza Stark gene: WWOX was added
gene: WWOX was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WWOX was set to Unknown
Genetic Epilepsy v0.0 WDR73 Zornitza Stark gene: WDR73 was added
gene: WDR73 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR73 was set to Unknown
Genetic Epilepsy v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR62 was set to Unknown
Genetic Epilepsy v0.0 WDR45B Zornitza Stark gene: WDR45B was added
gene: WDR45B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR45B was set to Unknown
Genetic Epilepsy v0.0 WDR45 Zornitza Stark gene: WDR45 was added
gene: WDR45 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR45 was set to Unknown
Genetic Epilepsy v0.0 WDR37 Zornitza Stark gene: WDR37 was added
gene: WDR37 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR37 was set to Unknown
Genetic Epilepsy v0.0 WASF1 Zornitza Stark gene: WASF1 was added
gene: WASF1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WASF1 was set to Unknown
Genetic Epilepsy v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VLDLR was set to Unknown
Genetic Epilepsy v0.0 VARS Zornitza Stark gene: VARS was added
gene: VARS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VARS was set to Unknown
Genetic Epilepsy v0.0 UNC80 Zornitza Stark gene: UNC80 was added
gene: UNC80 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC80 was set to Unknown
Genetic Epilepsy v0.0 UFM1 Zornitza Stark gene: UFM1 was added
gene: UFM1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UFM1 was set to Unknown
Genetic Epilepsy v0.0 UBE3A Zornitza Stark gene: UBE3A was added
gene: UBE3A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBE3A was set to Unknown
Genetic Epilepsy v0.0 UBE2A Zornitza Stark gene: UBE2A was added
gene: UBE2A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBE2A was set to Unknown
Genetic Epilepsy v0.0 UBA5 Zornitza Stark gene: UBA5 was added
gene: UBA5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBA5 was set to Unknown
Genetic Epilepsy v0.0 TUBG1 Zornitza Stark gene: TUBG1 was added
gene: TUBG1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBG1 was set to Unknown
Genetic Epilepsy v0.0 TUBB4A Zornitza Stark gene: TUBB4A was added
gene: TUBB4A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB4A was set to Unknown
Genetic Epilepsy v0.0 TUBB3 Zornitza Stark gene: TUBB3 was added
gene: TUBB3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB3 was set to Unknown
Genetic Epilepsy v0.0 TUBB2B Zornitza Stark gene: TUBB2B was added
gene: TUBB2B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB2B was set to Unknown
Genetic Epilepsy v0.0 TUBB Zornitza Stark gene: TUBB was added
gene: TUBB was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB was set to Unknown
Genetic Epilepsy v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBA8 was set to Unknown
Genetic Epilepsy v0.0 TUBA1A Zornitza Stark gene: TUBA1A was added
gene: TUBA1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBA1A was set to Unknown
Genetic Epilepsy v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSFM was set to Unknown
Genetic Epilepsy v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN54 was set to Unknown
Genetic Epilepsy v0.0 TSEN2 Zornitza Stark gene: TSEN2 was added
gene: TSEN2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN2 was set to Unknown
Genetic Epilepsy v0.0 TSC2 Zornitza Stark gene: TSC2 was added
gene: TSC2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSC2 was set to Unknown
Genetic Epilepsy v0.0 TSC1 Zornitza Stark gene: TSC1 was added
gene: TSC1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSC1 was set to Unknown
Genetic Epilepsy v0.0 TRRAP Zornitza Stark gene: TRRAP was added
gene: TRRAP was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRRAP was set to Unknown
Genetic Epilepsy v0.0 TRIP13 Zornitza Stark gene: TRIP13 was added
gene: TRIP13 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIP13 was set to Unknown
Genetic Epilepsy v0.0 TRIM8 Zornitza Stark gene: TRIM8 was added
gene: TRIM8 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIM8 was set to Unknown
Genetic Epilepsy v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TREX1 was set to Unknown
Genetic Epilepsy v0.0 TRAPPC6B Zornitza Stark gene: TRAPPC6B was added
gene: TRAPPC6B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC6B was set to Unknown
Genetic Epilepsy v0.0 TRAPPC12 Zornitza Stark gene: TRAPPC12 was added
gene: TRAPPC12 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC12 was set to Unknown
Genetic Epilepsy v0.0 TRAK1 Zornitza Stark gene: TRAK1 was added
gene: TRAK1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAK1 was set to Unknown
Genetic Epilepsy v0.0 TRAF7 Zornitza Stark gene: TRAF7 was added
gene: TRAF7 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAF7 was set to Unknown
Genetic Epilepsy v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPP1 was set to Unknown
Genetic Epilepsy v0.0 TNK2 Zornitza Stark gene: TNK2 was added
gene: TNK2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNK2 was set to Unknown
Genetic Epilepsy v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM70 was set to Unknown
Genetic Epilepsy v0.0 TIMM50 Zornitza Stark gene: TIMM50 was added
gene: TIMM50 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TIMM50 was set to Unknown
Genetic Epilepsy v0.0 TCF4 Zornitza Stark gene: TCF4 was added
gene: TCF4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCF4 was set to Unknown
Genetic Epilepsy v0.0 TBL1XR1 Zornitza Stark gene: TBL1XR1 was added
gene: TBL1XR1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBL1XR1 was set to Unknown
Genetic Epilepsy v0.0 TBCK Zornitza Stark gene: TBCK was added
gene: TBCK was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBCK was set to Unknown
Genetic Epilepsy v0.0 TBCD Zornitza Stark gene: TBCD was added
gene: TBCD was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBCD was set to Unknown
Genetic Epilepsy v0.0 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D24 was set to Unknown
Genetic Epilepsy v0.0 TBC1D20 Zornitza Stark gene: TBC1D20 was added
gene: TBC1D20 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D20 was set to Unknown
Genetic Epilepsy v0.0 SZT2 Zornitza Stark gene: SZT2 was added
gene: SZT2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SZT2 was set to Unknown
Genetic Epilepsy v0.0 SYNJ1 Zornitza Stark gene: SYNJ1 was added
gene: SYNJ1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYNJ1 was set to Unknown
Genetic Epilepsy v0.0 SYNGAP1 Zornitza Stark gene: SYNGAP1 was added
gene: SYNGAP1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYNGAP1 was set to Unknown
Genetic Epilepsy v0.0 SYN1 Zornitza Stark gene: SYN1 was added
gene: SYN1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYN1 was set to Unknown
Genetic Epilepsy v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SURF1 was set to Unknown
Genetic Epilepsy v0.0 SUOX Zornitza Stark gene: SUOX was added
gene: SUOX was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SUOX was set to Unknown
Genetic Epilepsy v0.0 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SUCLG1 was set to Unknown
Genetic Epilepsy v0.0 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SUCLA2 was set to Unknown
Genetic Epilepsy v0.0 STXBP1 Zornitza Stark gene: STXBP1 was added
gene: STXBP1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STXBP1 was set to Unknown
Genetic Epilepsy v0.0 STX1B Zornitza Stark gene: STX1B was added
gene: STX1B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STX1B was set to Unknown
Genetic Epilepsy v0.0 STRADA Zornitza Stark gene: STRADA was added
gene: STRADA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STRADA was set to Unknown
