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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=579",
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"results": [
{
"created": "2023-07-24T14:32:19.338360+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5270",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GPATCH11 was added\ngene: GPATCH11 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPATCH11 were set to Leber congenital amaurosis and developmental delay\nReview for gene: GPATCH11 was set to GREEN\ngene: GPATCH11 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n3 families with 8 individuals with leber congenital amaurosis, developmental delay, language disorder, and behavioural issues.\r\nGPATCH11 localises to nucleus and basal body of primary cilium (similar to other LCA genes).\r\nBiallelic variants found in GPATCH11 - 1 splice variant common to all 3 families (1 other variant in 3rd family). Splice variant leads to loss of exon 4 (mRNA studies). \r\nMouse models showed i) abnormal rod/cone responses on ERG; ii) decreased outer nuclear layer in retina, and iii) abnormal associate/episodic memory \nSources: Other",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:31:16.879897+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.203",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GPATCH11 as Green List (high evidence)",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:31:16.869804+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.203",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gpatch11 has been classified as Green List (High Evidence).",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:31:11.856256+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.986",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GPATCH11 as Green List (high evidence)",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:31:11.846084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.986",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gpatch11 has been classified as Green List (High Evidence).",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:30:50.424670+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.202",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GPATCH11 was added\ngene: GPATCH11 was added to Syndromic Retinopathy. Sources: Other\nMode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPATCH11 were set to Leber congenital amaurosis and developmental delay\nReview for gene: GPATCH11 was set to GREEN\ngene: GPATCH11 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n3 families with 8 individuals with leber congenital amaurosis, developmental delay, language disorder, and behavioural issues.\r\nGPATCH11 localises to nucleus and basal body of primary cilium (similar to other LCA genes).\r\nBiallelic variants found in GPATCH11 - 1 splice variant common to all 3 families (1 other variant in 3rd family). Splice variant leads to loss of exon 4 (mRNA studies). \r\nMouse models showed i) abnormal rod/cone responses on ERG; ii) decreased outer nuclear layer in retina, and iii) abnormal associate/episodic memory \nSources: Other",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:30:11.505267+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.985",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GPATCH11 was added\ngene: GPATCH11 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPATCH11 were set to Leber congenital amaurosis and developmental delay\nReview for gene: GPATCH11 was set to GREEN\ngene: GPATCH11 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n3 families with 8 individuals with leber congenital amaurosis, developmental delay, language disorder, and behavioural issues.\r\nGPATCH11 localises to nucleus and basal body of primary cilium (similar to other LCA genes).\r\nBiallelic variants found in GPATCH11 - 1 splice variant common to all 3 families (1 other variant in 3rd family). Splice variant leads to loss of exon 4 (mRNA studies). \r\nMouse models showed i) abnormal rod/cone responses on ERG; ii) decreased outer nuclear layer in retina, and iii) abnormal associate/episodic memory \nSources: Other",
"entity_name": "GPATCH11",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:12:25.348584+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1869",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KCNA3 as Green List (high evidence)",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:12:25.306673+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1869",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kcna3 has been classified as Green List (High Evidence).",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:12:01.917918+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1869",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KCNA3 as Green List (high evidence)",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:12:01.908482+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1869",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kcna3 has been classified as Green List (High Evidence).",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:11:35.749460+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5269",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KCNA3 as Green List (high evidence)",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:11:35.699818+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5269",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kcna3 has been classified as Green List (High Evidence).",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:11:33.974125+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1869",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KCNA3 as Green List (high evidence)",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:11:33.959069+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1869",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kcna3 has been classified as Green List (High Evidence).",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:10:29.477748+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5268",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KCNA3 as Green List (high evidence)",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:10:29.467687+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5268",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kcna3 has been classified as Green List (High Evidence).",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:10:28.174748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.984",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KCNA3 as Green List (high evidence)",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:10:28.149890+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.984",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kcna3 has been classified as Green List (High Evidence).",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:10:18.054388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.983",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: KCNA3 as Green List (high evidence)",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:10:18.041923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.983",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: kcna3 has been classified as Green List (High Evidence).",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:08:43.479004+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1868",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: KCNA3 was added\ngene: KCNA3 was added to Genetic Epilepsy. Sources: Other\nMode of inheritance for gene: KCNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNA3 were set to Neurodevelopmental