{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=503","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=501","results":[{"created":"2023-12-22T14:42:00.866332+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2098","user_name":"Elena Savva","item_type":"entity","text":"Gene: pank2 has been classified as Red List (Low Evidence).","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-12-22T14:41:32.988944+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2098","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: PANK2 as Red List (low evidence)","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-12-22T14:41:32.963691+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2098","user_name":"Elena Savva","item_type":"entity","text":"Gene: pank2 has been classified as Red List (Low Evidence).","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-12-22T14:41:03.416965+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2097","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: PANK2 as Red List (low evidence)","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-12-22T14:41:03.396316+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2097","user_name":"Elena Savva","item_type":"entity","text":"Gene: pank2 has been classified as Red List (Low Evidence).","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-12-22T14:40:42.894709+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2097","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: PANK2 as ready","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-12-22T14:40:42.884750+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2097","user_name":"Elena Savva","item_type":"entity","text":"Gene: pank2 has been removed from the panel.","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-12-22T14:40:36.454021+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2097","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: OGT were set to PMID: 28302723; 28584052; 31296563; 31627256; 29769320; 29606577","entity_name":"OGT","entity_type":"gene"},{"created":"2023-12-22T13:43:40.563580+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2096","user_name":"Lilian Downie","item_type":"entity","text":"gene: CAMTA1 was added\ngene: CAMTA1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAMTA1 were set to PMID: 31957018\nPhenotypes for gene: CAMTA1 were set to Cerebellar dysfunction with variable cognitive and behavioral abnormalities MIM#614756\nReview for gene: CAMTA1 was set to RED\nAdded comment: PMID: 31957018 sequencing in an epilepsy cohort - if negative looked at 'candidate epilepy genes', variant identified in CAMTA1 in patient with infantile spasms, refractory epilepsy, dev delay and corticovisual impairment. \nSources: Expert list","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2023-12-22T12:14:12.754096+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.245","user_name":"Rylee Peters","item_type":"entity","text":"gene: SOX5 was added\ngene: SOX5 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX5 were set to PMID: 36861937\nPhenotypes for gene: SOX5 were set to Lamb-Shaffer syndrome, MIM#616803\nReview for gene: SOX5 was set to AMBER\nAdded comment: Cohort of 16 patients with heterozygous variants in SOX5. Paper also describes 71 previously reported cases of individuals with variants in SOX5 associated with Lamb–Shaffer Syndrome.\r\n\r\nMicrocephaly is reported in 14% of individuals with variants in SOX5 (calculated from both the current and previously reported cohorts). \nSources: Literature","entity_name":"SOX5","entity_type":"gene"},{"created":"2023-12-22T11:46:08.239828+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2096","user_name":"Lilian Downie","item_type":"entity","text":"gene: C19orf12 was added\ngene: C19orf12 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4\tMIM#614298\nReview for gene: C19orf12 was set to RED\nAdded comment: Review of literature, no evidence of seizures as part of the phenotype with this gene \nSources: Expert list","entity_name":"C19orf12","entity_type":"gene"},{"created":"2023-12-22T10:11:23.827524+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5653","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467598, 29392776, 37317634; Phenotypes: Intellectual developmental disorder with paroxysmal dyskinesia or seizures MIM#619150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDE2A","entity_type":"gene"},{"created":"2023-12-22T10:09:42.975220+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2096","user_name":"Lauren Rogers","item_type":"entity","text":"gene: PDE2A was added\ngene: PDE2A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PDE2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE2A were set to 32467598; 32196122; 37317634\nPhenotypes for gene: PDE2A were set to Intellectual developmental disorder with paroxysmal dyskinesia or seizures\tMIM#619150\nReview for gene: PDE2A was set to AMBER\nAdded comment: PMID: 32467598: In a case report of 2 unrelated families with childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, one family had two affected siblings who had a homozygous p.(Gln394*) variant. The younger sibling having epilepsy (unclear in the other sibling).\r\n\r\nPMID: 32196122: A case report of 2 affected individuals from a consanguineous Iraqi family presenting with the atypical Rett phenotype with a homozygous c.323 + 1G > A variant. Both had epilepsy.\r\n\r\nPMID: 37317634: 6 Pakistani individuals from 3 families with paroxysmal dyskinesia, developmental delay, cognitive abnormalities, speech impairment, and seizures with variable disease onset. Seizures included tonic clonic/generalised, upper limb only or myoclonic pattern/focal seizures. All individuals had the same homozygous missense variant p.