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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1744",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1742",
"results": [
{
"created": "2020-07-06T14:35:07.258894+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.69",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: SGPL1 was added\ngene: SGPL1 was added to Hereditary Neuropathy - complex. Sources: Expert Review\nMode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGPL1 were set to 28077491; 28165339; 30274713; 28165343\nPhenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14\t(MIM#617575)\nReview for gene: SGPL1 was set to AMBER\nAdded comment: Peripheral neuropathy has been reported in patients however does not appear to be consistent feature. \r\n\r\nPMID: 28077491: Reported as a cause of CMT in 2 sibs\r\n\r\nPMID: 28165339: Reported 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects. Peripheral neuropathy (motor and sensory) reported in one family. \r\n\r\nPMID: 30274713: Review article. \nSources: Expert Review",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:34:47.312730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADPRHL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:34:27.382217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADPRHL2: Changed publications: 30100084, 30401461",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:34:21.882510+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADPRHL2 as ready",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:34:21.873438+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adprhl2 has been classified as Green List (High Evidence).",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:34:12.205454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Ataxia is part of the phenotype. \nSources: Expert list; to: 14 families reported, onset is in the first years of life following normal early development. Patients have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy. \r\nSources: Expert list",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:34:04.511487+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADPRHL2 as Green List (high evidence)",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:34:04.501513+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adprhl2 has been classified as Green List (High Evidence).",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:33:28.419802+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADPRHL2 was added\ngene: ADPRHL2 was added to Regression. Sources: Expert list\nMode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADPRHL2 were set to 30100084; 30401461\nPhenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#\t618170\nReview for gene: ADPRHL2 was set to GREEN\nAdded comment: 14 families reported, onset is in the first years of life following normal early development. Patients have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy. \nSources: Expert list",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:29:38.849080+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADPRHL2 as ready",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:29:38.834447+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adprhl2 has been classified as Green List (High Evidence).",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:29:31.700462+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADPRHL2 as Green List (high evidence)",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:29:31.687062+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adprhl2 has been classified as Green List (High Evidence).",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:29:01.373148+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF2BPL as ready",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:29:01.360719+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf2bpl has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:28:57.969252+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF2BPL as Amber List (moderate evidence)",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:28:57.958805+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf2bpl has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:28:30.059863+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF2BPL as ready",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:28:30.046412+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf2bpl has been classified as Green List (High Evidence).",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:28:25.231115+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF2BPL as Green List (high evidence)",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:28:25.221968+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf2bpl has been classified as Green List (High Evidence).",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:27:41.276741+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF2BPL as ready",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:27:41.267619+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf2bpl has been classified as Green List (High Evidence).",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:27:36.488627+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF2BPL as Green List (high evidence)",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:27:36.480040+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf2bpl has been classified as Green List (High Evidence).",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:26:59.670454+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPK8IP3 as ready",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:26:59.659393+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Green List (High Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:26:54.223275+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPK8IP3 as Green List (high evidence)",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:26:54.214069+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Green List (High Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:26:14.840611+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FDX2 as