disorder with epilepsy\nReview for gene: KCNA3 was set to GREEN\ngene: KCNA3 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n10 individuals with de novo missense variants in KCNA3 (K+ channel)\r\nVariable electrophysiology studies of effect of variants (5 x LOF, 4 x GOF, 1 no change)\r\nPresentation: abnormal speech development (8/8), ID (6/8), epilepsy (5/8), and ASD (7/8) \nSources: Other",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:08:24.211941+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5267",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: KCNA3 was added\ngene: KCNA3 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: KCNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNA3 were set to Neurodevelopmental disorder\nReview for gene: KCNA3 was set to GREEN\ngene: KCNA3 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n10 individuals with de novo missense variants in KCNA3 (K+ channel)\r\nVariable electrophysiology studies of effect of variants (5 x LOF, 4 x GOF, 1 no change)\r\nPresentation: abnormal speech development (8/8), ID (6/8), epilepsy (5/8), and ASD (7/8) \nSources: Other",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T14:08:14.948510+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.982",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: KCNA3 was added\ngene: KCNA3 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: KCNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNA3 were set to Neurodevelopmental disorder\nReview for gene: KCNA3 was set to GREEN\ngene: KCNA3 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n10 individuals with de novo missense variants in KCNA3 (K+ channel)\r\nVariable electrophysiology studies of effect of variants (5 x LOF, 4 x GOF, 1 no change)\r\nPresentation: abnormal speech development (8/8), ID (6/8), epilepsy (5/8), and ASD (7/8) \nSources: Other",
"entity_name": "KCNA3",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:42:10.068035+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5266",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FSD1L as Green List (high evidence)",
"entity_name": "FSD1L",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:42:10.059009+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5266",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fsd1l has been classified as Green List (High Evidence).",
"entity_name": "FSD1L",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:42:02.434673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.981",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FSD1L as Green List (high evidence)",
"entity_name": "FSD1L",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:42:02.422033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.981",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fsd1l has been classified as Green List (High Evidence).",
"entity_name": "FSD1L",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:41:44.834467+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.980",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FSD1L was added\ngene: FSD1L was added to Mendeliome. Sources: Other\nMode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FSD1L were set to Neurodevelopmental disorder\nReview for gene: FSD1L was set to GREEN\ngene: FSD1L was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n8 families with biallelic missense/nonsense variants\r\nPresentation only described 1 family/2 affecteds with DD, ID, spastic paraparesis, epilepsy, corpus callosum hypoplasia, and optic nerve hypoplasia\r\n\r\nFunctional assays:\r\n-reduced expression of FSD1L in mature neurons (RNA studies)\r\n-very low % mature neurons (neuronal differentiation)\r\n-reduced neuronal migration \nSources: Other",
"entity_name": "FSD1L",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:41:36.035042+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5265",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FSD1L was added\ngene: FSD1L was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FSD1L were set to Neurodevelopmental disorder\nReview for gene: FSD1L was set to GREEN\ngene: FSD1L was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n8 families with biallelic missense/nonsense variants\r\nPresentation only described 1 family/2 affecteds with DD, ID, spastic paraparesis, epilepsy, corpus callosum hypoplasia, and optic nerve hypoplasia\r\n\r\nFunctional assays:\r\n-reduced expression of FSD1L in mature neurons (RNA studies)\r\n-very low % mature neurons (neuronal differentiation)\r\n-reduced neuronal migration \nSources: Other",
"entity_name": "FSD1L",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:13:32.999936+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5264",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DENND5B as Green List (high evidence)",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:13:32.983898+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5264",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dennd5b has been classified as Green List (High Evidence).",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:12:41.712984+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.292",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DENND5B as Green List (high evidence)",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:12:41.702955+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.292",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dennd5b has been classified as Green List (High Evidence).",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:12:35.742975+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.291",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DENND5B as Green List (high evidence)",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:12:35.735670+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.291",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dennd5b has been classified as Green List (High Evidence).",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:12:26.737614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.979",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DENND5B as Green List (high evidence)",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:12:26.727029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.979",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dennd5b has been classified as Green List (High Evidence).",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:12:17.802197+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5263",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DENND5B was added\ngene: DENND5B was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DENND5B were set to Neurodevelopmental disorder with white matter anomalies\nReview for gene: DENND5B was set to GREEN\ngene: DENND5B was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n7 patients/7 families with de novo DENND5B variants (6 missense, 1 splice)\r\nDD/ID (mod/profound)(7/7), white matter anomalies (6/7) hypotonia, epilepsy (3/7)\r\n\r\nDENND5B acts as:\r\n-GEF for activation of RAB proteins which are involved in membrane trafficking and neurotransmitter release\r\n-regulator of lipid absorption and homeostasis\r\n\r\nFunctional studies showed loss of expression of DENND5B in fibroblasts, abnormal vesicle trafficking, and impaired lipid uptake and intracellular distribution \nSources: Other",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:12:01.366228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.978",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DENND5B was added\ngene: DENND5B was added to Mendeliome. Sources: Other\nMode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DENND5B