Genetic Epilepsy v0.0 STAMBP Zornitza Stark gene: STAMBP was added
gene: STAMBP was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAMBP was set to Unknown
Genetic Epilepsy v0.0 STAG1 Zornitza Stark gene: STAG1 was added
gene: STAG1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAG1 was set to Unknown
Genetic Epilepsy v0.0 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ST3GAL5 was set to Unknown
Genetic Epilepsy v0.0 ST3GAL3 Zornitza Stark gene: ST3GAL3 was added
gene: ST3GAL3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ST3GAL3 was set to Unknown
Genetic Epilepsy v0.0 SPTAN1 Zornitza Stark gene: SPTAN1 was added
gene: SPTAN1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPTAN1 was set to Unknown
Genetic Epilepsy v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPR was set to Unknown
Genetic Epilepsy v0.0 SNORD118 Zornitza Stark gene: SNORD118 was added
gene: SNORD118 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SNORD118 was set to Unknown
Genetic Epilepsy v0.0 SNAP25 Zornitza Stark gene: SNAP25 was added
gene: SNAP25 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SNAP25 was set to Unknown
Genetic Epilepsy v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMC1A was set to Unknown
Genetic Epilepsy v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC9A6 was set to Unknown
Genetic Epilepsy v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A8 was set to Unknown
Genetic Epilepsy v0.0 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A19 was set to Unknown
Genetic Epilepsy v0.0 SLC6A1 Zornitza Stark gene: SLC6A1 was added
gene: SLC6A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A1 was set to Unknown
Genetic Epilepsy v0.0 SLC45A1 Zornitza Stark gene: SLC45A1 was added
gene: SLC45A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC45A1 was set to Unknown
Genetic Epilepsy v0.0 SLC35A2 Zornitza Stark gene: SLC35A2 was added
gene: SLC35A2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC35A2 was set to Unknown
Genetic Epilepsy v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC2A1 was set to Unknown
Genetic Epilepsy v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A22 was set to Unknown
Genetic Epilepsy v0.0 SLC25A12 Zornitza Stark gene: SLC25A12 was added
gene: SLC25A12 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A12 was set to Unknown
Genetic Epilepsy v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A1 was set to Unknown
Genetic Epilepsy v0.0 SLC1A2 Zornitza Stark gene: SLC1A2 was added
gene: SLC1A2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC1A2 was set to Unknown
Genetic Epilepsy v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC16A2 was set to Unknown
Genetic Epilepsy v0.0 SLC13A5 Zornitza Stark gene: SLC13A5 was added
gene: SLC13A5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC13A5 was set to Unknown
Genetic Epilepsy v0.0 SLC12A5 Zornitza Stark gene: SLC12A5 was added
gene: SLC12A5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC12A5 was set to Unknown
Genetic Epilepsy v0.0 SIX3 Zornitza Stark gene: SIX3 was added
gene: SIX3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX3 was set to Unknown
Genetic Epilepsy v0.0 SIK1 Zornitza Stark gene: SIK1 was added
gene: SIK1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIK1 was set to Unknown
Genetic Epilepsy v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SHH was set to Unknown
Genetic Epilepsy v0.0 SETD5 Zornitza Stark gene: SETD5 was added
gene: SETD5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SETD5 was set to Unknown
Genetic Epilepsy v0.0 SETD1B Zornitza Stark gene: SETD1B was added
gene: SETD1B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SETD1B was set to Unknown
Genetic Epilepsy v0.0 SETBP1 Zornitza Stark gene: SETBP1 was added
gene: SETBP1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SETBP1 was set to Unknown
Genetic Epilepsy v0.0 SEPSECS Zornitza Stark gene: SEPSECS was added
gene: SEPSECS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEPSECS was set to Unknown
Genetic Epilepsy v0.0 SDHA Zornitza Stark gene: SDHA was added
gene: SDHA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDHA was set to Unknown
Genetic Epilepsy v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCO2 was set to Unknown
Genetic Epilepsy v0.0 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCO1 was set to Unknown
Genetic Epilepsy v0.0 SCN9A Zornitza Stark gene: SCN9A was added
gene: SCN9A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCN9A was set to Unknown
Genetic Epilepsy v0.0 SCN8A Zornitza Stark gene: SCN8A was added
gene: SCN8A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCN8A was set to Unknown
Genetic Epilepsy v0.0 SCN3A Zornitza Stark gene: SCN3A was added
gene: SCN3A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCN3A was set to Unknown
Genetic Epilepsy v0.0 SCN2A Zornitza Stark gene: SCN2A was added
gene: SCN2A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCN2A was set to Unknown
Genetic Epilepsy v0.0 SCN1B Zornitza Stark gene: SCN1B was added
gene: SCN1B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCN1B was set to Unknown
Genetic Epilepsy v0.0 SCN1A Zornitza Stark gene: SCN1A was added
gene: SCN1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCN1A was set to Unknown
Genetic Epilepsy v0.0 SCARB2 Zornitza Stark gene: SCARB2 was added
gene: SCARB2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCARB2 was set to Unknown
Genetic Epilepsy v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SAMHD1 was set to Unknown
Genetic Epilepsy v0.0 RUSC2 Zornitza Stark gene: RUSC2 was added
gene: RUSC2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RUSC2 was set to Unknown
Genetic Epilepsy v0.0 RTTN Zornitza Stark gene: RTTN was added
gene: RTTN was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RTTN was set to Unknown
Genetic Epilepsy v0.0 RTN4IP1 Zornitza Stark gene: RTN4IP1 was added
gene: RTN4IP1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RTN4IP1 was set to Unknown
Genetic Epilepsy v0.0 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RRM2B was set to Unknown
Genetic Epilepsy v0.0 RORB Zornitza Stark gene: RORB was added
gene: RORB was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RORB was set to Unknown
Genetic Epilepsy v0.0 RORA Zornitza Stark gene: RORA was added
gene: RORA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RORA was set to Unknown
Genetic Epilepsy v0.0 ROGDI Zornitza Stark gene: ROGDI was added
gene: ROGDI was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ROGDI was set to Unknown
Genetic Epilepsy v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNU4ATAC was set to Unknown
Genetic Epilepsy v0.0 RNASET2 Zornitza Stark gene: RNASET2 was added
gene: RNASET2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASET2 was set to Unknown
Genetic Epilepsy v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASEH2C was set to Unknown
Genetic Epilepsy v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASEH2B was set to Unknown
Genetic Epilepsy v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASEH2A was set to Unknown
Genetic Epilepsy v0.0 RMND1 Zornitza Stark gene: RMND1 was added
gene: RMND1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RMND1 was set to Unknown
Genetic Epilepsy v0.0 RHOBTB2 Zornitza Stark gene: RHOBTB2 was added
gene: RHOBTB2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RHOBTB2 was set to Unknown
Genetic Epilepsy v0.0 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RFT1 was set to Unknown
Genetic Epilepsy v0.0 RELN Zornitza Stark gene: RELN was added
