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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=504",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=502",
"results": [
{
"created": "2023-12-21T13:17:22.245913+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HDAC8 was added\ngene: HDAC8 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome 5, MIM# 300882\nReview for gene: HDAC8 was set to AMBER\nAdded comment: Seizures reported in 25% of individuals with CdL though what proportion of individuals with HDAC8-related disease have seizures is uncertain. \nSources: Expert list",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2023-12-21T09:20:16.701718+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFG3L2 as ready",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-12-21T09:20:16.692533+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Green List (High Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-12-21T09:19:10.654825+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977 to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-12-21T09:17:45.715251+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-12-21T09:16:57.901585+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFG3L2 were set to ",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-12-21T09:15:26.677025+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AFG3L2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:33:33.047542+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIA1 as ready",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:33:32.984587+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gria1 has been classified as Red List (Low Evidence).",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:33:19.498940+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIA1 was added\ngene: GRIA1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: GRIA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GRIA1 were set to 35675825\nPhenotypes for gene: GRIA1 were set to Intellectual developmental disorder, autosomal dominant 67, MIM# 619927; Intellectual developmental disorder, autosomal recessive 76, MIM# 619931\nReview for gene: GRIA1 was set to RED\nAdded comment: RED/AMBER for the bi-allelic association: single family reported.\r\n\r\nRecurrent missense for the mono-allelic association. However phenotype was predominantly ID. Seizures in one individual only. \nSources: Expert list",
"entity_name": "GRIA1",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:28:50.386067+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPT2 were changed from Mental retardation, autosomal recessive 49, 616281 (3) to Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:28:23.019475+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPT2 were changed from Mental retardation, autosomal recessive 49 MIM#616281 to Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:27:47.641608+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": "Phenotypes for gene: GPT2 were changed from Mental retardation, autosomal recessive 49, MIM#616281 to Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:27:02.768107+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPT2 were changed from Mental retardation, autosomal recessive 49, MIM#616281 to Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:26:27.395423+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GPT2: Changed phenotypes: Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:26:05.668020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPT2 were changed from Mental retardation, autosomal recessive 49, MIM#616281 to Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:25:12.481663+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPT2 as ready",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:25:12.471219+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpt2 has been classified as Green List (High Evidence).",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:25:06.138930+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPT2 as Green List (high evidence)",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:25:06.125060+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpt2 has been classified as Green List (High Evidence).",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:24:27.535289+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPT2 was added\ngene: GPT2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPT2 were set to 27601654; 25758935; 31471722\nPhenotypes for gene: GPT2 were set to Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281\nReview for gene: GPT2 was set to GREEN\nAdded comment: 10 families reported. Typically presents with ID, HSP and microcephaly but seizures reported in some. \nSources: Expert list",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:23:08.172544+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GPT2: Added comment: 10 families reported.; Changed publications: 27601654, 25758935, 31471722",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:22:06.628701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GPT2: Changed phenotypes: Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:19:22.453837+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPSM2 as ready",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:19:22.445738+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpsm2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:19:09.360371+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPSM2 as Amber List (moderate evidence)",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:19:09.315777+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpsm2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2023-12-20T17:17:33.968402+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPSM2 was added\ngene: GPSM2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPSM2 were set to 20602914; 22578326; 28387217; 27180139; 27064331\nPhenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome, MIM# 604213\nReview for gene: GPSM2 was set to AMBER\nAdded comment: Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia/PMG. Some individuals have hydrocephalus. Development is generally normal. Over 10 families reported, supportive functional data.