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Progressive Myoclonic Epilepsy v0.19 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Red List (low evidence)
Progressive Myoclonic Epilepsy v0.19 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Progressive Myoclonic Epilepsy v0.18 PRICKLE1 Zornitza Stark changed review comment from: LIMITED by ClinGen.; to: LIMITED by ClinGen for AR PME, and DISPUTED for AD epilepsy.
Progressive Myoclonic Epilepsy v0.18 PRICKLE1 Zornitza Stark edited their review of gene: PRICKLE1: Added comment: LIMITED by ClinGen.; Changed rating: RED
Progressive Myoclonic Epilepsy v0.18 PRICKLE1 Zornitza Stark Marked gene: PRICKLE1 as ready
Progressive Myoclonic Epilepsy v0.18 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Amber List (Moderate Evidence).
Progressive Myoclonic Epilepsy v0.18 PRICKLE1 Zornitza Stark Publications for gene: PRICKLE1 were set to
Progressive Myoclonic Epilepsy v0.17 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Amber List (moderate evidence)
Progressive Myoclonic Epilepsy v0.17 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Amber List (Moderate Evidence).
Progressive Myoclonic Epilepsy v0.16 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18976727, 30564977; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.16 Zornitza Stark HPO terms changed from to Myoclonic seizure, HP:0032794
List of related panels changed from to Myoclonic seizure; HP:0032794
Progressive Myoclonic Epilepsy v0.15 FBXO28 Zornitza Stark Marked gene: FBXO28 as ready
Progressive Myoclonic Epilepsy v0.15 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.15 FBXO28 Zornitza Stark Phenotypes for gene: FBXO28 were changed from Infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy to Developmental and epileptic encephalopathy 100 , MIM#619777
Progressive Myoclonic Epilepsy v0.14 FBXO28 Zornitza Stark Classified gene: FBXO28 as Green List (high evidence)
Progressive Myoclonic Epilepsy v0.14 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.13 FBXO28 Zornitza Stark reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 100 , MIM#619777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive Myoclonic Epilepsy v0.13 FBXO28 Shekeeb Mohammad gene: FBXO28 was added
gene: FBXO28 was added to Progressive Myoclonic Epilepsy. Sources: Literature
Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO28 were set to 33280099
Phenotypes for gene: FBXO28 were set to Infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy
Penetrance for gene: FBXO28 were set to unknown
Review for gene: FBXO28 was set to GREEN
gene: FBXO28 was marked as current diagnostic
Added comment: Sources: Literature
Progressive Myoclonic Epilepsy v0.13 KCNC1 Daniel Flanagan reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25401298; Phenotypes: Epilepsy, progressive myoclonic 7 (MIM#616187); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive Myoclonic Epilepsy v0.13 DNAJC5 Bryony Thompson Marked gene: DNAJC5 as ready
Progressive Myoclonic Epilepsy v0.13 DNAJC5 Bryony Thompson Gene: dnajc5 has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.13 DNAJC5 Bryony Thompson Classified gene: DNAJC5 as Green List (high evidence)
Progressive Myoclonic Epilepsy v0.13 DNAJC5 Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP gene-disease curation: Moderate, >3 families reported. Classification - 07/30/2021
Progressive Myoclonic Epilepsy v0.13 DNAJC5 Bryony Thompson Gene: dnajc5 has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.12 DNAJC5 Bryony Thompson Publications for gene: DNAJC5 were set to
Progressive Myoclonic Epilepsy v0.11 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Progressive Myoclonic Epilepsy v0.10 SLC7A6OS Zornitza Stark Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12, MIM# 619191
Progressive Myoclonic Epilepsy v0.9 SLC7A6OS Zornitza Stark edited their review of gene: SLC7A6OS: Changed phenotypes: Epilepsy, progressive myoclonic, 12, MIM# 619191
Progressive Myoclonic Epilepsy v0.9 SLC7A6OS Zornitza Stark Marked gene: SLC7A6OS as ready
Progressive Myoclonic Epilepsy v0.9 SLC7A6OS Zornitza Stark Gene: slc7a6os has been classified as Red List (Low Evidence).