gene: RELN was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RELN was set to Unknown
Genetic Epilepsy v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RARS2 was set to Unknown
Genetic Epilepsy v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB3GAP2 was set to Unknown
Genetic Epilepsy v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB3GAP1 was set to Unknown
Genetic Epilepsy v0.0 RAB18 Zornitza Stark gene: RAB18 was added
gene: RAB18 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB18 was set to Unknown
Genetic Epilepsy v0.0 RAB11B Zornitza Stark gene: RAB11B was added
gene: RAB11B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB11B was set to Unknown
Genetic Epilepsy v0.0 QDPR Zornitza Stark gene: QDPR was added
gene: QDPR was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: QDPR was set to Unknown
Genetic Epilepsy v0.0 QARS Zornitza Stark gene: QARS was added
gene: QARS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: QARS was set to Unknown
Genetic Epilepsy v0.0 PURA Zornitza Stark gene: PURA was added
gene: PURA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PURA was set to Unknown
Genetic Epilepsy v0.0 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTS was set to Unknown
Genetic Epilepsy v0.0 PTPN23 Zornitza Stark gene: PTPN23 was added
gene: PTPN23 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTPN23 was set to Unknown
Genetic Epilepsy v0.0 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTF1A was set to Unknown
Genetic Epilepsy v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTEN was set to Unknown
Genetic Epilepsy v0.0 PSPH Zornitza Stark gene: PSPH was added
gene: PSPH was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PSPH was set to Unknown
Genetic Epilepsy v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PSAT1 was set to Unknown
Genetic Epilepsy v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PSAP was set to Unknown
Genetic Epilepsy v0.0 PRRT2 Zornitza Stark gene: PRRT2 was added
gene: PRRT2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRRT2 was set to Unknown
Genetic Epilepsy v0.0 PRODH Zornitza Stark gene: PRODH was added
gene: PRODH was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRODH was set to Unknown
Genetic Epilepsy v0.0 PRMT7 Zornitza Stark gene: PRMT7 was added
gene: PRMT7 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRMT7 was set to Unknown
Genetic Epilepsy v0.0 PRICKLE1 Zornitza Stark gene: PRICKLE1 was added
gene: PRICKLE1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRICKLE1 was set to Unknown
Genetic Epilepsy v0.0 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPT1 was set to Unknown
Genetic Epilepsy v0.0 PPP3CA Zornitza Stark gene: PPP3CA was added
gene: PPP3CA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPP3CA was set to Unknown
Genetic Epilepsy v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT2 was set to Unknown
Genetic Epilepsy v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT1 was set to Unknown
Genetic Epilepsy v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMGNT1 was set to Unknown
Genetic Epilepsy v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLG was set to Unknown
Genetic Epilepsy v0.0 PNPO Zornitza Stark gene: PNPO was added
gene: PNPO was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PNPO was set to Unknown
Genetic Epilepsy v0.0 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PNKP was set to Unknown
Genetic Epilepsy v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PMM2 was set to Unknown
Genetic Epilepsy v0.0 PLPBP Zornitza Stark gene: PLPBP was added
gene: PLPBP was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLPBP was set to Unknown
Genetic Epilepsy v0.0 PLCB1 Zornitza Stark gene: PLCB1 was added
gene: PLCB1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLCB1 was set to Unknown
Genetic Epilepsy v0.0 PLAA Zornitza Stark gene: PLAA was added
gene: PLAA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLAA was set to Unknown
Genetic Epilepsy v0.0 PIK3R2 Zornitza Stark gene: PIK3R2 was added
gene: PIK3R2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIK3R2 was set to Unknown
Genetic Epilepsy v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIK3CA was set to Unknown
Genetic Epilepsy v0.0 PIGW Zornitza Stark gene: PIGW was added
gene: PIGW was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGW was set to Unknown
Genetic Epilepsy v0.0 PIGT Zornitza Stark gene: PIGT was added
gene: PIGT was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGT was set to Unknown
Genetic Epilepsy v0.0 PIGO Zornitza Stark gene: PIGO was added
gene: PIGO was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGO was set to Unknown
Genetic Epilepsy v0.0 PIGN Zornitza Stark gene: PIGN was added
gene: PIGN was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGN was set to Unknown
Genetic Epilepsy v0.0 PIGH Zornitza Stark gene: PIGH was added
gene: PIGH was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGH was set to Unknown
Genetic Epilepsy v0.0 PIGG Zornitza Stark gene: PIGG was added
gene: PIGG was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGG was set to Unknown
Genetic Epilepsy v0.0 PIGC Zornitza Stark gene: PIGC was added
gene: PIGC was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGC was set to Unknown
Genetic Epilepsy v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGA was set to Unknown
Genetic Epilepsy v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PHGDH was set to Unknown
Genetic Epilepsy v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX7 was set to Unknown
Genetic Epilepsy v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX6 was set to Unknown
Genetic Epilepsy v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX5 was set to Unknown
Genetic Epilepsy v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX3 was set to Unknown
Genetic Epilepsy v0.0 PEX19 Zornitza Stark gene: PEX19 was added
gene: PEX19 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX19 was set to Unknown
Genetic Epilepsy v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX12 was set to Unknown
Genetic Epilepsy v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX1 was set to Unknown
Genetic Epilepsy v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PET100 was set to Unknown
Genetic Epilepsy v0.0 PDSS2 Zornitza Stark gene: PDSS2 was added
gene: PDSS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDSS2 was set to Unknown
Genetic Epilepsy v0.0 PDHX Zornitza Stark gene: PDHX was added
gene: PDHX was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDHX was set to Unknown
Genetic Epilepsy v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDHA1 was set to Unknown
Genetic Epilepsy v0.0 PCDH19 Zornitza Stark gene: PCDH19 was added
gene: PCDH19 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCDH19 was set to Unknown
Genetic Epilepsy v0.0 PCDH12 Zornitza Stark gene: PCDH12 was added
gene: PCDH12 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCDH12 was set to Unknown
Genetic Epilepsy v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCCB was set to Unknown
Genetic Epilepsy v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCCA was set to Unknown
Genetic Epilepsy v0.0 PAH Zornitza Stark gene: PAH was added
gene: PAH was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAH was set to Unknown
Genetic Epilepsy v0.0 PAFAH1B1 Zornitza Stark gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAFAH1B1 was set to Unknown
Genetic Epilepsy v0.0 PACS2 Zornitza Stark gene: PACS2 was added
gene: PACS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PACS2 was set to Unknown
Genetic Epilepsy v0.0 PACS1 Zornitza Stark gene: PACS1 was added