were set to Neurodevelopmental disorder with white matter anomalies\nReview for gene: DENND5B was set to GREEN\ngene: DENND5B was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n7 patients/7 families with de novo DENND5B variants (6 missense, 1 splice)\r\nDD/ID (mod/profound)(7/7), white matter anomalies (6/7) hypotonia, epilepsy (3/7)\r\n\r\nDENND5B acts as:\r\n-GEF for activation of RAB proteins which are involved in membrane trafficking and neurotransmitter release\r\n-regulator of lipid absorption and homeostasis\r\n\r\nFunctional studies showed loss of expression of DENND5B in fibroblasts, abnormal vesicle trafficking, and impaired lipid uptake and intracellular distribution \nSources: Other",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-24T13:11:53.330313+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.290",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DENND5B was added\ngene: DENND5B was added to Leukodystrophy - paediatric. Sources: Other\nMode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DENND5B were set to Neurodevelopmental disorder with white matter anomalies\nReview for gene: DENND5B was set to GREEN\ngene: DENND5B was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n7 patients/7 families with de novo DENND5B variants (6 missense, 1 splice)\r\nDD/ID (mod/profound)(7/7), white matter anomalies (6/7) hypotonia, epilepsy (3/7)\r\n\r\nDENND5B acts as:\r\n-GEF for activation of RAB proteins which are involved in membrane trafficking and neurotransmitter release\r\n-regulator of lipid absorption and homeostasis\r\n\r\nFunctional studies showed loss of expression of DENND5B in fibroblasts, abnormal vesicle trafficking, and impaired lipid uptake and intracellular distribution \nSources: Other",
"entity_name": "DENND5B",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:56:55.742269+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5262",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DMAP1 as Green List (high evidence)",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:56:55.732907+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5262",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dmap1 has been classified as Green List (High Evidence).",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:53:29.510892+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5261",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DMAP1 as Green List (high evidence)",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:53:29.502383+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5261",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dmap1 has been classified as Green List (High Evidence).",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:53:17.057136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.977",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DMAP1 as Green List (high evidence)",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:53:17.045493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.977",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dmap1 has been classified as Green List (High Evidence).",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:52:18.537950+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5260",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DMAP1 was added\ngene: DMAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: DMAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DMAP1 were set to Neurodevelopmental disorder\nReview for gene: DMAP1 was set to GREEN\ngene: DMAP1 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n9 patients/8 families with bilallelic variants in DMAP1 (3 missense, 7 LOF)\r\nAll with DD, speech delay, hypotonia, and ID\r\nSome with epilepsy (4/6), FTT (4/5), and brain malformations (3/5)\r\nDrosophila showed abnormal behaviour pattern and bang sensitivity\r\nSpecific methylation episignature also seen \nSources: Other",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:51:59.948718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.976",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DMAP1 was added\ngene: DMAP1 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: DMAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DMAP1 were set to Neurodevelopmental disorder\nReview for gene: DMAP1 was set to GREEN\ngene: DMAP1 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n9 patients/8 families with bilallelic variants in DMAP1 (3 missense, 7 LOF)\r\nAll with DD, speech delay, hypotonia, and ID\r\nSome with epilepsy (4/6), FTT (4/5), and brain malformations (3/5)\r\nDrosophila showed abnormal behaviour pattern and bang sensitivity\r\nSpecific methylation episignature also seen \nSources: Other",
"entity_name": "DMAP1",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:16:08.354326+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: VGLL2 as Green List (high evidence)",
"entity_name": "VGLL2",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:16:08.346414+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vgll2 has been classified as Green List (High Evidence).",
"entity_name": "VGLL2",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:16:01.260918+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.975",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: VGLL2 as Green List (high evidence)",
"entity_name": "VGLL2",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:16:01.245022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.975",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vgll2 has been classified as Green List (High Evidence).",
"entity_name": "VGLL2",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:15:46.984212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.974",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: VGLL2 was added\ngene: VGLL2 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: VGLL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VGLL2 were set to Syngnathia\nReview for gene: VGLL2 was set to GREEN\ngene: VGLL2 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n4 families/7 affected individuals with isolated unilateral/bilateral syngnathia\r\nbiallelic truncating variants in VGLL2\r\nBut not phenotype in KO mouse or zebrafish models \nSources: Other",
"entity_name": "VGLL2",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:15:23.940745+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: VGLL2 was added\ngene: VGLL2 was added to Mandibulofacial Acrofacial dysostosis. Sources: Other\nMode of inheritance for gene: VGLL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VGLL2 were set to Syngnathia\nReview for gene: VGLL2 was set to GREEN\nAdded comment: ESHG 2023:\r\n4 families/7 affected individuals with isolated unilateral/bilateral syngnathia\r\nbiallelic truncating variants in VGLL2\r\nBut not phenotype in KO mouse or zebrafish models \nSources: Other",