\r\n\r\nSeizures reported but rare. \nSources: Expert list",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2023-12-20T15:57:05.708515+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: NAGA: Rating: RED; Mode of pathogenicity: None; Publications: 8782044, 31468281, 15619430, 31890708, 11313741; Phenotypes: Kanzaki disease, MIM# 609242, Schindler disease, type I and type II 609241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2023-12-20T15:33:31.773693+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: NR2F1 was added\ngene: NR2F1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NR2F1 were set to 32275123\nPhenotypes for gene: NR2F1 were set to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722\nReview for gene: NR2F1 was set to GREEN\nAdded comment: PMID: 32275123 \r\n- Cohort of 54 individuals with a deletion of or likely pathogenic variant in NR2F1, including previously published individuals with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS). \r\n-24/46 (52%) individuals described with seizures, some of which include infantile spasms. \r\n- Rech et al. (2020) also described that mutations in the DBD were associated with a higher prevalence of motor delay, the inability to walk unassisted, the absence of speech, seizures, and sensitivity to touch compared to other types of mutations. \nSources: Literature",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2023-12-20T15:29:17.283787+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: Seizures occur in about 5% of individuals with NF1, with a slightly higher prevalence in adults than in children (PMIDs: 32613422, 34944956).\r\n\r\nPMID: 34944956 - Cohort of NF1 patients; Epilepsy was reported in 37/784 cases. 24/37 individuals with NF1 and epilepsy had an NF1 mutation, 1 individual was negative (NGS+MLPA), remaining 12 individuals were not tested. \nSources: Literature; to: Seizures occur in about 5% of individuals with NF1, with a slightly higher prevalence in adults than in children (PMIDs: 32613422, 34944956, GeneReviews).\r\n\r\nPMID: 34944956 - Cohort of NF1 patients; Epilepsy was reported in 37/784 cases. 24/37 individuals with NF1 and epilepsy had an NF1 mutation, 1 individual was negative (NGS+MLPA), remaining 12 individuals were not tested. \r\nSources: Literature",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2023-12-20T15:28:53.127049+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: NF1 was added\ngene: NF1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NF1 were set to 34944956\nPhenotypes for gene: NF1 were set to Neurofibromatosis, type 1 (MIM#162200)\nReview for gene: NF1 was set to RED\nAdded comment: Seizures occur in about 5% of individuals with NF1, with a slightly higher prevalence in adults than in children (PMIDs: 32613422, 34944956).\r\n\r\nPMID: 34944956 - Cohort of NF1 patients; Epilepsy was reported in 37/784 cases. 24/37 individuals with NF1 and epilepsy had an NF1 mutation, 1 individual was negative (NGS+MLPA), remaining 12 individuals were not tested. \nSources: Literature",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2023-12-20T15:18:11.653688+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: NALCN was added\ngene: NALCN was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NALCN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NALCN were set to 30167850\nPhenotypes for gene: NALCN were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)\nReview for gene: NALCN was set to GREEN\nAdded comment: PMID: 30167850 \r\n– Cohort of individuals with novel NALCN or UNC80 variants; includes 16 individuals with biallelic NALCN variants and 1 individual with a de novo NALCN variant. \r\n- All individuals (16/16) with biallelic NALCN variants presented with neonatal hypotonia, failure to thrive, ID, and muscular hypotonia. Other clinical features include severe ID (14/16), nonverbal (14/16), non-walking (13/16), chronic constipation (14/16), extrapyramidal/abnormal movements (12/16), strabismus (12/16), sleeping difficulties (10/16), increased tendency to infections (9/16), and some individuals presented with seizures (7/16).\r\n- Table 1 describes clinical features of individuals with biallelic NALCN variants, showing 13/19 previously published individuals also had seizures. \nSources: Literature",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2023-12-20T14:43:39.115835+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: MCM3AP was added\ngene: MCM3AP was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM3AP were set to 32202298\nPhenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM#618124)\nReview for gene: MCM3AP was set to RED\nAdded comment: - 2 families with probands compound heterozygous for variants in MCM3AP and a phenotype consistent with peripheral neuropathy with or without impaired intellectual development (MIM#618124). \r\n- Two siblings from one family have severe generalised epilepsy and mild spastic diplegia. \r\n- Functional studies using skin fibroblasts from these and other affected patients showed that disease variants result in depletion of GANP (encoded by MCM3AP) except when they alter critical residues in the Sac3 mRNA binding domain. GANP depletion was associated with more severe phenotypes compared with the Sac3 variants. \nSources: Literature",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2023-12-20T12:54:51.867804+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: LRPPRC was added\ngene: LRPPRC was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRPPRC were set to 21266382; 26510951; 38046674; 29152527\nPhenotypes for gene: LRPPRC were set to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) (MIM#220111)\nReview for gene: LRPPRC was set to AMBER\nAdded comment: PMID: 21266382 \r\n- Cohort of patients with French-Canadian Leigh disease (MIM#220111). 