gene: PACS1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PACS1 was set to Unknown
Genetic Epilepsy v0.0 OTX2 Zornitza Stark gene: OTX2 was added
gene: OTX2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OTX2 was set to Unknown
Genetic Epilepsy v0.0 OTUD6B Zornitza Stark gene: OTUD6B was added
gene: OTUD6B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OTUD6B was set to Unknown
Genetic Epilepsy v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OPHN1 was set to Unknown
Genetic Epilepsy v0.0 OCLN Zornitza Stark gene: OCLN was added
gene: OCLN was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OCLN was set to Unknown
Genetic Epilepsy v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NUBPL was set to Unknown
Genetic Epilepsy v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NSDHL was set to Unknown
Genetic Epilepsy v0.0 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NSD1 was set to Unknown
Genetic Epilepsy v0.0 NRXN1 Zornitza Stark gene: NRXN1 was added
gene: NRXN1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NRXN1 was set to Unknown
Genetic Epilepsy v0.0 NPRL3 Zornitza Stark gene: NPRL3 was added
gene: NPRL3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPRL3 was set to Unknown
Genetic Epilepsy v0.0 NPRL2 Zornitza Stark gene: NPRL2 was added
gene: NPRL2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPRL2 was set to Unknown
Genetic Epilepsy v0.0 NHLRC1 Zornitza Stark gene: NHLRC1 was added
gene: NHLRC1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NHLRC1 was set to Unknown
Genetic Epilepsy v0.0 NGLY1 Zornitza Stark gene: NGLY1 was added
gene: NGLY1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NGLY1 was set to Unknown
Genetic Epilepsy v0.0 NEXMIF Zornitza Stark gene: NEXMIF was added
gene: NEXMIF was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NEXMIF was set to Unknown
Genetic Epilepsy v0.0 NEDD4L Zornitza Stark gene: NEDD4L was added
gene: NEDD4L was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NEDD4L was set to Unknown
Genetic Epilepsy v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFV1 was set to Unknown
Genetic Epilepsy v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS8 was set to Unknown
Genetic Epilepsy v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS7 was set to Unknown
Genetic Epilepsy v0.0 NDUFS6 Zornitza Stark gene: NDUFS6 was added
gene: NDUFS6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS6 was set to Unknown
Genetic Epilepsy v0.0 NDUFS4 Zornitza Stark gene: NDUFS4 was added
gene: NDUFS4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS4 was set to Unknown
Genetic Epilepsy v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS2 was set to Unknown
Genetic Epilepsy v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS1 was set to Unknown
Genetic Epilepsy v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF5 was set to Unknown
Genetic Epilepsy v0.0 NDUFAF4 Zornitza Stark gene: NDUFAF4 was added
gene: NDUFAF4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF4 was set to Unknown
Genetic Epilepsy v0.0 NDUFAF3 Zornitza Stark gene: NDUFAF3 was added
gene: NDUFAF3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF3 was set to Unknown
Genetic Epilepsy v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF2 was set to Unknown
Genetic Epilepsy v0.0 NDUFA6 Zornitza Stark gene: NDUFA6 was added
gene: NDUFA6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA6 was set to Unknown
Genetic Epilepsy v0.0 NDUFA2 Zornitza Stark gene: NDUFA2 was added
gene: NDUFA2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA2 was set to Unknown
Genetic Epilepsy v0.0 NDUFA11 Zornitza Stark gene: NDUFA11 was added
gene: NDUFA11 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA11 was set to Unknown
Genetic Epilepsy v0.0 NDUFA10 Zornitza Stark gene: NDUFA10 was added
gene: NDUFA10 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA10 was set to Unknown
Genetic Epilepsy v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA1 was set to Unknown
Genetic Epilepsy v0.0 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDP was set to Unknown
Genetic Epilepsy v0.0 NDE1 Zornitza Stark gene: NDE1 was added
gene: NDE1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDE1 was set to Unknown
Genetic Epilepsy v0.0 NARS2 Zornitza Stark gene: NARS2 was added
gene: NARS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NARS2 was set to Unknown
Genetic Epilepsy v0.0 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NAGA was set to Unknown
Genetic Epilepsy v0.0 NACC1 Zornitza Stark gene: NACC1 was added
gene: NACC1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NACC1 was set to Unknown
Genetic Epilepsy v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NAA10 was set to Unknown
Genetic Epilepsy v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTR was set to Unknown
Genetic Epilepsy v0.0 MTOR Zornitza Stark gene: MTOR was added
gene: MTOR was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTOR was set to Unknown
Genetic Epilepsy v0.0 MTHFR Zornitza Stark gene: MTHFR was added
gene: MTHFR was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTHFR was set to Unknown
Genetic Epilepsy v0.0 MPDU1 Zornitza Stark gene: MPDU1 was added
gene: MPDU1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MPDU1 was set to Unknown
Genetic Epilepsy v0.0 MOGS Zornitza Stark gene: MOGS was added
gene: MOGS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MOGS was set to Unknown
Genetic Epilepsy v0.0 MOCS2 Zornitza Stark gene: MOCS2 was added
gene: MOCS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MOCS2 was set to Unknown
Genetic Epilepsy v0.0 MOCS1 Zornitza Stark gene: MOCS1 was added
gene: MOCS1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MOCS1 was set to Unknown
Genetic Epilepsy v0.0 MMADHC Zornitza Stark gene: MMADHC was added
gene: MMADHC was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MMADHC was set to Unknown
Genetic Epilepsy v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MMACHC was set to Unknown
Genetic Epilepsy v0.0 MLC1 Zornitza Stark gene: MLC1 was added
gene: MLC1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MLC1 was set to Unknown
Genetic Epilepsy v0.0 MFF Zornitza Stark gene: MFF was added
gene: MFF was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MFF was set to Unknown
Genetic Epilepsy v0.0 MEF2C Zornitza Stark gene: MEF2C was added
gene: MEF2C was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MEF2C was set to Unknown
Genetic Epilepsy v0.0 MED17 Zornitza Stark gene: MED17 was added
gene: MED17 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MED17 was set to Unknown
Genetic Epilepsy v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MED12 was set to Unknown
Genetic Epilepsy v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MECP2 was set to Unknown
Genetic Epilepsy v0.0 MDH2 Zornitza Stark gene: MDH2 was added
gene: MDH2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MDH2 was set to Unknown
Genetic Epilepsy v0.0 MBOAT7 Zornitza Stark gene: MBOAT7 was added
gene: MBOAT7 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MBOAT7 was set to Unknown
Genetic Epilepsy v0.0 MBD5 Zornitza Stark gene: MBD5 was added
gene: MBD5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MBD5 was set to Unknown
Genetic Epilepsy v0.0 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAP2K2 was set to Unknown
Genetic Epilepsy v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAP2K1 was set to Unknown
Genetic Epilepsy v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MANBA was set to Unknown
Genetic Epilepsy v0.0 MAF Zornitza Stark gene: MAF was added
gene: MAF was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAF was set to Unknown
