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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1599",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1597",
"results": [
{
"created": "2020-09-11T16:04:07.638405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OCA2 were changed from to [Skin/hair/eye pigmentation 1, blond/brown hair] 227220; [Skin/hair/eye pigmentation 1, blue/nonblue eyes] 227220; Albinism, brown oculocutaneous 203200; Albinism, oculocutaneous, type II 203200; autosomal dominant Albinism, oculocutaneous",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2020-09-11T16:03:41.330242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OCA2 were set to ",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2020-09-11T16:03:22.242269+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OCA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2020-09-11T16:02:42.252871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4309",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "changed review comment from: Single variant found causing AD OCA - p.G780S in two families (Lee, 2020) -> GOF suggested\r\n\r\nComplete penetrance for oculocutaneous albininism but variable expressivity (PMID: 24518832). No variable expressivity or incomplete penetrance reported in GeneReviews.\r\n\r\nLoss of function; to: Single variant found causing AD OCA - p.G780S in two families (Lee, 2020) -> GOF suggested\r\n\r\nComplete penetrance for oculocutaneous albininism but variable expressivity (PMID: 24518832). No variable expressivity or incomplete penetrance reported in GeneReviews.\r\n\r\nLoss of function\r\n\r\n 2.7kb deletion is very common in sub-Saharan African populations (GeneReviews)",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2020-09-11T16:00:58.960937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4309",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32741191, 24518832; Phenotypes: [Skin/hair/eye pigmentation 1, blond/brown hair] 227220, [Skin/hair/eye pigmentation 1, blue/nonblue eyes] 227220, Albinism, brown oculocutaneous 203200, Albinism, oculocutaneous, type II 203200, autosomal dominant Albinism, oculocutaneous; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2020-09-11T14:19:01.239315+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGN as ready",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2020-09-11T14:19:01.228219+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pign has been classified as Green List (High Evidence).",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2020-09-11T14:18:58.193181+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGN were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 1 to Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2020-09-11T14:18:37.795298+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGN as Green List (high evidence)",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2020-09-11T14:18:37.787247+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pign has been classified as Green List (High Evidence).",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2020-09-11T14:18:15.221209+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2020-09-11T11:20:53.605062+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.5",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: PIGN was added\ngene: PIGN was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGN were set to PMID: 27038415; 24852103\nPhenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1\nPenetrance for gene: PIGN were set to Complete\nReview for gene: PIGN was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2020-09-11T09:54:30.509727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: MIM #617865 (NEDMAGA): A recurrent de novo heterozygous truncating mutation in the ZSWIM6 gene (R913X)identified in 7 unrelated patients. Analysis of patient cells indicated that the mutant transcript escaped nonsense-mediated mRNA decay, and most likely produced a truncated protein, although antibody studies were unable to detect a truncated protein. Possible dominant-negative effect. NB a more proximal nonsense variant was also reported inherited in a family with an unaffected mother: loss of function variants may not cause a phenotype.\r\nMIM#603671 (acromelic frontonasal dysplasia): recurrent missense identified in 6 unrelated families, p.Arg1163Trp; to: MIM #617865 (NEDMAGA): A recurrent de novo heterozygous truncating mutation in the ZSWIM6 gene (R913X) identified in 7 unrelated patients. Analysis of patient cells indicated that the mutant transcript escaped nonsense-mediated mRNA decay, and most likely produced a truncated protein, although antibody studies were unable to detect a truncated protein. Possible dominant-negative effect. NB a more proximal nonsense variant was also reported inherited in a family with an unaffected mother: loss of function variants may not cause a phenotype.\r\nMIM#603671 (acromelic frontonasal dysplasia): recurrent missense identified in 6 unrelated families, p.Arg1163Trp",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-09-11T09:54:14.634035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: MIM #617865 A recurrent de novo heterozygous truncating mutation in the ZSWIM6 gene (R913X)identified in 7 unrelated patients. Analysis of patient cells indicated that the mutant transcript escaped nonsense-mediated mRNA decay, and most likely produced a truncated protein, although antibody studies were unable to detect a truncated protein. Possible dominant-negative effect. NB a more proximal nonsense variant was also reported inherited in a family with an unaffected mother: loss of function variants may not cause a phenotype.\r\nMIM#603671: recurrent missense identified in 6 unrelated families, p.Arg1163Trp; to: MIM #617865 (NEDMAGA): A recurrent de novo heterozygous truncating mutation in the ZSWIM6 gene (R913X)identified in 7 unrelated patients. Analysis of patient cells indicated that the mutant transcript escaped nonsense-mediated mRNA decay, and most likely produced a truncated protein, although antibody studies were unable to detect a truncated protein. Possible dominant-negative effect. NB a more proximal nonsense variant was also reported inherited in a family with an unaffected mother: loss of function variants may not cause a phenotype.