55 of 56 patients were homozygous for the A354V mutation in LRPPRC. \r\n- Condition is distinct for metabolic crises. 6/44 affected patients experienced seizures. \r\n- During presentation of metabolic crises, 5 patients presented seizures. During neurological crises, 9 patients presented seizures. \r\n- 10 patients were living at the time of the study and have had a stable clinical course (since puberty), with mild ID and seizures (3/6 patients). \r\n\r\nPMID: 26510951 \r\n- 10 individuals (7 unrelated families) with recessive LRPPRC variants (identified via WES and candidate gene sequencing) with phenotypes resembling French-Canadian Leigh syndrome patients. \r\n- 1/10 patients compound heterozygous for premature termination variants, experienced several brief generalised seizures and developed a severe encephalopathy and persistent metabolic acidosis.\r\n- Functional characterisation of patients' fibroblasts and skeletal muscle homogenates (homozygous p.Arg1276_Lys1300del and compound heterozygous p.Glu497*; p.Gly1050Argfs*4 individuals) showed decreased levels of mutant LRPPRC protein and impaired Complex IV enzyme activity, associated with abnormal COX assembly and reduced steady-state levels of numerous oxidative phosphorylation subunits.\r\n\r\nPMID: 38046674 \r\n- Case report; 1 individual with novel homozygous splice donor variant (c.469+2T>A) in LRPPRC causing Leigh syndrome with epilepsy. Parents are consanguineous and are unaffected carriers. The affected child had intrauterine developmental delays, absence of the corpus callosum and was suspected of exhibiting neurodevelopmental disorder, specifically experiencing seizures.\r\n\r\nPMID: 29152527 \r\n- 1 individual with novel compound heterozygous missense variants with mild French-Canadian Type Leigh Syndrome. Developed refractory multifocal epilepsy at 3 years of age requiring multiple antiepileptics and ketogenic diet to control his seizures. \nSources: Literature",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2023-12-20T12:39:20.720164+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: LMNB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32910914, 33033404; Phenotypes: Microcephaly 26, primary, autosomal dominant (MIM#619179); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2023-12-20T12:30:19.934530+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36055214; Phenotypes: Mitochondrial disease MONDO#0044970, LETM1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2023-12-20T12:29:14.448500+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: PEX10 was added\ngene: PEX10 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX10 were set to 32069232\nPhenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), MIM#614870\nReview for gene: PEX10 was set to RED\nAdded comment: PMID: 32069232: A case report of a 4 month old boy with Zellweger syndrome, with myoclonic seizures, hypotonia and hepatosplenomegaly, who was homozygous for a p.(C296F) variant. \nSources: Literature",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2023-12-20T12:26:02.466241+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: PCLO was added\ngene: PCLO was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCLO were set to 25832664; 32122952\nPhenotypes for gene: PCLO were set to Pontocerebellar hypoplasia, type 3, MIM#608027\nReview for gene: PCLO was set to RED\nAdded comment: PMID: 25832664: Seizures are part of the phenotype, but a single consanguineous family reported with bi-allelic variant in this gene.\r\n\r\nPMID: 32122952: Knockout PCLO rats had a smaller cerebral cortex, a reduced volume of the cerebellum and pons, as well as impaired motor control and the presence of seizures BUT they don’t talk about seizures in the results, only introduction and discussion \nSources: Literature",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2023-12-20T12:21:12.825141+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: PEX13 was added\ngene: PEX13 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX13 were set to 19449432; 37962062; 34055681; 37962062; 30919572; 33547378; 35854306\nPhenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger)\nReview for gene: PEX13 was set to GREEN\nAdded comment: PMID: 19449432: 2x unrelated Saudi children of consanguineous parents with Zellweger syndrome. Both children had seizures alongside other features of Zellweger and died young. One patient had a homozygous deletion (147,308 bp) encompassing the entire PEX3 gene and the other had a homozygous p.(G36DfsX61) variant.\r\n\r\nPMID: 37962062: A consanguineous patient had severe hypotonia, seizures, hepatic dysfunction, failure to thrive, and dysmorphic features. They had a homozygous p.(Ala165Pro) variant and died at 14 months.\r\n\r\nPMID: 34055681: An individual with global developmental delay, focal seizures, peritrigonal white matter disease and thinning corpus callosum with a homozygous p.(Met1Val) variant.\r\n\r\nPMID: 37962062: 1x individual with hypotonia, seizures, developmental delay and suspicious abnormal signal in the bilateral basal ganglia with a homozygous p.(A165P) variant.\r\n\r\nPMID: 30919572: 1x individual with developmental delay and seizures, cerebral atrophy and white matter volume loss. Homozygous for a p.(G23R) variant.