Genetic Epilepsy v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LYST was set to Unknown
Genetic Epilepsy v0.0 LNPK Zornitza Stark gene: LNPK was added
gene: LNPK was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LNPK was set to Unknown
Genetic Epilepsy v0.0 LNP1 Zornitza Stark gene: LNP1 was added
gene: LNP1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LNP1 was set to Unknown
Genetic Epilepsy v0.0 LIPT2 Zornitza Stark gene: LIPT2 was added
gene: LIPT2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIPT2 was set to Unknown
Genetic Epilepsy v0.0 LIAS Zornitza Stark gene: LIAS was added
gene: LIAS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIAS was set to Unknown
Genetic Epilepsy v0.0 LGI1 Zornitza Stark gene: LGI1 was added
gene: LGI1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LGI1 was set to Unknown
Genetic Epilepsy v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LARGE1 was set to Unknown
Genetic Epilepsy v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRAS was set to Unknown
Genetic Epilepsy v0.0 KPTN Zornitza Stark gene: KPTN was added
gene: KPTN was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KPTN was set to Unknown
Genetic Epilepsy v0.0 KIF5C Zornitza Stark gene: KIF5C was added
gene: KIF5C was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF5C was set to Unknown
Genetic Epilepsy v0.0 KIF2A Zornitza Stark gene: KIF2A was added
gene: KIF2A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF2A was set to Unknown
Genetic Epilepsy v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF1BP was set to Unknown
Genetic Epilepsy v0.0 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF1A was set to Unknown
Genetic Epilepsy v0.0 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIAA1109 was set to Unknown
Genetic Epilepsy v0.0 KCTD7 Zornitza Stark gene: KCTD7 was added
gene: KCTD7 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCTD7 was set to Unknown
Genetic Epilepsy v0.0 KCTD3 Zornitza Stark gene: KCTD3 was added
gene: KCTD3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCTD3 was set to Unknown
Genetic Epilepsy v0.0 KCNT1 Zornitza Stark gene: KCNT1 was added
gene: KCNT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNT1 was set to Unknown
Genetic Epilepsy v0.0 KCNQ5 Zornitza Stark gene: KCNQ5 was added
gene: KCNQ5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNQ5 was set to Unknown
Genetic Epilepsy v0.0 KCNQ3 Zornitza Stark gene: KCNQ3 was added
gene: KCNQ3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNQ3 was set to Unknown
Genetic Epilepsy v0.0 KCNQ2 Zornitza Stark gene: KCNQ2 was added
gene: KCNQ2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNQ2 was set to Unknown
Genetic Epilepsy v0.0 KCNMA1 Zornitza Stark gene: KCNMA1 was added
gene: KCNMA1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNMA1 was set to Unknown
Genetic Epilepsy v0.0 KCNK4 Zornitza Stark gene: KCNK4 was added
gene: KCNK4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNK4 was set to Unknown
Genetic Epilepsy v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNJ11 was set to Unknown
Genetic Epilepsy v0.0 KCNJ10 Zornitza Stark gene: KCNJ10 was added
gene: KCNJ10 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNJ10 was set to Unknown
Genetic Epilepsy v0.0 KCNC1 Zornitza Stark gene: KCNC1 was added
gene: KCNC1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNC1 was set to Unknown
Genetic Epilepsy v0.0 KCNB1 Zornitza Stark gene: KCNB1 was added
gene: KCNB1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNB1 was set to Unknown
Genetic Epilepsy v0.0 KCNA2 Zornitza Stark gene: KCNA2 was added
gene: KCNA2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNA2 was set to Unknown
Genetic Epilepsy v0.0 KARS Zornitza Stark gene: KARS was added
gene: KARS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KARS was set to Unknown
Genetic Epilepsy v0.0 ITPA Zornitza Stark gene: ITPA was added
gene: ITPA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITPA was set to Unknown
Genetic Epilepsy v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ISPD was set to Unknown
Genetic Epilepsy v0.0 IRF2BPL Zornitza Stark gene: IRF2BPL was added
gene: IRF2BPL was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IRF2BPL was set to Unknown
Genetic Epilepsy v0.0 IQSEC2 Zornitza Stark gene: IQSEC2 was added
gene: IQSEC2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IQSEC2 was set to Unknown
Genetic Epilepsy v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IKBKG was set to Unknown
Genetic Epilepsy v0.0 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFIH1 was set to Unknown
Genetic Epilepsy v0.0 IER3IP1 Zornitza Stark gene: IER3IP1 was added
gene: IER3IP1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IER3IP1 was set to Unknown
Genetic Epilepsy v0.0 IDH2 Zornitza Stark gene: IDH2 was added
gene: IDH2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IDH2 was set to Unknown
Genetic Epilepsy v0.0 HTRA2 Zornitza Stark gene: HTRA2 was added
gene: HTRA2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HTRA2 was set to Unknown
Genetic Epilepsy v0.0 HSPD1 Zornitza Stark gene: HSPD1 was added
gene: HSPD1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSPD1 was set to Unknown
Genetic Epilepsy v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSD17B4 was set to Unknown
Genetic Epilepsy v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HRAS was set to Unknown
Genetic Epilepsy v0.0 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPRT1 was set to Unknown
Genetic Epilepsy v0.0 HOXA1 Zornitza Stark gene: HOXA1 was added
gene: HOXA1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXA1 was set to Unknown
Genetic Epilepsy v0.0 HNRNPU Zornitza Stark gene: HNRNPU was added
gene: HNRNPU was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HNRNPU was set to Unknown
Genetic Epilepsy v0.0 HNRNPH2 Zornitza Stark gene: HNRNPH2 was added
gene: HNRNPH2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HNRNPH2 was set to Unknown
Genetic Epilepsy v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HMGCL was set to Unknown
Genetic Epilepsy v0.0 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HLCS was set to Unknown
Genetic Epilepsy v0.0 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HEXB was set to Unknown
Genetic Epilepsy v0.0 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HEXA was set to Unknown
Genetic Epilepsy v0.0 HEPACAM Zornitza Stark gene: HEPACAM was added
gene: HEPACAM was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HEPACAM was set to Unknown
Genetic Epilepsy v0.0 HECW2 Zornitza Stark gene: HECW2 was added
gene: HECW2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HECW2 was set to Unknown
Genetic Epilepsy v0.0 HCN2 Zornitza Stark gene: HCN2 was added
gene: HCN2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HCN2 was set to Unknown
Genetic Epilepsy v0.0 HCN1 Zornitza Stark gene: HCN1 was added
gene: HCN1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HCN1 was set to Unknown
Genetic Epilepsy v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HCFC1 was set to Unknown
Genetic Epilepsy v0.0 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HCCS was set to Unknown
Genetic Epilepsy v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HAX1 was set to Unknown
Genetic Epilepsy v0.0 HACE1 Zornitza Stark gene: HACE1 was added
gene: HACE1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HACE1 was set to Unknown
Genetic Epilepsy v0.0 GTPBP3 Zornitza Stark gene: GTPBP3 was added
gene: GTPBP3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GTPBP3 was set to Unknown