ready",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:26:14.828257+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:26:02.887397+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FDX2 as Amber List (moderate evidence)",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:26:02.877016+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:24:51.360619+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB3GAP2 as ready",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:24:51.356201+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Syndromic spasticity.",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:24:51.322521+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:24:38.956321+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB3GAP2 as Green List (high evidence)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:24:38.940923+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:06:00.213555+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.105",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RAB3GAP2 was added\ngene: RAB3GAP2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB3GAP2 were set to PMID: 32376645\nPhenotypes for gene: RAB3GAP2 were set to Martsolf syndrome\t212720\nReview for gene: RAB3GAP2 was set to GREEN\nAdded comment: PMID: 32376645 - 1 patient with bilateral clinodactyly and syndactyly, normal MRI and learning difficulties. Review of previous reports notes 9 additional patients (4 families) with Marsolf syndrome, with postnatal microcephaly (5/9), congenital cataracts (7/9), limb spasticity (7/9) and optic nerve atrophy (2/9). \nSources: Literature",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:01:44.724857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPR161 as ready",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:01:44.710522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr161 has been classified as Green List (High Evidence).",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:01:11.428433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPR161 as Green List (high evidence)",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:01:11.418821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr161 has been classified as Green List (High Evidence).",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2020-07-06T14:00:52.897336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPR161 was added\ngene: GPR161 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GPR161 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GPR161 were set to 31609649\nPhenotypes for gene: GPR161 were set to Predisposition to paediatric medulloblastoma\nReview for gene: GPR161 was set to GREEN\nAdded comment: 6 unrelated individuals reported with germline variants, 5 with truncating, one missense. Somatic second hit in tumour tissue. \nSources: Literature",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2020-07-06T13:53:34.904166+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.67",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: FDX2 was added\ngene: FDX2 was added to Hereditary Neuropathy - complex. Sources: Expert Review\nMode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FDX2 were set to 30010796; 24281368; 28803783\nPhenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy\t(MIM#251900)\nReview for gene: FDX2 was set to AMBER\nAdded comment: Gene previously known as FDX1L. Limited evidence (1 family) suporting neuropathy being a feature of the associated condition\r\n\r\nPMID: 30010796: Reported same variant in 2 apparently unrelated Brazilian families. Axonal\r\nsensori-motor polyneuropathy reported in 4 out of the 6 patients. OMIM notes that peripheral neuropathy has onset in the second decade. \nSources: Expert Review",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-07-06T13:44:19.470769+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.105",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MAPK8IP3 was added\ngene: MAPK8IP3 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAPK8IP3 were set to PMID: 30612693; 30945334\nPhenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities\t618443\nReview for gene: MAPK8IP3 was set to GREEN\nAdded comment: PMID: 30612693 - 13 unrelated children patients with de novo variants, supported by functional studies. Patients have developmental delay (13/13), spasticity (4/13), ataxia (2/13), unstable gait (1/13), microcephaly (3/13), generalized seizures (3/13). No signs of regression, but cerebellar atrophy (3/12), thin corpus callosum (4/10), perisylvian polymicrogyria (2/12), white matter loss (4/12) was noted\r\n\r\nPMID: 30945334 - 5 child patients (4 families) with spastic diplegia (4/5), ID (5/5), epilepsy (2/5) and cerebellar atrophy (5/5), corpus callosum hypoplasia (5/5). No regression. \nSources: Expert list",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-07-06T13:27:11.580286+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.69",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: IRF2BPL was added\ngene: IRF2BPL was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IRF2BPL were set to PMID: 30057031; 30166628\nPhenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088\nReview for gene: IRF2BPL was set to GREEN\nAdded comment: PMID: 30057031 - 7 patients with neurodevelopmental regression (5/7), progressive ataxia (5/7), seizures (7/7), spasticity (2/7), dystonia (3/7) and global devel delay (7/7). PTCs produced a more severe phenotype than missense. Onset was in childhood. Cerebellar changes also less frequently reported.\r\n\r\nPMID: 30166628 - 11 patients with de novo PTCs with childhood neurological regression, epilepsy (7/11), hypotonia (5/11), dystonia (3/11), cerebellar atrophy (5/10). MRI showed CNS defects in 6/10 patients. \nSources: Literature",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T13:25:43.643327+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.121",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: IRF2BPL was added\ngene: IRF2BPL was added to Regression. Sources: Literature\nMode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IRF2BPL were set to PMID: 30057031; 30166628\nPhenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures\t618088\nReview for gene: IRF2BPL was set to GREEN\nAdded comment: PMID: 30057031 - 7 patients with neurodevelopmental regression (5/7), progressive ataxia (5/7), seizures (7/7), spasticity (2/7), dystonia (3/7) and global devel delay (7/7). PTCs produced a more severe phenotype than missense. Onset was in childhood. Cerebellar changes also less frequently reported.