\r\n\r\nPMID: 33547378: 1x individual with a homozygous p.(K177del) variant with motor regression, seizure at 2 months, digestive problems, hypotonia, hypodontia, abnormal white matter and demyelination. \r\n\r\nPMID: 35854306: 1x individual with a homozygous p.(W313*) variant with phycomotor delay, motor impairments, intellectual disability, language impairment and seizures, cortical malformations. \nSources: Literature",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2023-12-20T12:06:32.339489+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: PAX6 was added\ngene: PAX6 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PAX6 were set to 34200146; 17417613; 12731001\nPhenotypes for gene: PAX6 were set to Aniridia (MIM#106210)\nReview for gene: PAX6 was set to AMBER\nAdded comment: PMID: 34200146: A case report of 1x male born with anophthalmia, who underwent hypoglycemic seizures starting at 5 months old, and showed a prediabetic condition at 60 months. They were heterozygous for a p.(S63C) variant.\r\n\r\nPMID: 17417613: in a cohort of 78 individuals affected by aniridia; those with diverse ocular manifestations; and those with Peters' anomaly, and unaffected relatives. 1 large family with congenital ocular abnormalities, 14/36 had a PAX6 p.(S74G) variant. Most affected patients of this family had minor or major bilateral foveal hypoplasia. At least four individuals of this family had epilepsy, while others displayed variable neurological deficits along with severe cognitive deficiencies. \r\n\r\nPMID: 12731001: In a cohort of 24 individuals with ocular abnormalities and defined PAX6 variants, 4x individuals with a single or recurrent unprovoked seizures. 1x individual had isolated unilateral polymicrogyria with a C-terminal extension, gave a history of frequent complex partial seizures compatible with temporal lobe epilepsy. Variant was inherited from mother who had a subtle gyral abnormality of the left temporal lobe, most probably polymicrogyria but she did not give a history of seizure. For the other patients it is not clear which are associated with the epilepsy patients. \nSources: Literature",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2023-12-20T11:56:09.783657+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: PAK3 was added\ngene: PAK3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PAK3 were set to 17853471; 12884430; 29246092; 25666757\nPhenotypes for gene: PAK3 were set to Intellectual developmental disorder, X-linked 30 (MIM#300558)\nReview for gene: PAK3 was set to AMBER\nAdded comment: PMID: 17853471: Report of 1 family with intellectual disability (5 affected males and 4 carrier females), EEG was reported for 4 affected males and 1 carrier female; only one had epilepsy, another individual had one seizure but no epileptic discharges on EEG. The familial variant in affected males and carrier females was p.(W446S).\r\n\r\nPMID: 12884430: In an Australian multigenerational family with mild to borderline non-syndromic X-linked intellectual disability, 1/13 affected males had myoclonic epilepsy. The familial variant in affected males and carrier females was p.(A365E) determined via linkage analysis.\r\n\r\nPMID: 29246092: A case report of one individual with intellectual disability, severe auto-mutilation and epilepsy had a p.(Ser527Gly) variant.\r\n\r\nPMID: 25666757: In a cohort of 183 individuals with cerebral palsy, 1 male individual had hemiplegic cerebral palsy and epilepsy and showed cognitive abilities in the upper limit of the low average range. They had a PAK3 p.(R493C) variant. \nSources: Literature",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2023-12-20T11:51:37.640858+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: OFD1 was added\ngene: OFD1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: OFD1 were set to 23033313; 31373179\nPhenotypes for gene: OFD1 were set to Orofaciodigital syndrome I (MIM#311200)\nReview for gene: OFD1 was set to AMBER\nAdded comment: PMID: 23033313: Cohort of 25 with OFD1 variants with orofaciodigital syndrome I. 4/25 had epilepsy. One female individual had a p.(His50Alafs*2) variant, the other variants it is not clear which were associated with the epilepsy patients.\r\n\r\nPMID: 31373179: In a cohort of 3 males with primary ciliary dyskinesia, 1 individual had seizures, dysmorphic features, intellectual disability, minimally verbal and minimally able to ambulate, chronic cerebral atrophy, hypotonia, and apnea. He had a de novo hemizygous p.(Glu995*) variant. \nSources: Literature",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:24:27.883434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381; MONDO:0014157 to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381; MONDO:0014157; Combined immunodeficiency, MONDO:0015131, POLD1-related",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:23:50.124334+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLD1 were set to 31629014",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:23:38.332875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLD1 were set to 23770608; 33618333; 33369179; 32826474; 30023403; 29199204; 28791128",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:22:40.162961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:22:17.100521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLD1: Added comment: Association with combined immunodeficiency: Three individuals from two generations of a consanguineous family reported, some functional data. Another unrelated individual reported in PMID 31449058, more functional data. Third family identified in Melbourne, two affected sibs, compound het variants and combined immunodeficiency.; Changed phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381, MONDO:0014157, Combined