Genetic Epilepsy v0.0 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GSS was set to Unknown
Genetic Epilepsy v0.0 GRIN2D Zornitza Stark gene: GRIN2D was added
gene: GRIN2D was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRIN2D was set to Unknown
Genetic Epilepsy v0.0 GRIN2B Zornitza Stark gene: GRIN2B was added
gene: GRIN2B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRIN2B was set to Unknown
Genetic Epilepsy v0.0 GRIN2A Zornitza Stark gene: GRIN2A was added
gene: GRIN2A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRIN2A was set to Unknown
Genetic Epilepsy v0.0 GRIN1 Zornitza Stark gene: GRIN1 was added
gene: GRIN1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRIN1 was set to Unknown
Genetic Epilepsy v0.0 GRIA4 Zornitza Stark gene: GRIA4 was added
gene: GRIA4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRIA4 was set to Unknown
Genetic Epilepsy v0.0 GPHN Zornitza Stark gene: GPHN was added
gene: GPHN was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPHN was set to Unknown
Genetic Epilepsy v0.0 GPAA1 Zornitza Stark gene: GPAA1 was added
gene: GPAA1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPAA1 was set to Unknown
Genetic Epilepsy v0.0 GOSR2 Zornitza Stark gene: GOSR2 was added
gene: GOSR2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GOSR2 was set to Unknown
Genetic Epilepsy v0.0 GNB1 Zornitza Stark gene: GNB1 was added
gene: GNB1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNB1 was set to Unknown
Genetic Epilepsy v0.0 GNAQ Zornitza Stark gene: GNAQ was added
gene: GNAQ was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNAQ was set to Unknown
Genetic Epilepsy v0.0 GNAO1 Zornitza Stark gene: GNAO1 was added
gene: GNAO1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNAO1 was set to Unknown
Genetic Epilepsy v0.0 GM2A Zornitza Stark gene: GM2A was added
gene: GM2A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GM2A was set to Unknown
Genetic Epilepsy v0.0 GLYCTK Zornitza Stark gene: GLYCTK was added
gene: GLYCTK was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLYCTK was set to Unknown
Genetic Epilepsy v0.0 GLUL Zornitza Stark gene: GLUL was added
gene: GLUL was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLUL was set to Unknown
Genetic Epilepsy v0.0 GLUD1 Zornitza Stark gene: GLUD1 was added
gene: GLUD1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLUD1 was set to Unknown
Genetic Epilepsy v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLDC was set to Unknown
Genetic Epilepsy v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLB1 was set to Unknown
Genetic Epilepsy v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GFM1 was set to Unknown
Genetic Epilepsy v0.0 GFAP Zornitza Stark gene: GFAP was added
gene: GFAP was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GFAP was set to Unknown
Genetic Epilepsy v0.0 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GCH1 was set to Unknown
Genetic Epilepsy v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBA was set to Unknown
Genetic Epilepsy v0.0 GAMT Zornitza Stark gene: GAMT was added
gene: GAMT was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GAMT was set to Unknown
Genetic Epilepsy v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GALC was set to Unknown
Genetic Epilepsy v0.0 GABRG2 Zornitza Stark gene: GABRG2 was added
gene: GABRG2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GABRG2 was set to Unknown
Genetic Epilepsy v0.0 GABRB3 Zornitza Stark gene: GABRB3 was added
gene: GABRB3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GABRB3 was set to Unknown
Genetic Epilepsy v0.0 GABRB2 Zornitza Stark gene: GABRB2 was added
gene: GABRB2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GABRB2 was set to Unknown
Genetic Epilepsy v0.0 GABRA1 Zornitza Stark gene: GABRA1 was added
gene: GABRA1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GABRA1 was set to Unknown
Genetic Epilepsy v0.0 GABBR2 Zornitza Stark gene: GABBR2 was added
gene: GABBR2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GABBR2 was set to Unknown
Genetic Epilepsy v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FUCA1 was set to Unknown
Genetic Epilepsy v0.0 FRRS1L Zornitza Stark gene: FRRS1L was added
gene: FRRS1L was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FRRS1L was set to Unknown
Genetic Epilepsy v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXRED1 was set to Unknown
Genetic Epilepsy v0.0 FOXG1 Zornitza Stark gene: FOXG1 was added
gene: FOXG1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXG1 was set to Unknown
Genetic Epilepsy v0.0 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOLR1 was set to Unknown
Genetic Epilepsy v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLNA was set to Unknown
Genetic Epilepsy v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKTN was set to Unknown
Genetic Epilepsy v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKRP was set to Unknown
Genetic Epilepsy v0.0 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FIG4 was set to Unknown
Genetic Epilepsy v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FH was set to Unknown
Genetic Epilepsy v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR3 was set to Unknown
Genetic Epilepsy v0.0 FGF12 Zornitza Stark gene: FGF12 was added
gene: FGF12 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF12 was set to Unknown
Genetic Epilepsy v0.0 FDFT1 Zornitza Stark gene: FDFT1 was added
gene: FDFT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FDFT1 was set to Unknown
Genetic Epilepsy v0.0 FBXL4 Zornitza Stark gene: FBXL4 was added
gene: FBXL4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FBXL4 was set to Unknown
Genetic Epilepsy v0.0 FASTKD2 Zornitza Stark gene: FASTKD2 was added
gene: FASTKD2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FASTKD2 was set to Unknown
Genetic Epilepsy v0.0 FARS2 Zornitza Stark gene: FARS2 was added
gene: FARS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FARS2 was set to Unknown
Genetic Epilepsy v0.0 FAR1 Zornitza Stark gene: FAR1 was added
gene: FAR1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAR1 was set to Unknown
Genetic Epilepsy v0.0 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXOSC3 was set to Unknown
Genetic Epilepsy v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ETHE1 was set to Unknown
Genetic Epilepsy v0.0 EPM2A Zornitza Stark gene: EPM2A was added
gene: EPM2A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPM2A was set to Unknown
Genetic Epilepsy v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPG5 was set to Unknown
Genetic Epilepsy v0.0 EMX2 Zornitza Stark gene: EMX2 was added
gene: EMX2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EMX2 was set to Unknown
Genetic Epilepsy v0.0 EML1 Zornitza Stark gene: EML1 was added
gene: EML1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EML1 was set to Unknown
Genetic Epilepsy v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF2S3 was set to Unknown
Genetic Epilepsy v0.0 EIF2B5 Zornitza Stark gene: EIF2B5 was added
gene: EIF2B5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF2B5 was set to Unknown
Genetic Epilepsy v0.0 EIF2B4 Zornitza Stark gene: EIF2B4 was added
gene: EIF2B4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF2B4 was set to Unknown
Genetic Epilepsy v0.0 EIF2B3 Zornitza Stark gene: EIF2B3 was added
gene: EIF2B3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF2B3 was set to Unknown
Genetic Epilepsy v0.0 EIF2B2 Zornitza Stark gene: EIF2B2 was added
gene: EIF2B2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF2B2 was set to Unknown
Genetic Epilepsy v0.0 EIF2B1 Zornitza Stark gene: EIF2B1 was added
