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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=353",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=351",
"results": [
{
"created": "2024-11-08T17:14:31.703645+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MARK2 as ready",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T17:14:31.689253+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mark2 has been classified as Green List (High Evidence).",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T17:14:12.351196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MARK2 as ready",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T17:14:12.311653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mark2 has been classified as Green List (High Evidence).",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T17:13:56.687839+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MARK2 as ready",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T17:13:56.664575+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mark2 has been classified as Green List (High Evidence).",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T17:13:47.096164+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MARK2 as Green List (high evidence)",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T17:13:47.067114+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mark2 has been classified as Green List (High Evidence).",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T17:13:03.958382+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MARK2 as ready",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T17:13:03.918044+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mark2 has been classified as Green List (High Evidence).",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T17:12:58.877224+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MARK2 as Green List (high evidence)",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T17:12:58.860656+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mark2 has been classified as Green List (High Evidence).",
"entity_name": "MARK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:55:08.374060+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRAK2 as ready",
"entity_name": "IRAK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:55:08.364192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irak2 has been classified as Red List (Low Evidence).",
"entity_name": "IRAK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:55:01.066259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, MONDO:0957790, IRAK2-related",
"entity_name": "IRAK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:54:34.880615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRAK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immune dysregulation, MONDO:0957790, IRAK2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IRAK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:54:11.076717+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRAK2 as ready",
"entity_name": "IRAK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:54:11.065258+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irak2 has been classified as Red List (Low Evidence).",
"entity_name": "IRAK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:54:03.262300+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, MONDO:0957790, IRAK2-related",
"entity_name": "IRAK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:52:54.178904+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRAK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immune dysregulation, MONDO:0957790, IRAK2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IRAK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:48:40.546604+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRAK2 as ready",
"entity_name": "IRAK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:48:40.531299+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irak2 has been classified as Red List (Low Evidence).",
"entity_name": "IRAK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:48:34.770056+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, MONDO:0957790, IRAK2-related",
"entity_name": "IRAK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:47:51.961598+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRAK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immune dysregulation, MONDO:0957790, IRAK2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IRAK2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:43:35.618249+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DTNA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, MONDO:0020121, DTNA-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DTNA",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:43:24.114235+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DTNA as ready",
"entity_name": "DTNA",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:43:24.091697+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dtna has been classified as Amber List (Moderate Evidence).",
"entity_name": "DTNA",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:43:21.733215+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DTNA were changed from Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis MONDO:0859322 to Muscular dystrophy, MONDO:0020121, DTNA-related",
"entity_name": "DTNA",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:42:25.584719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DTNA were set to 29118297; 11238270; 16427346",
"entity_name": "DTNA",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:42:00.872743+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DTNA were changed from Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169 to Muscular dystrophy, MONDO:0020121, DTNA-related; Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169",
"entity_name": "DTNA",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:40:59.568827+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DTNA as ready",
"entity_name": "DTNA",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:40:59.556418+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dtna has been classified as Green List (High Evidence).",
"entity_name": "DTNA",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:40:55.664693+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DTNA were changed from Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis MONDO:0859322 to Muscular dystrophy, MONDO:0020121, DTNA-related",
"entity_name": "DTNA",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:36:21.586414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKZF2 were changed from Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation to Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation; nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:35:57.272858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IKZF2 were set to 34920454; 34826259",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2024-11-08T16:07:31.973136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2094",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CRACR2A: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008378; Phenotypes: combined immunodeficiency MONDO:0015131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRACR2A",
"entity_type": "gene"
},
{
"created": "2024-11-08T15:55:38.003570+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2094",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008406; Phenotypes: ciliary dyskinesia, primary, 40 MONDO:0032664; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2024-11-08T15:50:03.085014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2094",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008377; Phenotypes: congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUK",
"entity_type": "gene"
},
{
