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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1819",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1817",
"results": [
{
"created": "2020-04-27T20:45:14.745201+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXOSC9 were set to ",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:44:45.714416+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXOSC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:44:18.739694+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC9 as Amber List (moderate evidence)",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:44:18.725784+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:42:59.212138+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A46 as ready",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:42:59.200890+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a46 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:42:54.609811+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:42:27.094591+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A46 were set to ",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:41:58.784784+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:40:50.787576+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD2 as ready",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:40:50.774153+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:40:47.574193+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD2 were changed from to Luscan-Lumish syndrome (MIM#616831)",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:40:24.907818+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD2 were set to ",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:39:55.741549+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:39:29.458700+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SETD2 as Amber List (moderate evidence)",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:39:29.449529+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:38:17.645549+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB11B as ready",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:38:17.636993+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab11b has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:38:15.249110+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807)",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:37:42.405792+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB11B were set to ",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:37:14.262569+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:36:51.787655+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB11B as Amber List (moderate evidence)",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:36:51.776599+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab11b has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:35:36.545705+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS3 as ready",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:35:36.535080+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus3 has been classified as Red List (Low Evidence).",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:34:09.208379+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUS3 were changed from to Mental retardation, autosomal recessive 55 (MIM#617051)",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:33:40.548915+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUS3 were set to ",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:33:16.330861+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PUS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:32:53.065665+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PUS3 as Red List (low evidence)",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2020-04-27T20:32:53.052477+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus3 has been classified as Red List (Low Evidence).",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2020-04-27T18:45:44.883706+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAT as ready",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2020-04-27T18:45:44.874917+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lat has been classified as Green List (High Evidence).",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2020-04-27T18:45:39.469094+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAT as Green List (high evidence)",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2020-04-27T18:45:39.457205+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lat has been classified as Green List (High Evidence).",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2020-04-27T18:45:28.435076+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAT was added\ngene: LAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAT were set to 27242165; 27522155\nPhenotypes for gene: LAT were set to Immunodeficiency 52, MIM#\t617514\nReview for gene: LAT was set to GREEN\nAdded comment: Sources: Expert Review",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2020-04-27T18:43:17.706935+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SPNS1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-27T16:45:05.474865+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.68",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PUS3: Rating: RED; Mode of pathogenicity: None; Publications: 27055666, 30308082, 30697592, 31444731; Phenotypes: Mental retardation, autosomal recessive 55 (MIM#617051); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2020-04-27T16:23:58.710761+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.68",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2020-04-27T15:54:07.257924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants cause galactosialidosis, and mono-allelic variants cause CARASAL.; to: Bi-allelic variants associated with galactosialidosis, and mono-allelic variants associated with CARASAL.",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2020-04-27T15:53:35.840414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31177426; Phenotypes: Galactosialidosis, MIM# 256540, Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2020-04-27T15:41:09.942537+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTC1 as ready",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2020-04-27T15:41:09.933014+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctc1 has been classified as Green List (High Evidence).",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2020-04-27T15:41:04.892632+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTC1 as Green List (high evidence)",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2020-04-27T15:41:04.880145+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctc1 has been classified as Green List (High Evidence).",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2020-04-27T15:40:55.621384+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTC1 was added\ngene: CTC1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTC1 were set to 22267198; 22387016\nPhenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM#\t612199\nReview for gene: CTC1 was set to GREEN\nAdded comment: Onset typically in infancy/childhood with intracranial calcifications, leukoencephalopathy, and early-onset retinal changes, associated with extra-neurologic manifestations including early-onset bone fractures, gastrointestinal ectasia, and variable hair, nail, and skin changes, and/or anemia. \nSources: Expert list",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2020-04-27T15:07:54.224041+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.68",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31643139, 31474318, 26084711; Phenotypes: Luscan-Lumish syndrome (MIM#616831); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-04-27T14:16:30.589539+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.68",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 27543974, 28637197, 28376086, 26168012; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:49:00.023185+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.68",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29727687, 30690203; Phenotypes: Pontocerebellar hypoplasia, type 1D 618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:47:24.375851+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2598",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CEBALID syndrome, MIM#618774; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MN1",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:43:48.225639+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AUH as