gene: EIF2B1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF2B1 was set to Unknown
Genetic Epilepsy v0.0 EHMT1 Zornitza Stark gene: EHMT1 was added
gene: EHMT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EHMT1 was set to Unknown
Genetic Epilepsy v0.0 EFHC1 Zornitza Stark gene: EFHC1 was added
gene: EFHC1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EFHC1 was set to Unknown
Genetic Epilepsy v0.0 EEF1A2 Zornitza Stark gene: EEF1A2 was added
gene: EEF1A2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EEF1A2 was set to Unknown
Genetic Epilepsy v0.0 EARS2 Zornitza Stark gene: EARS2 was added
gene: EARS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EARS2 was set to Unknown
Genetic Epilepsy v0.0 DYRK1A Zornitza Stark gene: DYRK1A was added
gene: DYRK1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DYRK1A was set to Unknown
Genetic Epilepsy v0.0 DYNC1H1 Zornitza Stark gene: DYNC1H1 was added
gene: DYNC1H1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DYNC1H1 was set to Unknown
Genetic Epilepsy v0.0 DPYD Zornitza Stark gene: DPYD was added
gene: DPYD was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DPYD was set to Unknown
Genetic Epilepsy v0.0 DPM2 Zornitza Stark gene: DPM2 was added
gene: DPM2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DPM2 was set to Unknown
Genetic Epilepsy v0.0 DPM1 Zornitza Stark gene: DPM1 was added
gene: DPM1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DPM1 was set to Unknown
Genetic Epilepsy v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DPAGT1 was set to Unknown
Genetic Epilepsy v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DOLK was set to Unknown
Genetic Epilepsy v0.0 DOCK7 Zornitza Stark gene: DOCK7 was added
gene: DOCK7 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DOCK7 was set to Unknown
Genetic Epilepsy v0.0 DNM1L Zornitza Stark gene: DNM1L was added
gene: DNM1L was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNM1L was set to Unknown
Genetic Epilepsy v0.0 DNM1 Zornitza Stark gene: DNM1 was added
gene: DNM1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNM1 was set to Unknown
Genetic Epilepsy v0.0 DNAJC6 Zornitza Stark gene: DNAJC6 was added
gene: DNAJC6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAJC6 was set to Unknown
Genetic Epilepsy v0.0 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DIAPH1 was set to Unknown
Genetic Epilepsy v0.0 DHX30 Zornitza Stark gene: DHX30 was added
gene: DHX30 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DHX30 was set to Unknown
Genetic Epilepsy v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DHCR24 was set to Unknown
Genetic Epilepsy v0.0 DEPDC5 Zornitza Stark gene: DEPDC5 was added
gene: DEPDC5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DEPDC5 was set to Unknown
Genetic Epilepsy v0.0 DENND5A Zornitza Stark gene: DENND5A was added
gene: DENND5A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DENND5A was set to Unknown
Genetic Epilepsy v0.0 DDX3X Zornitza Stark gene: DDX3X was added
gene: DDX3X was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDX3X was set to Unknown
Genetic Epilepsy v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DCX was set to Unknown
Genetic Epilepsy v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DBT was set to Unknown
Genetic Epilepsy v0.0 D2HGDH Zornitza Stark gene: D2HGDH was added
gene: D2HGDH was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: D2HGDH was set to Unknown
Genetic Epilepsy v0.0 CYFIP2 Zornitza Stark gene: CYFIP2 was added
gene: CYFIP2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYFIP2 was set to Unknown
Genetic Epilepsy v0.0 CUX2 Zornitza Stark gene: CUX2 was added
gene: CUX2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CUX2 was set to Unknown
Genetic Epilepsy v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTSD was set to Unknown
Genetic Epilepsy v0.0 CSTB Zornitza Stark gene: CSTB was added
gene: CSTB was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSTB was set to Unknown
Genetic Epilepsy v0.0 CSNK2B Zornitza Stark gene: CSNK2B was added
gene: CSNK2B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSNK2B was set to Unknown
Genetic Epilepsy v0.0 CPA6 Zornitza Stark gene: CPA6 was added
gene: CPA6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPA6 was set to Unknown
Genetic Epilepsy v0.0 COX15 Zornitza Stark gene: COX15 was added
gene: COX15 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX15 was set to Unknown
Genetic Epilepsy v0.0 COX10 Zornitza Stark gene: COX10 was added
gene: COX10 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX10 was set to Unknown
Genetic Epilepsy v0.0 COQ9 Zornitza Stark gene: COQ9 was added
gene: COQ9 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ9 was set to Unknown
Genetic Epilepsy v0.0 COQ6 Zornitza Stark gene: COQ6 was added
gene: COQ6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ6 was set to Unknown
Genetic Epilepsy v0.0 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ4 was set to Unknown
Genetic Epilepsy v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ2 was set to Unknown
Genetic Epilepsy v0.0 COL4A2 Zornitza Stark gene: COL4A2 was added
gene: COL4A2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A2 was set to Unknown
Genetic Epilepsy v0.0 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A1 was set to Unknown
Genetic Epilepsy v0.0 COL18A1 Zornitza Stark gene: COL18A1 was added
gene: COL18A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL18A1 was set to Unknown
Genetic Epilepsy v0.0 COG8 Zornitza Stark gene: COG8 was added
gene: COG8 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG8 was set to Unknown
Genetic Epilepsy v0.0 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG7 was set to Unknown
Genetic Epilepsy v0.0 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG6 was set to Unknown
Genetic Epilepsy v0.0 COG4 Zornitza Stark gene: COG4 was added
gene: COG4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG4 was set to Unknown
Genetic Epilepsy v0.0 CNTNAP2 Zornitza Stark gene: CNTNAP2 was added
gene: CNTNAP2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CNTNAP2 was set to Unknown
Genetic Epilepsy v0.0 CNPY3 Zornitza Stark gene: CNPY3 was added
gene: CNPY3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CNPY3 was set to Unknown
Genetic Epilepsy v0.0 CNNM2 Zornitza Stark gene: CNNM2 was added
gene: CNNM2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CNNM2 was set to Unknown
Genetic Epilepsy v0.0 CNKSR2 Zornitza Stark gene: CNKSR2 was added
gene: CNKSR2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CNKSR2 was set to Unknown
Genetic Epilepsy v0.0 CLTC Zornitza Stark gene: CLTC was added
gene: CLTC was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLTC was set to Unknown
Genetic Epilepsy v0.0 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLN8 was set to Unknown
Genetic Epilepsy v0.0 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLN3 was set to Unknown
Genetic Epilepsy v0.0 CLCN4 Zornitza Stark gene: CLCN4 was added
gene: CLCN4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLCN4 was set to Unknown
Genetic Epilepsy v0.0 CIC Zornitza Stark gene: CIC was added
gene: CIC was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CIC was set to Unknown
Genetic Epilepsy v0.0 CHRNB2 Zornitza Stark gene: CHRNB2 was added
gene: CHRNB2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRNB2 was set to Unknown
Genetic Epilepsy v0.0 CHRNA4 Zornitza Stark gene: CHRNA4 was added
gene: CHRNA4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRNA4 was set to Unknown
Genetic Epilepsy v0.0 CHRNA2 Zornitza Stark gene: CHRNA2 was added