"created": "2024-11-08T15:38:10.662842+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2094",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008376; Phenotypes: severe combined immunodeficiency due to CTPS1 deficiency MONDO:0014391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2024-11-08T15:13:17.507580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2094",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008480; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:59:56.733449+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BHLHE22 as ready",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:59:56.717849+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bhlhe22 has been classified as Green List (High Evidence).",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:59:51.279253+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BHLHE22 as Green List (high evidence)",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:59:51.267124+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bhlhe22 has been classified as Green List (High Evidence).",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:59:15.150863+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BHLHE22 was added\ngene: BHLHE22 was added to Callosome. Sources: Literature\nMode of inheritance for gene: BHLHE22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: BHLHE22 were set to 39502664\nPhenotypes for gene: BHLHE22 were set to Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related\nReview for gene: BHLHE22 was set to GREEN\nAdded comment: Four individuals with de novo missense variants within the highly conserved helix-loop-helix domain and seven individuals from five unrelated families with a recurrent homozygous frameshift variant, p.(Gly74Alafs*18).\r\n\r\nIndividuals presented with absent or limited speech, severely impaired motor abilities, intellectual disability (ID), involuntary movements, autistic traits with stereotypies, abnormal muscle tone. The majority of individuals had partial or complete agenesis of the corpus callosum (ACC). Additional symptoms comprised epilepsy, variable dysmorphic features, and eye anomalies. One additional individual had spastic paraplegia without delayed development and ACC, expanding the phenotype to milder and later onset forms.\r\n\r\nMice lacking bhlhe22 show nearly complete loss of three brain comminsure, including the corpus callosum. \nSources: Literature",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:57:33.880635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BHLHE22 as ready",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:57:33.870741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bhlhe22 has been classified as Green List (High Evidence).",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:57:21.910663+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BHLHE22 as Green List (high evidence)",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:57:21.894233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bhlhe22 has been classified as Green List (High Evidence).",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:56:26.580641+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BHLHE22 was added\ngene: BHLHE22 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BHLHE22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: BHLHE22 were set to 39502664\nPhenotypes for gene: BHLHE22 were set to Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related\nReview for gene: BHLHE22 was set to GREEN\nAdded comment: Four individuals with de novo missense variants within the highly conserved helix-loop-helix domain and seven individuals from five unrelated families with a recurrent homozygous frameshift variant, p.(Gly74Alafs*18).\r\n\r\nIndividuals presented with absent or limited speech, severely impaired motor abilities, intellectual disability (ID), involuntary movements, autistic traits with stereotypies, abnormal muscle tone. The majority of individuals had partial or complete agenesis of the corpus callosum (ACC). Additional symptoms comprised epilepsy, variable dysmorphic features, and eye anomalies. One additional individual had spastic paraplegia without delayed development and ACC, expanding the phenotype to milder and later onset forms.\r\n\r\nMice lacking bhlhe22 show nearly complete loss of three brain comminsure, including the corpus callosum. \nSources: Literature",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:56:05.808822+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BHLHE22 as Green List (high evidence)",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:56:05.799406+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bhlhe22 has been classified as Green List (High Evidence).",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:56:00.149470+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BHLHE22 as ready",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:56:00.114740+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bhlhe22 has been classified as Green List (High Evidence).",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:55:04.728288+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BHLHE22 as Green List (high evidence)",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:55:04.710841+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bhlhe22 has been classified as Green List (High Evidence).",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:54:08.575007+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BHLHE22 was added\ngene: BHLHE22 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: BHLHE22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: BHLHE22 were set to 39502664\nPhenotypes for gene: BHLHE22 were set to Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related\nReview for gene: BHLHE22 was set to GREEN\nAdded comment: Four individuals with de novo missense variants within the highly conserved helix-loop-helix domain and seven individuals from five unrelated families with a recurrent homozygous frameshift variant, p.(Gly74Alafs*18). \r\n\r\nIndividuals presented with absent or limited speech, severely impaired motor abilities, intellectual disability (ID), involuntary movements, autistic traits with stereotypies, abnormal muscle tone. The majority of individuals had partial or complete agenesis of the corpus callosum (ACC). Additional symptoms comprised epilepsy, variable dysmorphic features, and eye anomalies. One additional individual had spastic paraplegia without delayed development and ACC, expanding the phenotype to milder and later onset forms.\r\n\r\nMice lacking bhlhe22 show nearly complete loss of three brain comminsure, including the corpus callosum. \nSources: Literature",
"entity_name": "BHLHE22",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:49:01.112033+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPL49 as ready",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:49:01.087645+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl49 has been classified as Green List (High Evidence).",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:48:44.774704+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPL49 as Green List (high evidence)",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:48:44.764182+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl49 has been classified as Green List (High Evidence).",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:47:52.044019+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRPL49 was added\ngene: MRPL49 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPL49 were set to 39417135\nPhenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related\nReview for gene: MRPL49 was set to GREEN\nAdded comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:46:05.940954+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPL49 as