immunodeficiency, MONDO:0015131, POLD1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:21:18.304771+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLD1 were changed from Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability to Combined immunodeficiency, MONDO:0015131, POLD1-related; Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:20:18.646392+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLD1 as Green List (high evidence)",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:20:18.599179+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pold1 has been classified as Green List (High Evidence).",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2023-12-19T17:19:38.377222+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLD1: Added comment: Another family identified in Melbourne: two affected siblings with compound heterozygous variants and combined immunodeficiency.; Changed rating: GREEN",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2023-12-19T15:23:03.769829+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: PTCH1 as ready",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-12-19T15:23:03.756550+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Red List (Low Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-12-19T15:21:44.097485+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: PTCH1 as Red List (low evidence)",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-12-19T15:21:44.082223+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2060",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Red List (Low Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-12-19T14:42:35.904748+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2059",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PTCH1 was added\ngene: PTCH1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTCH1 were set to 11941477; 17001668; 29575684; 36171624\nPhenotypes for gene: PTCH1 were set to Holoprosencephaly 7, MIM# 610828\nReview for gene: PTCH1 was set to RED\nAdded comment: Currently red for this panel.\r\n\r\nPMID: 11941477 - In a female with holoprosencephaly, seizures, and bilateral cleft lip, a heterozygous c.2467A>G variant was identified in the PTCH gene. However, this variant is classified as benign in ClinVar.\r\n\r\nPMID: 36171624 - A 10-month-old Chinese female patient with mobility disorders on the right limbs and recurrent seizures. Epidermal nevus syndrome was diagnosed, the patient also has a de novo mutation (c.109G > T) in PTCH1 gene and cerebral infarction. \nSources: Literature",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:52:03.592049+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTU2 as ready",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:52:03.583189+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctu2 has been classified as Green List (High Evidence).",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:45:06.763023+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTU2 as Green List (high evidence)",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:45:06.750005+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctu2 has been classified as Green List (High Evidence).",
"entity_name": "CTU2",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:44:09.665929+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP27A1 as ready",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:44:09.655576+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:44:00.822714+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP27A1 as Green List (high evidence)",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:44:00.808481+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:42:52.040206+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAG1 as ready",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:42:52.028466+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dag1 has been classified as Red List (Low Evidence).",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:42:44.210723+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DAG1 as Red List (low evidence)",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:42:44.200097+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dag1 has been classified as Red List (Low Evidence).",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:42:16.252040+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DAG1 as Red List (low evidence)",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:42:16.222301+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dag1 has been classified as Red List (Low Evidence).",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:39:53.909733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LCK as Green List (high evidence)",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:39:53.891797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lck has been classified as Green List (High Evidence).",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:39:32.030622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LCK: Added comment: Additional cases:\r\nPMID 38100037: Description of a second unrelated patient with novel biallelic missense LCK c.1393T>C, p.C465R variant in a patient from a consanguineous Syrian family with profound T-cell immune deficiency characterized by complete LCK protein expression deficiency and ensuing proximal TCR signaling-and CD4 and CD8-co-receptor-mediated functional and phenotypical defects.