gene: CHRNA2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRNA2 was set to Unknown
Genetic Epilepsy v0.0 CHD4 Zornitza Stark gene: CHD4 was added
gene: CHD4 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD4 was set to Unknown
Genetic Epilepsy v0.0 CHD2 Zornitza Stark gene: CHD2 was added
gene: CHD2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD2 was set to Unknown
Genetic Epilepsy v0.0 CDKL5 Zornitza Stark gene: CDKL5 was added
gene: CDKL5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDKL5 was set to Unknown
Genetic Epilepsy v0.0 CCDC88A Zornitza Stark gene: CCDC88A was added
gene: CCDC88A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC88A was set to Unknown
Genetic Epilepsy v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CC2D2A was set to Unknown
Genetic Epilepsy v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CASK was set to Unknown
Genetic Epilepsy v0.0 CACNA2D2 Zornitza Stark gene: CACNA2D2 was added
gene: CACNA2D2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA2D2 was set to Unknown
Genetic Epilepsy v0.0 CACNA1G Zornitza Stark gene: CACNA1G was added
gene: CACNA1G was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA1G was set to Unknown
Genetic Epilepsy v0.0 CACNA1E Zornitza Stark gene: CACNA1E was added
gene: CACNA1E was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA1E was set to Unknown
Genetic Epilepsy v0.0 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA1D was set to Unknown
Genetic Epilepsy v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA1A was set to Unknown
Genetic Epilepsy v0.0 C12orf57 Zornitza Stark gene: C12orf57 was added
gene: C12orf57 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C12orf57 was set to Unknown
Genetic Epilepsy v0.0 BTD Zornitza Stark gene: BTD was added
gene: BTD was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BTD was set to Unknown
Genetic Epilepsy v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BSCL2 was set to Unknown
Genetic Epilepsy v0.0 BRAT1 Zornitza Stark gene: BRAT1 was added
gene: BRAT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRAT1 was set to Unknown
Genetic Epilepsy v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRAF was set to Unknown
Genetic Epilepsy v0.0 BOLA3 Zornitza Stark gene: BOLA3 was added
gene: BOLA3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BOLA3 was set to Unknown
Genetic Epilepsy v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCS1L was set to Unknown
Genetic Epilepsy v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCKDHB was set to Unknown
Genetic Epilepsy v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCKDHA was set to Unknown
Genetic Epilepsy v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATRX was set to Unknown
Genetic Epilepsy v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP7A was set to Unknown
Genetic Epilepsy v0.0 ATP6AP2 Zornitza Stark gene: ATP6AP2 was added
gene: ATP6AP2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP6AP2 was set to Unknown
Genetic Epilepsy v0.0 ATP5A1 Zornitza Stark gene: ATP5A1 was added
gene: ATP5A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP5A1 was set to Unknown
Genetic Epilepsy v0.0 ATP1A3 Zornitza Stark gene: ATP1A3 was added
gene: ATP1A3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP1A3 was set to Unknown
Genetic Epilepsy v0.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP1A2 was set to Unknown
Genetic Epilepsy v0.0 ASTN1 Zornitza Stark gene: ASTN1 was added
gene: ASTN1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASTN1 was set to Unknown
Genetic Epilepsy v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASPA was set to Unknown
Genetic Epilepsy v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARX was set to Unknown
Genetic Epilepsy v0.0 ARV1 Zornitza Stark gene: ARV1 was added
gene: ARV1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARV1 was set to Unknown
Genetic Epilepsy v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARID1B was set to Unknown
Genetic Epilepsy v0.0 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGEF9 was set to Unknown
Genetic Epilepsy v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARFGEF2 was set to Unknown
Genetic Epilepsy v0.0 AP3B2 Zornitza Stark gene: AP3B2 was added
gene: AP3B2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AP3B2 was set to Unknown
Genetic Epilepsy v0.0 ANKRD17 Zornitza Stark gene: ANKRD17 was added
gene: ANKRD17 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANKRD17 was set to Unknown
Genetic Epilepsy v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AMT was set to Unknown
Genetic Epilepsy v0.0 AMPD2 Zornitza Stark gene: AMPD2 was added
gene: AMPD2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AMPD2 was set to Unknown
Genetic Epilepsy v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALPL was set to Unknown
Genetic Epilepsy v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG9 was set to Unknown
Genetic Epilepsy v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG8 was set to Unknown
Genetic Epilepsy v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG6 was set to Unknown
Genetic Epilepsy v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG3 was set to Unknown
Genetic Epilepsy v0.0 ALG13 Zornitza Stark gene: ALG13 was added
gene: ALG13 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG13 was set to Unknown
Genetic Epilepsy v0.0 ALG11 Zornitza Stark gene: ALG11 was added
gene: ALG11 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG11 was set to Unknown
Genetic Epilepsy v0.0 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG1 was set to Unknown
Genetic Epilepsy v0.0 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALDH7A1 was set to Unknown
Genetic Epilepsy v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALDH5A1 was set to Unknown
Genetic Epilepsy v0.0 AKT3 Zornitza Stark gene: AKT3 was added
gene: AKT3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AKT3 was set to Unknown
Genetic Epilepsy v0.0 AKT1 Zornitza Stark gene: AKT1 was added
gene: AKT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AKT1 was set to Unknown
Genetic Epilepsy v0.0 AIMP1 Zornitza Stark gene: AIMP1 was added
gene: AIMP1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AIMP1 was set to Unknown
Genetic Epilepsy v0.0 AGO3 Zornitza Stark gene: AGO3 was added
gene: AGO3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AGO3 was set to Unknown
Genetic Epilepsy v0.0 ADSL Zornitza Stark gene: ADSL was added
gene: ADSL was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADSL was set to Unknown
Genetic Epilepsy v0.0 ADRA2B Zornitza Stark gene: ADRA2B was added
gene: ADRA2B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADRA2B was set to Unknown
Genetic Epilepsy v0.0 ADPRHL2 Zornitza Stark gene: ADPRHL2 was added
gene: ADPRHL2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADPRHL2 was set to Unknown
Genetic Epilepsy v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADGRG1 was set to Unknown
Genetic Epilepsy v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADAR was set to Unknown
Genetic Epilepsy v0.0 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACOX1 was set to Unknown
Genetic Epilepsy v0.0 ABAT Zornitza Stark gene: ABAT was added
gene: ABAT was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABAT was set to Unknown
Genetic Epilepsy v0.0 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AARS2 was set to Unknown
Genetic Epilepsy v0.0 AARS Zornitza Stark gene: AARS was added
gene: AARS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AARS was set to Unknown
Genetic Epilepsy v0.0 Zornitza Stark Added panel Genetic Epilepsy_AustralianGenomics_VCGS