(Phe505Ser), called a founder variant. \nSources: Literature","entity_name":"PDE2A","entity_type":"gene"},{"created":"2023-12-22T09:15:31.816589+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2096","user_name":"Lauren Rogers","item_type":"entity","text":"gene: PDCD10 was added\ngene: PDCD10 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PDCD10 were set to 25354366; 26246098\nPhenotypes for gene: PDCD10 were set to Cerebral cavernous malformations-3 MIM#603285\nReview for gene: PDCD10 was set to AMBER\nAdded comment: PMID: 25354366: in a cohort of 11 Italian individuals with multiple/familial cerebral cavernous malformations, and PDCD10 variants, 4 individuals had seizures, including left-sided focal sensory-motor seizures. The associated variants were a de novo p.(R35X) variant, c.376_380del; 392_393ins, p.(E54X) and a whole gene deletion. The father with the whole gene deletion had a child with the variant who does not have seizures.\r\n\r\nPMID: 26246098: A case report of an Italian family with three individuals (2x sisters and daughter) with cerebral cavernous malformations associated with meningioma.  They had a a p.(Gln112PhefsX13) variant. The daughter had a severe form of epilepsy and both sisters had seizures. \nSources: Literature","entity_name":"PDCD10","entity_type":"gene"},{"created":"2023-12-22T09:01:49.792051+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2096","user_name":"Lauren Rogers","item_type":"entity","text":"gene: PANK2 was added\ngene: PANK2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PANK2 were set to 27303611; 18462962\nPhenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1 MIM#234200\nReview for gene: PANK2 was set to RED\nAdded comment: PMID: 27303611: A case report of 1x child with neurodegeneration with brain iron accumulation 1, with seizure onset age 4 with frequent falls, not gaining milestones, progressive muscle dystonia, neuro-regression, and multiple injury marks of different stages. They had 2nd degree consanguineous parents. They were compound heterozygous for p.(Leu385CysfsX13) and p.(Arg440Pro). \r\n\r\nPMID: 18462962: A case report of 1x child neurodegeneration with brain iron accumulation 1, with refractory severe dystonia resulting in essentially complete loss of motor control, and an episode of a reported single generalized tonic clonic seizure. They were homozygous for a p.(Ala382Val) \nSources: Literature","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-12-21T17:15:39.308022+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.174","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAP1B were changed from Syndromic disease, MONDO:0002254, RAP1B-related to Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654","entity_name":"RAP1B","entity_type":"gene"},{"created":"2023-12-21T17:15:21.489588+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.173","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAP1B","entity_type":"gene"},{"created":"2023-12-21T17:14:55.065742+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAP1B were changed from Syndromic disease, MONDO:0002254, RAP1B-related to Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654","entity_name":"RAP1B","entity_type":"gene"},{"created":"2023-12-21T17:14:44.932128+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAP1B: Changed phenotypes: Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654","entity_name":"RAP1B","entity_type":"gene"},{"created":"2023-12-21T17:14:12.207725+11:00","panel_name":"Kabuki syndrome","panel_id":134,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAP1B were changed from Syndromic disease, MONDO:0002254, RAP1B-related; Kabuki-like syndrome to Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654; Kabuki-like syndrome","entity_name":"RAP1B","entity_type":"gene"},{"created":"2023-12-21T17:13:33.827439+11:00","panel_name":"Kabuki syndrome","panel_id":134,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAP1B: Changed phenotypes: Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654, Kabuki-like syndrome","entity_name":"RAP1B","entity_type":"gene"},{"created":"2023-12-21T17:10:54.164777+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAP1B were changed from Syndromic disease, MONDO:0002254, RAP1B-related to Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654","entity_name":"RAP1B","entity_type":"gene"},{"created":"2023-12-21T17:10:19.090256+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAP1B: Changed phenotypes: Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654","entity_name":"RAP1B","entity_type":"gene"},{"created":"2023-12-21T17:09:47.799226+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5653","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAP1B were changed from Syndromic disease, MONDO:0002254, RAP1B-related to Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654","entity_name":"RAP1B","entity_type":"gene"},{"created":"2023-12-21T17:09:12.078867+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5652","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAP1B: Changed phenotypes: Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654","entity_name":"RAP1B","entity_type":"gene"},{"created":"2023-12-21T17:08:48.989211+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1448","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAP1B were changed from Syndromic disease, MONDO:0002254, RAP1B-related; intellectual disability; microcephaly; thrombocytopaenia to Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654","entity_name":"RAP1B","entity_type":"gene"},{"created":"2023-12-21T17:08:23.301955+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1447","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAP1B: Changed phenotypes: Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654","entity_name":"RAP1B","entity_type":"gene"},{"created":"2023-12-21T17:00:31.758337+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2096","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: OGT: Rating: RED; Mode of pathogenicity: None; Publications: 29769320, 37334838; Phenotypes: Intellectual developmental disorder, X-linked 106 MIM#300997; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OGT","entity_type":"gene"},{"created":"2023-12-21T16:55:56.041539+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2096","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: PRICKLE1 were set to 34597683; 30564977; 30345727; 29790814; 26727662; 31035234","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-21T16:55:28.842730+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2096","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: PRICKLE1 as Amber List (moderate evidence)","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-21T16:55:28.831821+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2096","user_name":"Elena Savva","item_type":"entity","text":"Gene: prickle1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-21T16:47:14.516766+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2095","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: PGM3 were set to 33193641","entity_name":"PGM3","entity_type":"gene"},{"created":"2023-12-21T16:37:32.197347+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2094","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: ODC1: Rating: RED; Mode of pathogenicity: None; Publications: 34477286; Phenotypes: Bachmann-Bupp syndrome MIM#619075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ODC1","entity_type":"gene"},{"created":"2023-12-21T16:28:02.232202+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2094","user_name":"Lauren Rogers","item_type":"entity","text":"gene: PAK2 was added\ngene: PAK2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAK2 were set to 33693784\nPhenotypes for gene: PAK2 were set to Knobloch 2 syndrome MIM#618458\nReview for gene: PAK2 was set to RED\nAdded comment: Antonarakis et al., 2021 (PMID: 33693784) reported two affected siblings from a non-consanguineous New Zealand family. Both had retinal detachment and interstitial parenchymal pulmonary changes on chest X-rays, but only one child had additional significant features such as cataract, posterior encephalocele, severe DD/ID with ASD, and epilepsy. WES revealed a heterozygous PAK2 variant (c.1303 G>A, p.Glu435Lys) in both individuals that apparently occurred de novo indicating parental germ-line mosaicism; however, mosaicism could not be detected by deep sequencing of blood parental DNA. Functional studies showed that the variant, located in the kinase domain, results in a partial loss of the kinase activity. \nSources: Literature","entity_name":"PAK2","entity_type":"gene"},{"created":"2023-12-21T15:47:50.728556+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2094","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: RALGAPB: Rating: AMBER; Mode of pathogenicity: None; Publications: 32853829; Phenotypes: Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"RALGAPB","entity_type":"gene"},{"created":"2023-12-21T15:46:27.178226+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2094","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: RBL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RBL2","entity_type":"gene"},{"created":"2023-12-21T15:38:05.781097+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2094","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: PRICKLE2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34092786, 21276947, 26942291, 26942292; Phenotypes: Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"PRICKLE2","entity_type":"gene"},{"created":"2023-12-21T15:30:30.973986+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2094","user_name":"Lisa Norbart","item_type":"entity","text":"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","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-21T14:48:10.144278+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2094","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2 MIM#617506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"PPP1CB","entity_type":"gene"},{"created":"2023-12-21T14:34:00.202171+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2094","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24589341; Phenotypes: Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGM3","entity_type":"gene"},{"created":"2023-12-21T14:17:23.997696+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2094","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: OTUD7A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31997314, 29395075, 29395074, 33381903; Phenotypes: Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTUD7A","entity_type":"gene"},{"created":"2023-12-21T14:07:21.394032+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2094","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRRT2 as ready","entity_name":"PRRT2","entity_type":"gene"},{"created":"2023-12-21T14:07:21.381773+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2094","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prrt2 has been classified as Green List (High Evidence).","entity_name":"PRRT2","entity_type":"gene"},{"created":"2023-12-21T14:07:04.510703+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2094","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRRT2 were changed from  to Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751","entity_name":"PRRT2","entity_type":"gene"},{"created":"2023-12-21T14:06:29.475941+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2093","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRRT2 were set to ","entity_name":"PRRT2","entity_type":"gene"},{"created":"2023-12-21T14:05:40.487947+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2092","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRRT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PRRT2","entity_type":"gene"},{"created":"2023-12-21T14:03:52.884776+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2091","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTS as ready","entity_name":"PTS","entity_type":"gene"},{"created":"2023-12-21T14:03:52.862137+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2091","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pts has been classified as Green List (High Evidence).","entity_name":"PTS","entity_type":"gene"},{"created":"2023-12-21T14:03:47.062732+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2091","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTS were changed from  to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640","entity_name":"PTS","entity_type":"gene"},{"created":"2023-12-21T14:03:03.709774+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2090","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTS","entity_type":"gene"},{"created":"2023-12-21T14:02:24.324142+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2089","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the phenotype.","entity_name":"PTS","entity_type":"gene"},{"created":"2023-12-21T14:01:42.703925+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2089","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPN23 as ready","entity_name":"PTPN23","entity_type":"gene"},{"created":"2023-12-21T14:01:42.686884+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2089","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn23 has been classified as Green List (High Evidence).","entity_name":"PTPN23","entity_type":"gene"},{"created":"2023-12-21T14:01:39.305770+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2089","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPN23 were changed from  to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890","entity_name":"PTPN23","entity_type":"gene"},{"created":"2023-12-21T14:00:59.119119+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2088","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTPN23 were set to ","entity_name":"PTPN23","entity_type":"gene"},{"created":"2023-12-21T14:00:17.474099+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2087","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTPN23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTPN23","entity_type":"gene"},{"created":"2023-12-21T13:58:22.783098+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2086","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSAP as ready","entity_name":"PSAP","entity_type":"gene"},{"created":"2023-12-21T13:58:22.771501+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2086","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psap has been classified as Green List (High Evidence).","entity_name":"PSAP","entity_type":"gene"},{"created":"2023-12-21T13:58:18.217393+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2086","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSAP were changed from  to Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722; MONDO:0012720; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; MONDO:0009590; Gaucher disease, atypical, MIM# 610539; MONDO:0012517","entity_name":"PSAP","entity_type":"gene"},{"created":"2023-12-21T13:57:30.570132+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2085","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PSAP were set to ","entity_name":"PSAP","entity_type":"gene"},{"created":"2023-12-21T13:56:43.152044+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2084","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PSAP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PSAP","entity_type":"gene"},{"created":"2023-12-21T13:54:19.573555+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRODH as ready","entity_name":"PRODH","entity_type":"gene"},{"created":"2023-12-21T13:54:19.561103+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prodh has been classified as Green List (High Evidence).","entity_name":"PRODH","entity_type":"gene"},{"created":"2023-12-21T13:54:00.328737+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRODH were changed from  to Hyperprolinemia, type I, MIM# 239500; Proline oxidase deficiency","entity_name":"PRODH","entity_type":"gene"},{"created":"2023-12-21T13:53:12.316135+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2082","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRODH were set to ","entity_name":"PRODH","entity_type":"gene"},{"created":"2023-12-21T13:52:31.887874+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2081","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRODH","entity_type":"gene"},{"created":"2023-12-21T13:51:53.657960+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2080","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 5 unrelated families reported. \nSources: Expert list; to: At least 5 unrelated families reported. Epilepsy is part of the phenotype.