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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=478",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=476",
"results": [
{
"created": "2024-03-26T11:32:00.571281+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.207",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: AMOTL1 as Green List (high evidence)",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2024-03-26T11:32:00.554395+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.207",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: amotl1 has been classified as Green List (High Evidence).",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2024-03-26T11:31:57.381334+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.207",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: AMOTL1 as Green List (high evidence)",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2024-03-26T11:31:57.367479+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.207",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: amotl1 has been classified as Green List (High Evidence).",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2024-03-26T11:31:42.452660+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.206",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: AMOTL1 was added\ngene: AMOTL1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AMOTL1 were set to 36751037\nPhenotypes for gene: AMOTL1 were set to Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related\nReview for gene: AMOTL1 was set to GREEN\ngene: AMOTL1 was marked as current diagnostic\nAdded comment: PMID: 36751037- 16 individuals from 12 families with orofacial clefting syndrome and het variants in AMOTL1. Many in 1 hotspot: 5 individuals from 3 families have R157C, 6 individuals from another 4 families have R157H, 1 has P160L, and another has Q161R. Out of this hostpaot- 1 with P368A, 1 with E507K, 1 with E579K. 7 are de novo. All but 2 have clefting, 7 are dysmorphic, 5 have hearing loss, 9 have CHD, 7 have tall stature, 6 have dev delay. Other features include liver disease, myopia, scoliosis and immune involvement.\r\n\r\nAnother 2 families have been previously reported (described in the panelapp review below) with variants in this hotspot 1 has 2 individuals with R157C, the other has 1 individual with P160L. All hotspot are absent from gnomad v2. \nSources: Literature",
"entity_name": "AMOTL1",
"entity_type": "gene"
},
{
"created": "2024-03-26T11:25:14.313175+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.205",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: AL117258.1 as ready",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2024-03-26T11:25:14.297811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.205",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: al117258.1 has been classified as Green List (High Evidence).",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2024-03-26T11:25:08.882733+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.205",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: AL117258.1 as Green List (high evidence)",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2024-03-26T11:25:08.868435+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.205",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: al117258.1 has been classified as Green List (High Evidence).",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2024-03-26T11:13:58.706150+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.204",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: AL117258.1 was added\ngene: AL117258.1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: AL117258.1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AL117258.1 were set to 34903892\nPhenotypes for gene: AL117258.1 were set to Heterotaxy; congenital heart defects\nReview for gene: AL117258.1 was set to GREEN\ngene: AL117258.1 was marked as current diagnostic\nAdded comment: Gene also known as CIROP and LMLN2\r\n\r\nHomozygous or compound heterozygous CIROP variants identified in 12 families with congenital heart defects associated with heterotaxy.\r\n\r\nFunctional tests performed on Xenopus and zebrafish embryos showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers.\r\nSources: Literature \nSources: Literature",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:42:28.071522+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12 as ready",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:42:28.048364+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:42:21.617246+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED12 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:41:53.210929+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:41:29.953518+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED12 were set to 33244166; 32174975; 30006928; 27312080; 33244166",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:40:41.137281+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED12 were set to ",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-03-25T15:40:19.631734+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:16:32.349000+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECP2 as ready",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:16:32.341001+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecp2 has been classified as Green List (High Evidence).",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:16:28.558656+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055; Encephalopathy, neonatal severe, MIM# 300673",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:15:43.101806+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MECP2 were set to ",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:15:07.207369+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MECP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:14:18.485956+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBOAT7 as ready",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:14:18.477449+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mboat7 has been classified as Green List (High Evidence).",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:14:11.109549+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MBOAT7 were changed from to intellectual disability MIM#617188",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:13:32.050433+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MBOAT7 were set to ",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:13:00.644056+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MBOAT7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:08:45.495003+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ11 as ready",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:08:45.481971+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj11 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:08:40.866409+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ11 were changed from to Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:08:09.117516+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ11 were set to ",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:07:36.897287+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:04:28.157405+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC1H1 as ready",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:04:28.145508+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync1h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:04:24.755315+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC1H1 were changed from to Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:03:52.689101+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC1H1 were set to ",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:03:15.544037+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2024-03-24T18:02:36.554928+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DYNC1H1: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563",
"entity_name": "DYNC1H1",
"entity_type": "gene"
},
{