ready",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:46:05.928543+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl49 has been classified as Green List (High Evidence).",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:46:00.755394+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPL49 as Green List (high evidence)",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:46:00.741800+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl49 has been classified as Green List (High Evidence).",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:45:25.714696+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRPL49 was added\ngene: MRPL49 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPL49 were set to 39417135\nPhenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related\nReview for gene: MRPL49 was set to GREEN\nAdded comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:43:52.606710+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPL49 as ready",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:43:52.596570+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl49 has been classified as Green List (High Evidence).",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:39:27.274654+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPL49 as Green List (high evidence)",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:39:27.264068+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl49 has been classified as Green List (High Evidence).",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:39:11.053860+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRPL49 was added\ngene: MRPL49 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPL49 were set to 39417135\nPhenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related\nReview for gene: MRPL49 was set to GREEN\nAdded comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:38:02.856555+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPL49 as ready",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:38:02.845093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl49 has been classified as Green List (High Evidence).",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:37:54.184378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPL49 as Green List (high evidence)",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:37:54.157291+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl49 has been classified as Green List (High Evidence).",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:37:33.962159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRPL49 was added\ngene: MRPL49 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPL49 were set to 39417135\nPhenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related\nReview for gene: MRPL49 was set to GREEN\nAdded comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:20:37.269660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2090",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008481; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:20:33.999518+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6651",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008481; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:12:15.279778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2090",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008372; Phenotypes: complex hereditary spastic paraplegia MONDO:0015150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2024-11-08T14:01:40.758393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2090",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NPTX1: Rating: GREEN; Mode of pathogenicity: Other; Publications: https://search.clinicalgenome.org/CCID:008403; Phenotypes: autosomal dominant cerebellar ataxia MONDO:0020380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NPTX1",
"entity_type": "gene"
},
{
"created": "2024-11-08T10:19:45.810848+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACKR1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2024-11-08T10:19:33.948733+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACKR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2024-11-08T10:19:24.730052+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACKR1 as ready",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2024-11-08T10:19:24.712227+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ackr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2024-11-08T10:19:20.238232+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACKR1 as Amber List (moderate evidence)",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2024-11-08T10:19:20.227669+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ackr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2024-11-08T10:19:12.040663+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACKR1 was added\ngene: ACKR1 was added to IBMDx study. Sources: Expert Review\nMode of inheritance for gene: ACKR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACKR1 were set to [Blood group, Duffy system]\t110700; Duffy null susceptibility allele\nReview for gene: ACKR1 was set to AMBER\nAdded comment: c.-67T>C is associated with low neutrophil counts. \nSources: Expert Review",
"entity_name": "ACKR1",
"entity_type": "gene"
},
{
"created": "2024-11-07T21:52:11.518555+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.414",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: MET: Rating: GREEN; Mode of pathogenicity: None; Publications: 38429387; Phenotypes: ?Arthrogryposis, distal, type 11, OMIM:620019; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2024-11-07T17:39:06.941892+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.546",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135652, 15334737; Phenotypes: Citrullinaemia (MIM# 215700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2024-11-07T17:12:09.697220+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6651",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PEX11B as ready",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2024-11-07T17:12:09.686114+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6651",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pex11b has been classified as Green List (High Evidence).",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2024-11-07T17:11:58.687843+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6651",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX11B were set to 28129423; 22581968",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2024-11-07T17:11:28.255804+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6650",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B MIM#614920",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2024-11-07T17:10:50.009691+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6649",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX11B were set to ",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2024-11-07T17:10:14.066340+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6648",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2024-11-07T17:09:25.177074+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6647",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28129423, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2024-11-07T17:07:26.118645+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6647",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PEX10 as ready",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-11-07T17:07:26.101452+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6647",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pex10 has been classified as Green List (High Evidence).",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2024-11-07T17:07:09.077077+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6647",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PEX10 were set to 20301621",
"entity_name": "PEX10",
"entity_type": "gene"
}
]
}