"entity_name": "VGLL2",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:00:41.681660+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.528",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZIC1 as Red List (low evidence)",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:00:41.677042+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.528",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Added comment: Comment on list classification: No evidence of regression",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:00:41.655750+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.528",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zic1 has been classified as Red List (Low Evidence).",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:00:21.897028+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.528",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ZIC1 as Red List (low evidence)",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:00:21.878639+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.528",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Added comment: Comment on list classification: No evidence of regression",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2023-07-24T12:00:21.802222+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.528",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: zic1 has been classified as Red List (Low Evidence).",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2023-07-24T11:59:44.739500+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.527",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ZIC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2023-07-24T11:40:27.890004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.973",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ITFG2 as Green List (high evidence)",
"entity_name": "ITFG2",
"entity_type": "gene"
},
{
"created": "2023-07-24T11:40:27.878356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.973",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: itfg2 has been classified as Green List (High Evidence).",
"entity_name": "ITFG2",
"entity_type": "gene"
},
{
"created": "2023-07-24T11:40:08.106552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.972",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ITFG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ITFG2",
"entity_type": "gene"
},
{
"created": "2023-07-24T11:39:49.995315+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5259",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ITFG2 as Green List (high evidence)",
"entity_name": "ITFG2",
"entity_type": "gene"
},
{
"created": "2023-07-24T11:39:49.984208+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5259",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: itfg2 has been classified as Green List (High Evidence).",
"entity_name": "ITFG2",
"entity_type": "gene"
},
{
"created": "2023-07-24T11:39:02.848255+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5258",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ITFG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ITFG2",
"entity_type": "gene"
},
{
"created": "2023-07-24T10:45:15.431019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.972",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL4A6: Rating: AMBER; Mode of pathogenicity: None; Publications: 33840813; Phenotypes: Deafness, X-linked 6 MIM#300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:57:22.840754+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMM2 as ready",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:57:22.832508+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Red List (Low Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:57:17.337779+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMM2 as Red List (low evidence)",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:57:17.326324+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Red List (Low Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:56:33.872166+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLP1 as ready",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:56:33.854352+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plp1 has been classified as Green List (High Evidence).",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:56:31.059242+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease MIM#312080; Spastic paraplegia 2, X-linked MIM#312920 to Spastic paraplegia 2, X-linked MIM#312920",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:50:26.884091+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLP1 as Green List (high evidence)",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:50:26.873809+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plp1 has been classified as Green List (High Evidence).",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:49:31.407517+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G6 as ready",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:49:31.399541+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g6 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:49:28.548530+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953 to Neurodegeneration with brain iron accumulation 2B MIM#610217",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:48:46.434031+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLA2G6 as Green List (high evidence)",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:48:46.422987+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g6 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:47:36.113906+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGA as ready",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:47:36.102851+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piga has been classified as Green List (High Evidence).",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:47:28.097167+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868; Neurodevelopmental disorder with epilepsy and hemochromatosis MIM#301072; Paroxysmal nocturnal hemoglobinuria, somatic MIM#300818 to Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868; Neurodevelopmental disorder with epilepsy and haemochromatosis MIM#301072",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:46:41.204410+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGA as Green List (high evidence)",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:46:41.194009+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piga has been classified as Green List (High Evidence).",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:38:41.057680+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHX as ready",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:38:41.046698+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhx has been classified as Green List (High Evidence).",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:38:31.315863+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDHX as Green List (high evidence)",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:38:31.308147+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhx has been classified as Green List (High Evidence).",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:37:53.070210+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHA1 as ready",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:37:53.060727+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdha1 has been classified as Green List (High Evidence).",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:33:40.515471+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDHA1 as Green List (high evidence)",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:33:40.503911+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdha1 has been classified as Green List (High Evidence).",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:32:48.218016+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PANK2 were set to PMID: 33098801",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:32:17.800858+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PANK2 as Green List (high evidence)",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:32:17.790598+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pank2 has been classified as Green List (High Evidence).",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:31:23.929000+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAK3 were set to 25666757",
"entity_name": "PAK3",
"entity_type": "gene"
}
]
}