\r\n\r\nPMID: 27087313 reported 3 siblings of a consanguineous family presenting with recurrent pneumonia and severe viral skin disease leading to malignant transformation. The patients had an intronic LCK c.188-2A>G splice site variant resulting in skipping of exon 3 and mRNA decay. Clinical data alongside with CD4+ T-cell lymphocytopenia suggested a hypomorphic LCK deficiency.; Changed rating: GREEN; Changed publications: 22985903, 1579166, 11021796, 27087313, 38100037",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:39:07.767433+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LCK were set to 22985903; 1579166; 11021796",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:38:19.706127+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LCK as Green List (high evidence)",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:38:19.693997+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lck has been classified as Green List (High Evidence).",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:19:22.307522+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAP1GDS1 were changed from Intellectual disability; dysmorphic features to Alfadhel syndrome, MIM# 620655",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:18:42.991058+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAP1GDS1: Changed phenotypes: Alfadhel syndrome, MIM# 620655",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:18:21.605029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAP1GDS1 were changed from Intellectual disability; dysmorphic features to Alfadhel syndrome, MIM# 620655",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:17:54.452952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAP1GDS1: Changed phenotypes: Alfadhel syndrome, MIM# 620655",
"entity_name": "RAP1GDS1",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:16:46.836322+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASP2 were changed from neurodevelopmental disorder MONDO:0700092, CASP2-related to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:16:32.204146+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CASP2: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:16:09.861061+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASP2 were changed from neurodevelopmental disorder MONDO:0700092, CASP2-related to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:15:34.866039+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:15:11.827894+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASP2 were changed from neurodevelopmental disorder MONDO:0700092, CASP2-related to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:14:50.195191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:14:23.260505+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASP2 were changed from neurodevelopmental disorder MONDO:0700092, CASP2-related to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-12-19T12:13:42.361433+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-12-19T10:52:20.534906+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.54",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: LCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38100037, PMID: 27087313; Phenotypes: Combined Immune deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCK",
"entity_type": "gene"
},
{
"created": "2023-12-19T09:49:08.823138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBFOX1 were changed from Intellectual disability; autism to Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2023-12-19T09:48:33.393881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBFOX1 were set to 24664471",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2023-12-19T09:48:07.446441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBFOX1 as Green List (high evidence)",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2023-12-19T09:48:07.434973+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox1 has been classified as Green List (High Evidence).",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2023-12-19T09:45:30.485093+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBFOX1 as ready",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2023-12-19T09:45:30.470420+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox1 has been classified as Green List (High Evidence).",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2023-12-19T09:44:50.275890+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBFOX1 as Green List (high evidence)",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2023-12-19T09:44:50.257924+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox1 has been classified as Green List (High Evidence).",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2023-12-19T01:27:31.539299+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2055",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: DAG1 was added\ngene: DAG1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAG1 were set to PMID: 24052401; 25934851; 30450679\nPhenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Walker-Warburg syndrome and tectocerebellar dysgraphia\nReview for gene: DAG1 was set to RED\nAdded comment: Only 7 individuals reported with MDDGA9 and none had seizures. MDDGC9 phenotype is related to limb-girdle dystrophy and also has no association with seizures. \nSources: Literature",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2023-12-19T01:10:00.860148+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2055",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP27A1 were set to PMID: 16816916; 20301583; 22658436\nPhenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis\nReview for gene: CYP27A1 was set to GREEN\nAdded comment: PMID: 16816916 - Approximately 50% of CTX patients reported to have seizures in older literature.\r\n\r\nPMID: 20301583 - GeneReviews quotes seizures are present in 33% of cases.\r\n\r\nPMID 22336472, 22658436, 33414089 - Multiple single case reports of individuals with seizures onset earlier in the disease process ranging from 2.5yo to 12yo. \nSources: Literature",
"entity_name": "CYP27A1",
"entity_type": "gene"
}
]
}