Progressive Myoclonic Epilepsy v0.9 SLC7A6OS Zornitza Stark gene: SLC7A6OS was added
gene: SLC7A6OS was added to Progressive Myoclonic Epilepsy. Sources: Literature
Mode of inheritance for gene: SLC7A6OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A6OS were set to 33085104
Phenotypes for gene: SLC7A6OS were set to Progressive myoclonus epilepsy
Review for gene: SLC7A6OS was set to RED
Added comment: Two unrelated families reported with same homozygous splice site variant, shared haplotype (founder effect). Limited functional data.
Sources: Literature
Progressive Myoclonic Epilepsy v0.8 CSTB Zornitza Stark Marked gene: CSTB as ready
Progressive Myoclonic Epilepsy v0.8 CSTB Zornitza Stark Gene: cstb has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.8 CSTB Zornitza Stark Phenotypes for gene: CSTB were changed from Unverricht-Lundborg syndrome; Epilepsy, progressive myoclonic type 1 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Progressive Myoclonic Epilepsy v0.7 CSTB Zornitza Stark Publications for gene: CSTB were set to
Progressive Myoclonic Epilepsy v0.6 CSTB Zornitza Stark Tag 5'UTR tag was added to gene: CSTB.
Tag STR tag was added to gene: CSTB.
Progressive Myoclonic Epilepsy v0.6 CSTB Zornitza Stark reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9012407, 9054946; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.6 AFG3L2 Bryony Thompson Classified gene: AFG3L2 as Red List (low evidence)
Progressive Myoclonic Epilepsy v0.6 AFG3L2 Bryony Thompson Gene: afg3l2 has been classified as Red List (Low Evidence).
Progressive Myoclonic Epilepsy v0.3 ATP13A2 Bryony Thompson reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30868101, 21362476, 31588715, 22388936; Phenotypes: Kufor-Rakeb syndrome MIM#606693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.3 AFG3L2 Bryony Thompson edited their review of gene: AFG3L2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.3 AFG3L2 Bryony Thompson changed review comment from: Currently two clear-cut reports of PME associated with biallelic variants in this gene. Two Italian patients with the same homozygous variant (found to be related through identity by decent analysis), who presented with severe progressive myoclonus at age 10 years after normal early development. Progressive myoclonic epilepsy found to be a feature of the phenotype in a consanguineous family with a homozygous variant. Family with a homozygous SETX variant and a heterozygous AFG3L2 variant with ataxia with postural/intentional myoclonus and involuntary movements, where the myoclonus phenotype appears to be segregating with the AFG3L2 variant.; to: Currently two clear-cut reports of PME associated with biallelic variants in this gene. Two Italian patients with the same homozygous variant (found to be related through identity by decent analysis), who presented with severe progressive myoclonus at age 10 years after normal early development. Progressive myoclonic epilepsy found to be a feature of the phenotype in a consanguineous family with a homozygous variant. Family with a homozygous SETX variant and a heterozygous AFG3L2 variant with ataxia with postural/intentional myoclonus and involuntary movements, where the myoclonus phenotype appears to be segregating with the AFG3L2 variant.
Progressive Myoclonic Epilepsy v0.3 AFG3L2 Bryony Thompson Mode of inheritance for gene: AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.2 AFG3L2 Bryony Thompson Classified gene: AFG3L2 as Amber List (moderate evidence)
Progressive Myoclonic Epilepsy v0.2 AFG3L2 Bryony Thompson Gene: afg3l2 has been classified as Amber List (Moderate Evidence).