\r\n\r\nPMID: 30166628 - 11 patients with de novo PTCs with childhood neurological regression, epilepsy (7/11), hypotonia (5/11), dystonia (3/11), cerebellar atrophy (5/10). MRI showed CNS defects in 6/10 patients. \nSources: Literature",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T13:24:29.618764+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.105",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: IRF2BPL was added\ngene: IRF2BPL was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IRF2BPL were set to PMID: 30057031; 30166628\nPhenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures\t618088\nReview for gene: IRF2BPL was set to AMBER\nAdded comment: PMID: 30057031 - 7 patients with neurodevelopmental regression (5/7), progressive ataxia (5/7), seizures (7/7), spasticity (2/7), dystonia (3/7) and global devel delay (7/7). PTCs produced a more severe phenotype than missense. Onset was in childhood. Cerebellar changes also less frequently reported.\r\n\r\nPMID: 30166628 - 11 patients with de novo PTCs with childhood neurological regression, epilepsy (7/11), hypotonia (5/11), dystonia (3/11), cerebellar atrophy (5/10). MRI showed CNS defects in 6/10 patients. \nSources: Expert list",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-07-06T13:22:47.104226+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.67",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: ADPRHL2 was added\ngene: ADPRHL2 was added to Hereditary Neuropathy - complex. Sources: Expert Review\nMode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADPRHL2 were set to 30100084; 30401461\nPhenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170)\nReview for gene: ADPRHL2 was set to GREEN\nAdded comment: Peripheral (sensori-)motor axonal neuropathy is a feature of this progressive neurodegenerative disorder. >5 families have been reported. \nSources: Expert Review",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T13:03:26.425326+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.737",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GRN was added\ngene: GRN was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRN were set to PMID: 22608501; 31855245\nPhenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11\t614706\nReview for gene: GRN was set to GREEN\nAdded comment: PMID: 22608501 - 2 siblings with a homozygous PTC and neuronal ceroid lipofuscinosis. Both showed vision deterioration in their mid 20s, with MRI revealing cerebellar atrophy and ataxia\r\n\r\nPMID: 31855245 - 6 patients (4 families) with homozygous PTCs and start-loss. 5/6 report vision impairement, 6/6 cognitive deterioration, 3/6 cerebellar involvement, 3/6 seizures. Reviews previous reports, age of onset varies from 7-56 years old and seizures reported in a total of 7/11 patients. \nSources: Literature",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2020-07-06T13:02:35.311684+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.737",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30100084, 30401461; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2020-07-06T12:46:23.494420+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPR161 as ready",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2020-07-06T12:46:23.484347+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr161 has been classified as Green List (High Evidence).",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2020-07-06T12:46:14.790352+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPR161 as Green List (high evidence)",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2020-07-06T12:46:14.776990+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr161 has been classified as Green List (High Evidence).",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2020-07-06T12:24:08.225312+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.165",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GLRX5 was added\ngene: GLRX5 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLRX5 were set to PMID: 24334290; 30770271\nPhenotypes for gene: GLRX5 were set to Spasticity, childhood-onset, with hyperglycinemia 616859\nReview for gene: GLRX5 was set to GREEN\nAdded comment: PMID: 24334290 - 3 patients (3 families) with non-ketotic hyperglycinemia, supported by functional studies. Patients had normal development with childhood-onset spastic paraplegia (3/3), spinal lesion (1/3), optic atrophy (1/3) and brain signal abnormalities involving the frontal and parietal white matter (2/3)\r\n\r\nPMID: 30770271 - 1 patient with childhood onset cavitating leukoencephalopathy.\r\n\r\np.Lys51del is a recurring mutation. \nSources: Literature",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-07-06T12:23:21.973725+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.105",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GLRX5 was added\ngene: GLRX5 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLRX5 were set to PMID: 24334290; 30770271\nPhenotypes for gene: GLRX5 were set to Spasticity, childhood-onset, with hyperglycinemia\t616859\nReview for gene: GLRX5 was set to AMBER\nAdded comment: PMID: 24334290 - 3 patients (3 families) with non-ketotic hyperglycinemia, supported by functional studies. Patients had normal development with childhood-onset spastic paraplegia (3/3), spinal lesion (1/3), optic atrophy (1/3) and brain signal abnormalities involving the frontal and parietal white matter (2/3)\r\n\r\nPMID: 30770271 - 1 patient with childhood onset cavitating leukoencephalopathy.