\r\nSources: Expert list","entity_name":"PRODH","entity_type":"gene"},{"created":"2023-12-21T13:51:02.097482+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2080","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRICKLE1 as ready","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-21T13:51:02.066957+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2080","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Green List (High Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-21T13:50:54.205871+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2080","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRICKLE1 were changed from  to Epilepsy, progressive myoclonic 1B, MIM# 612437","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-21T13:50:09.683405+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2079","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRICKLE1 were set to ","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-21T13:49:26.140563+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2078","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRICKLE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2023-12-21T13:48:27.618672+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2077","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP3CA as ready","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2023-12-21T13:48:27.608467+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2077","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp3ca has been classified as Green List (High Evidence).","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2023-12-21T13:48:14.322578+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2077","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPP3CA were set to ","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2023-12-21T13:47:44.295389+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2076","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP3CA were changed from Developmental and epileptic encephalopathy 91, MIM#617711 to Developmental and epileptic encephalopathy 91, MIM#617711","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2023-12-21T13:47:16.671697+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2075","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPP3CA were changed from  to Developmental and epileptic encephalopathy 91, MIM#617711","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2023-12-21T13:46:47.588126+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2075","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PPP3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PPP3CA","entity_type":"gene"},{"created":"2023-12-21T13:45:48.189195+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2074","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPT1 as ready","entity_name":"PPT1","entity_type":"gene"},{"created":"2023-12-21T13:45:48.176659+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2074","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppt1 has been classified as Green List (High Evidence).","entity_name":"PPT1","entity_type":"gene"},{"created":"2023-12-21T13:45:40.593084+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2074","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPT1 were changed from  to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; MONDO:0009744","entity_name":"PPT1","entity_type":"gene"},{"created":"2023-12-21T13:42:14.602627+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2073","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPT1 were set to ","entity_name":"PPT1","entity_type":"gene"},{"created":"2023-12-21T13:39:42.053353+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2072","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PPT1","entity_type":"gene"},{"created":"2023-12-21T13:39:04.140462+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2071","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association. Variable age of onset and severity.; to: Well established gene-disease association. Variable age of onset and severity Seizures are part of the phenotype.","entity_name":"PPT1","entity_type":"gene"},{"created":"2023-12-21T13:35:37.743151+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2071","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Lee et al (2020 - PMID: 32703943) provide evidence that Armfield X-Linked intellectual disability syndrome is caused by monoallelic FAM50A pathogenic variants. The current review is based only on this reference. The authors provide clinical details on 6 affected individuals from 5 families. Features included postnatal growth delay, DD and ID (6/6 - also evident for those without formal IQ assesment), seizures (3/6 from 2 families), prominent forehead with presence of other facial features and variable head circumference (5th to >97th %le), ocular anomalies (5/6 - strabismus/nystagmus/Axenfeld-Rieger), cardiac (3/6 - ASD/Fallot) and genitourinary anomalies (3/6). In the first of these families (Armfield et al 1999 - PMID: 10398235), linkage analysis followed by additional studies (Sanger, NGS of 718 genes on chrX, X-exome NGS - several refs provided) allowed the identification of a FAM50A variant. Variants in other families were identified by singleton (1 fam) or trio-ES (3 fam). In affected individuals from 3 families, the variant had occurred de novo. Carrier females in the other families were unaffected (based on pedigrees and/or the original publication). XCI was rather biased in most obligate carrier females from the 1st family (although this ranged from 95:5 to 60:40). Missense variants were reported in all affected subjects incl. Trp206Gly, Asp255Gly, Asp255Asn (dn), Glu254Gly (dn), Arg273Trp (dn) (NM_004699.3). Previous studies have demonstrated that FAM50A has ubiquitous expression in human fetal and adult tissues (incl. brain in fetal ones). Immunostaining suggests a nuclear localization for the protein (NIH/3T3 cells). Comparison of protein levels in LCLs from affected males and