ready",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:43:48.216875+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auh has been classified as Green List (High Evidence).",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:43:43.905048+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AUH as Green List (high evidence)",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:43:43.896873+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auh has been classified as Green List (High Evidence).",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:43:34.119246+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AUH was added\ngene: AUH was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, MIM# 250950\nReview for gene: AUH was set to GREEN\nAdded comment: Onset is typically in childhood, though presentation is variable so worth keeping on both paediatric and adult panels. \nSources: Expert list",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:39:15.065474+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOPT1 as ready",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:39:15.054202+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apopt1 has been classified as Green List (High Evidence).",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:39:10.540716+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APOPT1 as Green List (high evidence)",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:39:10.531604+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apopt1 has been classified as Green List (High Evidence).",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:39:02.596758+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APOPT1 was added\ngene: APOPT1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: APOPT1 were set to 25175347\nPhenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, MIM# 220110\nReview for gene: APOPT1 was set to GREEN\nAdded comment: Cavitating leukodystrophy reported as part of this mitochondrial disorder, onset described as late infancy/early childhood. \nSources: Expert list",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:32:37.793412+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC5 as ready",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:32:37.789074+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Pre-print",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:32:37.753764+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:32:33.219067+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC5 were changed from to Developmental delays, short stature, cerebellar hypoplasia and motor weakness",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:32:09.782365+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXOSC5 were set to ",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:30:57.605879+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXOSC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:29:59.884050+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC5 as Amber List (moderate evidence)",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:29:59.874830+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:28:22.354034+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMPD4 as ready",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:28:22.344662+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smpd4 has been classified as Green List (High Evidence).",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:28:17.119406+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMPD4 as Green List (high evidence)",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:28:17.107809+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smpd4 has been classified as Green List (High Evidence).",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:27:17.295466+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX3X as ready",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:27:17.285787+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx3x has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:27:14.265211+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX3X were changed from to Mental retardation, X-linked 102, MIM# 300958",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:26:27.004191+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX3X were set to ",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:26:25.569458+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.61",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "changed review comment from: No phenotype association in OMIM, emerging gene with a single paper\r\n\r\n3 patients reported: one patient with cerebellar hypoplasia, another with reduced cerebellar vermis; to: No phenotype association in OMIM, emerging gene with a single paper\r\n\r\n3 patients reported: one patient with cerebellar hypoplasia, another with reduced cerebellar vermis\r\n\r\nSummary: 2/3 patients have cerebellar/vermis hypoplasia",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:25:50.213926+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.61",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: EXOSC5: Rating: AMBER; Mode of pathogenicity: None; Publications: doi: https://doi.org/10.1101/2020.04.01.839274; Phenotypes: Developmental delays, short stature, cerebellar hypoplasia and motor weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:25:16.978588+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDX3X was changed from Unknown to Other",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:24:08.798144+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX3X as Amber List (moderate evidence)",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:24:08.788658+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx3x has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:23:40.066107+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: None; Publications: 30936465; Phenotypes: Mental retardation, X-linked 102, MIM# 300958; Mode of inheritance: Other",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:16:20.361183+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:15:58.152122+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNX14 as ready",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:15:58.141827+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx14 has been classified as Green List (High Evidence).",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:15:08.479178+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNX14 as Green List (high evidence)",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:15:08.468061+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx14 has been classified as Green List (High Evidence).",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:13:48.901199+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCK as ready",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:13:48.897213+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree, uncertain about whether reported findings truly reflect cerebellar/pontocerebellar hypoplasia.",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:13:48.860442+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbck has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:13:02.196938+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCK as ready",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:13:02.188233+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbck has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:12:46.045182+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (MIM#616900)",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:12:18.284446+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBCK were set to ",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:11:49.307946+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:11:15.340465+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBCK as Amber List (moderate evidence)",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:11:15.329280+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbck has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:09:07.957503+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DKC1 as ready",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:09:07.947899+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Green List (High Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:09:04.233862+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DKC1 as Green List (high evidence)",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2020-04-27T13:09:04.224608+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Green List (High Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
}
]
}