"created": "2024-03-22T16:39:09.226612+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADPRHL2 as Amber List (moderate evidence)",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2024-03-22T16:39:09.212280+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adprhl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2024-03-22T16:38:57.322782+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.\r\n\r\nNew HGNC approved name is ADPRS.; to: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.\r\n\r\nNew HGNC approved name is ADPRS.\r\n\r\nTo be upgraded to GREEN in next version of panel.",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2024-03-22T16:38:38.286959+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADPRHL2: Changed rating: AMBER",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:33:31.796265+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP2K2 as ready",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:33:31.788134+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k2 has been classified as Green List (High Evidence).",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:33:28.931871+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP2K2 were changed from to Cardiofaciocutaneous syndrome 4, MIM# 615280",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:32:48.625599+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP2K2 were set to ",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:32:12.809491+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MAP2K2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:31:42.603860+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP2K2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:30:51.737481+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP2K1 as ready",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:30:51.729625+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k1 has been classified as Green List (High Evidence).",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:30:48.259908+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP2K1 were changed from to Cardiofaciocutaneous syndrome 3, MIM# 615279",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:30:14.972023+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP2K1 were set to ",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:29:41.089707+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MAP2K1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:29:12.880412+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP2K1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:25:34.177798+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAF as ready",
"entity_name": "MAF",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:25:34.166796+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: maf has been classified as Green List (High Evidence).",
"entity_name": "MAF",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:25:23.529163+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAF were changed from to Ayme-Gripp syndrome (MIM#601088)",
"entity_name": "MAF",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:23:57.615302+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAF were set to ",
"entity_name": "MAF",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:23:12.672413+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAF",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:21:31.831646+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1A as ready",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:21:31.823580+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1a has been classified as Green List (High Evidence).",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:21:21.917380+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1A were changed from to NESCAV syndrome, MIM# 614255",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:20:43.042996+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF1A were set to ",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:20:05.872132+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:19:33.194353+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs. At least 4 families reported, although 3 shared same founder variant.\r\n\r\nDe novo variants in this gene are also more commonly associated with spastic paraplegia, and a complex neurodevelopmental disorder, NESCAV syndrome.; to: De novo variants in this gene are also more commonly associated with spastic paraplegia, and a complex neurodevelopmental disorder, NESCAV syndrome, which can include seizures.",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:19:11.425800+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF1A: Changed phenotypes: NESCAV syndrome, MIM# 614255; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:18:10.006054+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1109 as ready",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:18:09.994333+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1109 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:18:07.077224+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1109 were changed from to lkuraya-Kucinskas syndrome, MIM# 617822",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:17:29.302593+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA1109 were set to ",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:16:56.697429+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:14:54.244287+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCTD7 as ready",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:14:54.234200+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd7 has been classified as Green List (High Evidence).",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:14:49.431468+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726), AR",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:14:16.375143+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCTD7 were set to ",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:13:23.053769+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCTD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:08:09.625602+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITPA as ready",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:08:09.615651+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpa has been classified as Green List (High Evidence).",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:08:04.878399+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPA were changed from to Developmental and epileptic encephalopathy 35, MIM# 616647",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:07:25.245285+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPA were set to ",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:06:48.581638+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:05:16.378235+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKG as ready",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:05:16.367900+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:05:00.384464+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, MIM# 308300",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:04:27.022501+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IKBKG were set to ",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:03:55.524386+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:03:17.421157+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature. 6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).\r\n\r\nNote variants in this gene are associated with immunodeficiency +/- ectodermal features and with IP.; to: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature. 6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).\r\n\r\nNote variants in this gene are associated with immunodeficiency +/- ectodermal features and with IP.\r\n\r\nSeizures reported in the IP phenotype.",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:01:42.792782+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFIH1 as ready",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:01:42.782685+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifih1 has been classified as Green List (High Evidence).",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2024-03-22T15:01:39.302250+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFIH1 were changed from to Aicardi-Goutieres syndrome 7, MIM#615846",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:57:51.726170+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFIH1 were set to ",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:52:51.609655+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: IFIH1 was changed from to Other",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:52:22.583742+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFIH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:50:10.598317+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDH2 as ready",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:50:10.587199+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idh2 has been classified as Green List (High Evidence).",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:49:59.171074+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDH2 were changed from to D-2-hydroxyglutaric aciduria 2, MIM# 613657",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:49:14.715891+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IDH2 were set to ",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:48:36.707427+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IDH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:47:39.200020+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HTRA2 as ready",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2024-03-22T14:47:39.186532+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htra2 has been classified as Green List (High Evidence).",
"entity_name": "HTRA2",
"entity_type": "gene"
}
]
}