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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=598",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=596",
"results": [
{
"created": "2023-05-31T11:39:17.693160+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:39:00.328527+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:37:43.459578+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: CYP27A1.\nTag metabolic tag was added to gene: CYP27A1.",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:37:32.299983+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP27A1 as Green List (high evidence)",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:37:32.265306+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:37:01.923706+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CYP27A1: Added comment: Average age of onset is in late childhood, but a proportion would have onset < 5yo and early treatment beneficial.; Changed rating: GREEN; Changed publications: 24442603",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:31:30.405140+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGSH were set to ",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:31:19.252492+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGSH as Amber List (moderate evidence)",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:31:19.227417+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:31:19.144794+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGSH as Amber List (moderate evidence)",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:31:19.135544+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:31:18.064393+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGSH as Amber List (moderate evidence)",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:31:18.052617+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgsh has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:31:06.369041+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag clinical trial tag was added to gene: SGSH.",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-05-31T11:30:57.034720+10:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: None; Publications: 31044143; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-05-31T10:58:51.490036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.895",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "reviewed gene: MCM6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37198333; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, MCM6-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MCM6",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:51:33.598993+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANG as ready",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:51:33.587373+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ang has been classified as Green List (High Evidence).",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:51:28.633464+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANG were changed from to Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753; MIM#611895)",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:50:55.453678+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANG were set to ",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:50:19.809013+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:49:40.365952+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALS2 as ready",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:49:40.357853+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: als2 has been classified as Green List (High Evidence).",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:49:36.789129+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALS2 were changed from to Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100; MONDO: MONDO:0008780)",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:49:03.835894+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALS2 were set to ",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:48:27.153806+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:47:41.132721+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASCC1 as ready",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:47:41.120678+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ascc1 has been classified as Green List (High Evidence).",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:47:38.731352+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASCC1 were changed from to spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807; MIM#616867)",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:47:03.234586+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASCC1 were set to ",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:46:29.499449+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:44:10.080701+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APTX as ready",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:44:10.049517+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aptx has been classified as Green List (High Evidence).",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:44:07.562422+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Hereditary Neuropathies to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920)",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:43:47.628135+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APTX were set to ",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:42:28.693122+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GALNT1 as ready",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:42:28.681684+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:42:25.046774+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy to Spastic paraplegia 26, autosomal recessive (MIM#609195; MONDO:0012213)",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:42:06.937706+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B4GALNT1 were set to ",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:41:50.116036+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B4GALNT1 as Amber List (moderate evidence)",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:41:50.102261+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:41:15.613959+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BAG3 as ready",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:41:15.604284+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bag3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:41:13.137893+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BAG3 were changed from Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881; HMSN to Myopathy, myofibrillar, 6 (MIM#612954; MONDO:0013061)",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:40:56.417779+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BAG3 were set to ",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:40:41.624549+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BAG3 as Amber List (moderate evidence)",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:40:41.613870+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bag3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:40:11.575932+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTNAP1 as ready",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:40:11.565816+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap1 has been classified as Green List (High Evidence).",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:40:08.409314+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNTNAP1 were changed from Hypomyelinating neuropathy, congenital, 3, 618186 to Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049; MIM#618186)",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:39:51.828984+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNTNAP1 were set to ",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:39:15.479844+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX10 as ready",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:39:15.471734+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:39:08.938845+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX10 were changed from Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; HMSN to Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046)",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:38:52.099768+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX10 were set to ",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:38:35.717161+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX10 as Amber List (moderate evidence)",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:38:35.702608+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:38:03.900290+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTDP1 as ready",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:38:03.888049+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctdp1 has been classified as Green List (High Evidence).",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:38:01.338424+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTDP1 were changed from Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); HMSN to Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168)",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:37:32.549127+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTDP1 were set to ",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:37:14.367395+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: CTDP1.\nTag founder tag was added to gene: CTDP1.",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:37:04.579975+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:31:17.899813+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP2U1 as ready",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:31:17.891859+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2u1 has been classified as Green List (High Evidence).",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:31:15.018447+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP2U1 were changed from Onset first decade, spastic paraplegia, rarely dystonia and cognitive impairment, subclinical sensory-motor axonal neuropathy to Spastic paraplegia 56, autosomal recessive, MIM#615030",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:30:58.106732+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP2U1 were set to ",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:30:13.834457+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RASA1 were set to 33461977",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:29:56.420149+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RASA1: Added comment: PMID 36980822: 21 cases presenting with hydrops.; Changed publications: 33461977, 36980822",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:28:58.552172+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RASA1 were set to 26096958",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:21:03.672557+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RASA1 as Green List (high evidence)",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:21:03.661138+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasa1 has been classified as Green List (High Evidence).",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:20:01.886819+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADCY5 as ready",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:20:01.872580+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy5 has been classified as Green List (High Evidence).",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:19:50.597787+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADCY5 as Green List (high evidence)",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:19:50.589786+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy5 has been classified as Green List (High Evidence).",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:19:04.731128+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:19:04.719432+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:19:00.230769+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:18:26.737276+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTB as Green List (high evidence)",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:18:26.729437+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:17:48.605946+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADM as ready",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:17:48.595142+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadm has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:17:26.607124+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACADM as Amber List (moderate evidence)",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:17:26.599306+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadm has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:16:34.447771+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADNP as ready",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:16:34.436670+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adnp has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:16:30.638205+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADNP as Amber List (moderate evidence)",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:16:30.628935+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adnp has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:15:44.644086+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHDC1 as ready",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:15:44.636592+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahdc1 has been classified as Green List (High Evidence).",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:15:40.355693+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AHDC1 as Green List (high evidence)",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:15:40.343891+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahdc1 has been classified as Green List (High Evidence).",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:14:51.789953+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:14:51.780944+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Red List (Low Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:14:49.084566+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:14:17.556173+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AKT3 as Red List (low evidence)",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:14:17.545003+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Red List (Low Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:13:47.030745+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2023-05-30T18:12:34.054166+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARG1 as ready",
"entity_name": "ARG1",
"entity_type": "gene"
}
]
}