\r\n\r\np.Lys51del is a recurring mutation. \nSources: Expert list",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-07-06T12:03:27.474180+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.121",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CACNA1E was added\ngene: CACNA1E was added to Regression. Sources: Literature\nMode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CACNA1E were set to PMID: 30343943\nPhenotypes for gene: CACNA1E were set to Epileptic encephalopathy, early infantile, 69 618285\nMode of pathogenicity for gene: CACNA1E was set to Other\nReview for gene: CACNA1E was set to GREEN\nAdded comment: PMID: 30343943 - 30 patients with de novo variants and early-onset developmental and epileptic encephalopathy. Patients had developmental regression (9/30), severe hypotonia (16/30), seizures (26/30), congenital joint contractures (13/30), macrocephaly (13/30). MRI shows white matter loss, cortical atrophy\r\nVariants showed a GOF and LOF. \nSources: Literature",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T12:02:39.453329+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.69",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CACNA1E was added\ngene: CACNA1E was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CACNA1E were set to PMID: 30343943\nPhenotypes for gene: CACNA1E were set to Epileptic encephalopathy, early infantile, 69\t618285\nMode of pathogenicity for gene: CACNA1E was set to Other\nAdded comment: PMID: 30343943 - 30 patients with de novo variants and early-onset developmental and epileptic encephalopathy. Patients had developmental regression (9/30), severe hypotonia (16/30), seizures (26/30), congenital joint contractures (13/30), macrocephaly (13/30). MRI shows white matter loss, cortical atrophy\r\nVariants showed a GOF and LOF. \nSources: Literature",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T12:01:51.303344+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.41",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CACNA1E was added\ngene: CACNA1E was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CACNA1E were set to PMID: 30343943\nPhenotypes for gene: CACNA1E were set to Epileptic encephalopathy, early infantile, 69\t618285\nMode of pathogenicity for gene: CACNA1E was set to Other\nReview for gene: CACNA1E was set to GREEN\nAdded comment: PMID: 30343943 - 30 patients with de novo variants and early-onset developmental and epileptic encephalopathy. Patients had developmental regression (9/30), severe hypotonia (16/30), seizures (26/30), congenital joint contractures (13/30), macrocephaly (13/30). MRI shows white matter loss, cortical atrophy\r\nVariants showed a GOF and LOF. \nSources: Literature",
"entity_name": "CACNA1E",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:49:15.851906+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.67",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ATP6AP2 was added\ngene: ATP6AP2 was added to Hereditary Neuropathy - complex. Sources: Expert list\nMode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATP6AP2 were set to PMID: 30985297; 23595882\nPhenotypes for gene: ATP6AP2 were set to ?Parkinsonism with spasticity, X-linked\t300911\nReview for gene: ATP6AP2 was set to GREEN\nAdded comment: PMID: 30985297 - 1 de novo male patient with postnatal neurodegeneration, seizures, mild face dysmorphism. Sequential MRI revealed decreasing gray and white matter volumes. Patient has a splice variant proven to cause alternative transcript expression. Supported by null mouse model.\r\n\r\nPMID: 23595882 - 2 patients (1 family) with a synonymous variant proven to affect splicing. Patients have X-linked parkinsonian syndrome\r\n\r\nSummary: 2 unrelated patients + animal models \nSources: Expert list",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:38:39.620413+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPR161 was added\ngene: GPR161 was added to Cancer Predisposition_Paediatric. Sources: Literature\nMode of inheritance for gene: GPR161 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GPR161 were set to 31609649\nPhenotypes for gene: GPR161 were set to Predisposition to paediatric medulloblastoma\nReview for gene: GPR161 was set to GREEN\nAdded comment: 6 unrelated individuals reported with germline variants, 5 with truncating, one missense. Somatic second hit in tumour tissue. \nSources: Literature",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:28:07.977208+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.135",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ADD3 was added\ngene: ADD3 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADD3 were set to PMID: 23836506; 29768408\nPhenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3\t617008\nReview for gene: ADD3 was set to GREEN\nAdded comment: PMID: 29768408;23836506 - 9/10 patients (4 families) with borderline microcephaly \nSources: Literature",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:27:15.521573+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.149",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ADD3 was added\ngene: ADD3 was added to Cataract. Sources: Literature\nMode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADD3 were set to PMID: 29768408; 23836506\nPhenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3\t617008\nReview for gene: ADD3 was set to AMBER\nAdded comment: PMID: 29768408;23836506 - 4/5 patients (2 families) with early-onset bilateral cataracts\r\n\r\nTwo families, emerging gene \nSources: Literature",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:25:58.849174+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD1B as ready",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:25:58.834084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd1b has been classified as Green List (High Evidence).",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:25:51.404750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD1B were changed from to Epilepsy with myoclonic absences; intellectual disability; SETD1B-related neurodevelopmental disorder",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:25:32.562060+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD1B were set to ",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:25:14.773557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:24:56.784329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SETD1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32546566, 29322246, 