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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1859",
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"results": [
{
"created": "2020-04-17T09:06:10.558634+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EIF2B4 as Green List (high evidence)",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:06:10.544947+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b4 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:05:58.336158+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EIF2B4 was added\ngene: EIF2B4 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B4 were set to Leukoencephalopathy with vanishing white matter MIM#603896\nReview for gene: EIF2B4 was set to GREEN\nAdded comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years). \nSources: Expert list",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:05:21.578444+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTN2 as ready",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:05:21.569619+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn2 has been classified as Green List (High Evidence).",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:05:18.226688+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTN2 were changed from Joubert syndrome 24 to Joubert syndrome 24, MIM#\t616654",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:05:10.271274+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN2 were set to ",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:04:55.993723+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25118024, 21565611; Phenotypes: Joubert syndrome 24, MIM# 616654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:04:39.256988+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF2B3 as ready",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:04:39.248229+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:04:35.431201+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EIF2B3 as Green List (high evidence)",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:04:35.417820+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:04:23.854306+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.99",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EIF2B3 was added\ngene: EIF2B3 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter MIM#603896\nReview for gene: EIF2B3 was set to GREEN\nAdded comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years). \nSources: Expert list",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:02:52.811885+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.98",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF2B2 as ready",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:02:52.803198+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.98",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:02:44.414560+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.98",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EIF2B2 as Green List (high evidence)",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:02:44.401398+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.98",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:02:32.430765+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.97",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EIF2B2 was added\ngene: EIF2B2 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter MIM#603896\nReview for gene: EIF2B2 was set to GREEN\nAdded comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years). \nSources: Expert list",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:00:36.176997+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.96",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF2B1 as ready",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:00:36.164197+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.96",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b1 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:00:30.475271+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.96",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EIF2B1 as Green List (high evidence)",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:00:30.466259+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.96",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b1 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2020-04-17T09:00:18.030465+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.95",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EIF2B1 was added\ngene: EIF2B1 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter MIM#603896\nReview for gene: EIF2B1 was set to GREEN\nAdded comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years). \nSources: Expert list",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:56:47.714026+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COA7 as ready",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:56:47.700661+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: coa7 has been classified as Green List (High Evidence).",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:56:43.440802+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COA7 as Green List (high evidence)",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:56:43.427561+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: coa7 has been classified as Green List (High Evidence).",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:56:32.581748+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.93",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COA7 was added\ngene: COA7 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387\nReview for gene: COA7 was set to GREEN\nAdded comment: Onset usually in the first decade. \nSources: Expert list",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:54:22.750262+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CACNA1G as ready",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:54:22.736892+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cacna1g has been classified as Green List (High Evidence).",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:54:18.560754+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CACNA1G as Green List (high evidence)",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:54:18.547275+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cacna1g has been classified as Green List (High Evidence).",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:54:06.357935+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.91",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CACNA1G was added\ngene: CACNA1G was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MIM#618087\nReview for gene: CACNA1G was set to GREEN\nAdded comment: Onset of ataxia is soon after birth or in early infancy. \nSources: Expert list",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:51:02.597157+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CACNA1A as ready",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:51:02.583556+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:50:59.032866+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CACNA1A as Green List (high evidence)",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:50:59.023719+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:50:47.536692+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.89",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CACNA1A was added\ngene: CACNA1A was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1A were set to Episodic ataxia, type 2 MIM#108500\nReview for gene: CACNA1A was set to GREEN\nAdded comment: Onset of episodic ataxia usually in childhood or adolescence. \nSources: Expert list",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:47:55.840499+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTN3 as ready",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:47:55.824875+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn3 has been classified as Green List (High Evidence).",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:47:55.383879+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.88",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATP1A3 as ready",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:47:55.371324+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.88",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:47:52.252965+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTN3 were changed from Joubert syndrome 18 to Joubert syndrome 18, MIM# 614815; Orofaciodigital syndrome IV, MIM# 258860",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:47:48.476984+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.87",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP1A3 as Green List (high evidence)",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:47:48.467641+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.87",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:47:40.968188+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN3 were set to ",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:47:26.719380+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883145, 25118024; Phenotypes: Joubert syndrome 18, MIM# 614815, Orofaciodigital syndrome IV, MIM# 258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:47:16.725807+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.85",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP1A3 was added\ngene: ATP1A3 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATP1A3 were set to Alternating hemiplegia of childhood 2 MIM#614820; CAPOS syndrome MIM#601338\nReview for gene: ATP1A3 was set to GREEN\nAdded comment: Onset of ataxia is usually in infancy or childhood. \nSources: Expert list",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:42:47.420774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATG5 as Amber List (moderate evidence)",