controls did not demonstrate significant differences. Protein localization for 3 variants (transfection of COS-7 cells) was shown to be similar to wt. Complementation studies in zebrafish provided evidence that the identified variants confer partial loss of function (rescue of the morpholino phenotype with co-injection of wt but not mt mRNA). The zebrafish ko model seemed to recapitulate the abnormal development of cephalic structures and was indicative of diminished/defective neurogenesis. Transcriptional dysregulation was demonstrated in zebrafish (altered levels and mis-splicing). Upregulation of spliceosome effectors was demonstrated in ko zebrafish. Similarly, mRNA expression and splicing defects were demonstrated in LCLs from affected individuals. FAM50A pulldown followed by mass spectrometry in transfected HEK293T cells demonstrated enrichment of binding proteins involved in RNA processing and co-immunoprecipitation assays (transfected U-87 cells) suggested that FAM50A interacts with spliceosome U5 and C-complex proteins. Overall aberrant spliceosome C-complex function is suggested as the underlying pathogenetic mechanism. Several other neurodevelopmental syndromes are caused by variants in genes encoding C-complex affiliated proteins (incl. EFTUD2, EIF4A3, THOC2, etc.). \nSources: Literature; to: Lee et al (2020 - PMID: 32703943) 6 affected individuals from 5 families.\r\n\r\nSeizures in 3/6 from 2 families.\r\n","entity_name":"FAM50A","entity_type":"gene"},{"created":"2023-12-21T13:34:44.478709+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2071","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FAM50A: Changed rating: AMBER","entity_name":"FAM50A","entity_type":"gene"},{"created":"2023-12-21T13:33:12.452359+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2071","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNRNPK as ready","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2023-12-21T13:33:12.443603+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2071","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpk has been classified as Amber List (Moderate Evidence).","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2023-12-21T13:33:06.777926+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2071","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HNRNPK as Amber List (moderate evidence)","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2023-12-21T13:33:06.765490+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2071","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnrnpk has been classified as Amber List (Moderate Evidence).","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2023-12-21T13:32:28.730050+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2070","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HNRNPK was added\ngene: HNRNPK was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPK were set to 30998304; 26173930; 29904177; 26954065; 28771707\nPhenotypes for gene: HNRNPK were set to Au-Kline syndrome MIM#616580\nReview for gene: HNRNPK was set to AMBER\nAdded comment: Seizures are reported in a minority of individuals affected by Au-Kline syndrome. \nSources: Expert list","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2023-12-21T13:23:55.638542+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2069","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HIVEP2 as ready","entity_name":"HIVEP2","entity_type":"gene"},{"created":"2023-12-21T13:23:55.619837+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2069","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hivep2 has been classified as Green List (High Evidence).","entity_name":"HIVEP2","entity_type":"gene"},{"created":"2023-12-21T13:23:44.895673+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2069","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HIVEP2 as Green List (high evidence)","entity_name":"HIVEP2","entity_type":"gene"},{"created":"2023-12-21T13:23:44.884409+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2069","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hivep2 has been classified as Green List (High Evidence).","entity_name":"HIVEP2","entity_type":"gene"},{"created":"2023-12-21T13:23:07.603847+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2068","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HIVEP2 was added\ngene: HIVEP2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HIVEP2 were set to 27003583\nPhenotypes for gene: HIVEP2 were set to Intellectual developmental disorder, autosomal dominant 43, MIM#\t616977\nReview for gene: HIVEP2 was set to GREEN\nAdded comment: Seizures reported in at least 3 affected individuals. \nSources: Expert list","entity_name":"HIVEP2","entity_type":"gene"},{"created":"2023-12-21T13:20:06.320135+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2067","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HDAC8 as ready","entity_name":"HDAC8","entity_type":"gene"},{"created":"2023-12-21T13:20:06.301785+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2067","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac8 has been classified as Amber List (Moderate Evidence).","entity_name":"HDAC8","entity_type":"gene"},{"created":"2023-12-21T13:19:56.497525+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2067","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HDAC8 as Amber List (moderate evidence)","entity_name":"HDAC8","entity_type":"gene"},{"created":"2023-12-21T13:19:56.488064+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2067","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac8 has been classified as Amber List (Moderate Evidence).","entity_name":"HDAC8","entity_type":"gene"}]}