31440728, 31685013; Phenotypes: Epilepsy with myoclonic absences, intellectual disability, SETD1B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:24:39.421479+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 3, possibly 5, individuals reported with de novo variants in this gene and a neurodevelopmental disorder including seizures.; to: At least 7, possibly 9, individuals reported with de novo variants in this gene and a neurodevelopmental disorder including seizures.",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:24:12.234119+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SETD1B: Changed phenotypes: Epilepsy with myoclonic absences, intellectual disability, SETD1B-related neurodevelopmental disorder",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:23:57.822357+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SETD1B: Changed publications: 32546566, 29322246, 31440728, 31685013",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:23:01.932091+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD1B were changed from Epilepsy with myoclonic absences; intellectual disability to Epilepsy with myoclonic absences; intellectual disability; SETD1B-related neurodevelopmental disorder",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:22:10.637301+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD1B were set to 32546566",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:21:32.987073+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 4 unrelated individuals reported.; to: At least 7 unrelated individuals reported.",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:21:25.510533+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SETD1B: Changed publications: 32546566, 29322246, 31440728, 31685013",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:20:02.536341+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD1B as ready",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:20:02.526096+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd1b has been classified as Green List (High Evidence).",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:17:42.895426+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD1B were changed from to SETD1B-related neurodevelopmental disorder",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:17:14.065309+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD1B were set to ",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:16:45.420524+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-06T11:16:12.378621+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SETD1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32546566; Phenotypes: SETD1B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:38:55.480676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARF1 as ready",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:38:55.468491+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arf1 has been classified as Green List (High Evidence).",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:38:45.300403+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARF1 as Green List (high evidence)",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:38:45.291209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arf1 has been classified as Green List (High Evidence).",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:38:27.921922+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARF1 was added\ngene: ARF1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARF1 were set to 28868155\nPhenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8, MIM#\t618185\nReview for gene: ARF1 was set to GREEN\nAdded comment: Three unrelated individuals reported with de novo missense in this gene. \nSources: Expert list",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:36:17.381546+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARF1 as ready",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:36:17.364819+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arf1 has been classified as Green List (High Evidence).",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:35:25.192169+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARF1 as Green List (high evidence)",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:35:25.180139+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arf1 has been classified as Green List (High Evidence).",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:34:56.296181+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARF1 was added\ngene: ARF1 was added to Periventricular Grey Matter Heterotopia. Sources: Expert list\nMode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARF1 were set to 28868155\nPhenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8, MIM#\t618185\nReview for gene: ARF1 was set to GREEN\nAdded comment: Three unrelated individuals reported with de novo missense in this gene. \nSources: Expert list",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:30:57.608156+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP1B were changed from Intellectual disability; seizures; PVNH; dysmorphic features to Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:30:21.484603+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAP1B: Changed phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features, Periventricular nodular heterotopia 9, MIM# 618918",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:30:05.085607+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP1B were changed from Intellectual disability; seizures; PVNH; dysmorphic features to Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:29:31.180273+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAP1B: Changed phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features, Periventricular nodular heterotopia 9, MIM# 618918",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:29:17.469783+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP1B as ready",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:29:17.455470+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map1b has been classified as Green List (High Evidence).",
"entity_name": "MAP1B",
"entity_type": "gene"
}
]
}