"entity_name": "ATG5",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:42:47.406893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atg5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATG5",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:42:27.229232+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.84",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ATG5 were set to 26812546",
"entity_name": "ATG5",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:42:19.204824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2296",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATG5 was added\ngene: ATG5 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ATG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATG5 were set to 16625204; 26812546\nPhenotypes for gene: ATG5 were set to Spinocerebellar ataxia, autosomal recessive 25 MIM#617584\nReview for gene: ATG5 was set to AMBER\nAdded comment: A homozgyous variant was identified in a single family with two affected siblings. Mice deficient for Atg5 specifically in neural cells and Atg5 null Drosophila develop progressive deficits in motor function. \nSources: Expert list",
"entity_name": "ATG5",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:40:27.195666+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATG5 as ready",
"entity_name": "ATG5",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:40:27.182713+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atg5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATG5",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:39:14.951067+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATG5 as Amber List (moderate evidence)",
"entity_name": "ATG5",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:39:14.941037+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atg5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATG5",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:39:04.428365+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ATG5: Rating: AMBER; Mode of pathogenicity: None; Publications: 16625204, 26812546; Phenotypes: Spinocerebellar ataxia, autosomal recessive 25 MIM#617584; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATG5",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:25:28.348481+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATM as ready",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:25:28.335162+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atm has been classified as Green List (High Evidence).",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:25:24.103943+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATM as Green List (high evidence)",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:25:24.094887+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atm has been classified as Green List (High Evidence).",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:25:10.824924+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATM was added\ngene: ATM was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATM were set to Ataxia-telangiectasia MIM#208900\nReview for gene: ATM was set to GREEN\nAdded comment: Onset of ataxia is usually in childhood. \nSources: Expert list",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:23:11.512660+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.80",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANO10 as Green List (high evidence)",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:23:11.499379+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.80",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ano10 has been classified as Green List (High Evidence).",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:23:01.227368+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.79",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANO10 was added\ngene: ANO10 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728\nReview for gene: ANO10 was set to GREEN\nAdded comment: Onset of ataxia is in adolescence or adulthood. \nSources: Expert list",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:20:08.602941+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AFG3L2 as ready",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:20:08.594288+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Green List (High Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:20:03.079010+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AFG3L2 as Green List (high evidence)",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-17T08:20:03.070361+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Green List (High Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-16T21:49:21.810102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL18BP was added\ngene: IL18BP was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL18BP were set to 31213488\nPhenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to}\t618549\nReview for gene: IL18BP was set to RED\nAdded comment: Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis. \nSources: Expert list",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2020-04-16T21:48:12.040442+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL18BP was added\ngene: IL18BP was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL18BP were set to 31213488\nPhenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to}\t618549\nReview for gene: IL18BP was set to RED\nAdded comment: Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis. \nSources: Expert list",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2020-04-16T21:41:54.517947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF4 were changed from to Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2020-04-16T21:41:43.216163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRF4 were set to ",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2020-04-16T21:41:27.551958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IRF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2020-04-16T21:41:08.620642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF4 as Red List (low evidence)",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2020-04-16T21:41:08.606919+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf4 has been classified as Red List (Low Evidence).",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2020-04-16T21:40:50.185359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: None; Publications: 29537367; Phenotypes: Whipple's disease, [Skin/hair/eye pigmentation, variation in, 8] 611724; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:41:53.481650+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THG1L as ready",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:41:53.472934+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thg1l has been classified as Green List (High Evidence).",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:41:48.488927+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THG1L were set to ",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:41:34.105506+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THG1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27307223, 30214071, 31168944; Phenotypes: Cerebellar ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:36:46.745647+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TINF2 as ready",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:36:46.732296+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tinf2 has been classified as Green List (High Evidence).",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:36:13.762235+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TINF2 were set to ",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:36:01.725243+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252230, 21477109, 18979121; Phenotypes: Revesz syndrome, MIM# 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:32:48.554254+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM106B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:32:40.193216+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM106B as ready",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:32:40.183848+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem106b has been classified as Green List (High Evidence).",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:32:35.879408+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM106B were set to ",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:32:13.746533+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29186371, 29444210; Phenotypes: Leukodystrophy, hypomyelinating, 16, MIM# 617964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:30:34.052513+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM138 as ready",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:30:34.038190+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem138 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:30:31.592576+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM138 were changed from Joubert syndrome 16 to Joubert syndrome 16, MIM#\t614465",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:30:14.726609+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM138 as Amber List (moderate evidence)",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:30:14.713144+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem138 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2020-04-16T18:30:05.699099+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM138: Rating: AMBER; Mode of pathogenicity: None; Publications: 22282472; Phenotypes: Joubert syndrome 16, MIM# 614465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2020-04-16T17:57:44.672731+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM216 as ready",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-04-16T17:57:44.664007+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem216 has been classified as Green List (High Evidence).",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-04-16T17:57:41.803602+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2 to Joubert syndrome 2, MIM#\t608091",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-04-16T17:57:33.925470+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM216 were set to ",
"entity_name": "TMEM216",
"entity_type": "gene"
}
]
}