Progressive Myoclonic Epilepsy v0.1 AFG3L2 Bryony Thompson reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25401298, 22022284, 25927548; Phenotypes: Spastic ataxia 5, autosomal recessive MIM#614487, Spinocerebellar ataxia 28 MIM#610246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.1 Bryony Thompson Panel name changed from Progressive Myoclonic Epilepsy_RMH to Progressive Myoclonic Epilepsy
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Progressive Myoclonic Epilepsy v0.0 TPP1 Bryony Thompson gene: TPP1 was added
gene: TPP1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2 204500
Progressive Myoclonic Epilepsy v0.0 TBC1D24 Bryony Thompson gene: TBC1D24 was added
gene: TBC1D24 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16 615338; DOORS syndrome 220500; Myoclonic epilepsy, infantile, familial 605021
Progressive Myoclonic Epilepsy v0.0 SERPINI1 Bryony Thompson gene: SERPINI1 was added
gene: SERPINI1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SERPINI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SERPINI1 were set to Encephalopathy, familial, with neuroserpin inclusion bodies
Progressive Myoclonic Epilepsy v0.0 SCARB2 Bryony Thompson gene: SCARB2 was added
gene: SCARB2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Progressive Myoclonic Epilepsy v0.0 PRICKLE1 Bryony Thompson gene: PRICKLE1 was added
gene: PRICKLE1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRICKLE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B 612437
Progressive Myoclonic Epilepsy v0.0 PPT1 Bryony Thompson gene: PPT1 was added
gene: PPT1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 256730
Progressive Myoclonic Epilepsy v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Progressive Myoclonic Epilepsy v0.0 NHLRC1 Bryony Thompson gene: NHLRC1 was added
gene: NHLRC1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Progressive Myoclonic Epilepsy v0.0 NEU1 Bryony Thompson gene: NEU1 was added
gene: NEU1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type II
Progressive Myoclonic Epilepsy v0.0 MFSD8 Bryony Thompson gene: MFSD8 was added
gene: MFSD8 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951
Progressive Myoclonic Epilepsy v0.0 KCTD7 Bryony Thompson gene: KCTD7 was added
gene: KCTD7 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
Progressive Myoclonic Epilepsy v0.0 KCNC1 Bryony Thompson gene: KCNC1 was added
gene: KCNC1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC1 were set to Epilepsy, progressive myoclonic 7 616187
Progressive Myoclonic Epilepsy v0.0 GRN Bryony Thompson gene: GRN was added
gene: GRN was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11, MIM#614706
Progressive Myoclonic Epilepsy v0.0 GOSR2 Bryony Thompson gene: GOSR2 was added
gene: GOSR2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018
Progressive Myoclonic Epilepsy v0.0 GABRB2 Bryony Thompson gene: GABRB2 was added
gene: GABRB2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GABRB2 were set to Epileptic encephalopathy, infantile or early childhood, 2, 617829
Progressive Myoclonic Epilepsy v0.0 FOLR1 Bryony Thompson gene: FOLR1 was added
gene: FOLR1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068; seizures
Progressive Myoclonic Epilepsy v0.0 FARS2 Bryony Thompson gene: FARS2 was added
gene: FARS2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946
Progressive Myoclonic Epilepsy v0.0 EPM2A Bryony Thompson gene: EPM2A was added
gene: EPM2A was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780
Progressive Myoclonic Epilepsy v0.0 DNAJC5 Bryony Thompson gene: DNAJC5 was added
gene: DNAJC5 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNAJC5 were set to autosomal dominant Kufs disease; generalized tonic clonic seizures; Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Progressive Myoclonic Epilepsy v0.0 CTSF Bryony Thompson gene: CTSF was added
gene: CTSF was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362
Progressive Myoclonic Epilepsy v0.0 CTSD Bryony Thompson gene: CTSD was added
gene: CTSD was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, 610127
Progressive Myoclonic Epilepsy v0.0 CSTB Bryony Thompson gene: CSTB was added
gene: CSTB was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Unverricht-Lundborg syndrome; Epilepsy, progressive myoclonic type 1
Progressive Myoclonic Epilepsy v0.0 CLN8 Bryony Thompson gene: CLN8 was added
gene: CLN8 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; Ceroid lipofuscinosis, neuronal, 8 600143
Progressive Myoclonic Epilepsy v0.0 CLN6 Bryony Thompson gene: CLN6 was added
gene: CLN6 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780
Progressive Myoclonic Epilepsy v0.0 CLN5 Bryony Thompson gene: CLN5 was added
gene: CLN5 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, MIM#256731
Progressive Myoclonic Epilepsy v0.0 CLN3 Bryony Thompson gene: CLN3 was added
gene: CLN3 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 204200
Progressive Myoclonic Epilepsy v0.0 CERS1 Bryony Thompson gene: CERS1 was added
gene: CERS1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CERS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS1 were set to ?Epilepsy, progressive myoclonic, 8, 616230
Progressive Myoclonic Epilepsy v0.0 BRAT1 Bryony Thompson gene: BRAT1 was added
gene: BRAT1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal 614498
Progressive Myoclonic Epilepsy v0.0 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Juvenile parkinsonism-neuronal ceroid lipofuscinosis
Progressive Myoclonic Epilepsy v0.0 ASAH1 Bryony Thompson gene: ASAH1 was added
gene: ASAH1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Progressive Myoclonic Epilepsy v0.0 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
Progressive Myoclonic Epilepsy v0.0 Bryony Thompson Added panel Progressive Myoclonic Epilepsy_RMH