\r\nMIM#603671 (acromelic frontonasal dysplasia): recurrent missense identified in 6 unrelated families, p.Arg1163Trp",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:58:12.579688+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SREBF1 were changed from IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:57:54.461343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SREBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:57:28.986078+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SREBF1 were changed from IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:57:02.165048+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SREBF1: Changed phenotypes: IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:25:08.187105+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13D as ready",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:25:08.177155+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13d has been classified as Green List (High Evidence).",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:25:05.588486+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13D were changed from to Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:23:49.308632+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS13D were set to ",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:20:23.458867+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:19:55.644779+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 29604224, 29518281; Phenotypes: Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:19:06.572764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13D as ready",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:19:06.564506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13d has been classified as Green List (High Evidence).",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:18:59.627910+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13D were changed from to Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:18:40.218758+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS13D were set to ",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:18:18.067080+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:16:52.347190+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13D as ready",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:16:52.337671+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13d has been classified as Green List (High Evidence).",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:16:48.280464+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS13D as Green List (high evidence)",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:16:48.270659+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13d has been classified as Green List (High Evidence).",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:16:40.089930+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS13D was added\ngene: VPS13D was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS13D were set to 29604224; 29518281\nPhenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, MIM#\t607317\nReview for gene: VPS13D was set to GREEN\nAdded comment: 7 unrelated families reported and a mouse model. Most affected individuals have ataxic gait with spasticity and hyperreflexia of the lower limbs resulting in difficulty walking. The age at onset is highly variable: some have onset in early childhood with delayed walking, whereas others have onset of gait difficulties in adulthood. Additional features may include dysarthria, oculomotor abnormalities, distal sensory impairment, dystonia, chorea, hypotonia, pyramidal signs, and cerebellar atrophy on brain imaging. The disorder is slowly progressive. Some individuals with onset in childhood may have global developmental delay with mild intellectual disability. \nSources: Expert list",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:12:37.604475+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VAMP2 as ready",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:12:37.595457+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vamp2 has been classified as Green List (High Evidence).",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:12:18.591719+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VAMP2 as Green List (high evidence)",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:12:18.583568+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vamp2 has been classified as Green List (High Evidence).",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:12:09.611163+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VAMP2 was added\ngene: VAMP2 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VAMP2 were set to 30929742\nPhenotypes for gene: VAMP2 were set to Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760; Dystonia; Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability\nReview for gene: VAMP2 was set to GREEN\nAdded comment: 5 unrelated patients with heterozygous de novo mutations in VAMP2, presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The abnormal movements included dystonia. \nSources: Expert list",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:09:47.007989+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VAMP2 were changed from Intellectual disability; autism; no OMIM number yet to Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760; Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:09:09.626691+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760, Cortical visual impairment, Seizures, Stereotypic behaviour, Generalized hypotonia, Intellectual disability; Mode of inheritance: None",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:08:39.467645+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VAMP2 were changed from Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability to Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements\t618760; Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:08:07.311211+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VAMP2: Changed phenotypes: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760, Cortical visual impairment, Seizures, Stereotypic behaviour, Generalized hypotonia, Intellectual disability",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:07:46.579556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VAMP2 were changed from Intellectual disability; Autism to Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements\t618760; Intellectual disability; Autism",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:07:22.399525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VAMP2: Changed phenotypes: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760, Intellectual disability, Autism",
"entity_name": "VAMP2",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:05:37.064400+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VAMP1 as ready",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:05:37.045535+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vamp1 has been classified as Green List (High Evidence).",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:05:28.853001+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VAMP1 as Green List (high evidence)",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:05:28.844352+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vamp1 has been classified as Green List (High Evidence).",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-11T08:05:21.236169+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VAMP1 was added\ngene: VAMP1 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VAMP1 were set to 22958904\nPhenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, MIM#\t108600\nReview for gene: VAMP1 was set to GREEN\nAdded comment: Autosomal dominant neurodegenerative disorder characterised by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Onset is between the ages of 10 and 20 years. Other clinical features are supranuclear gaze palsy, hyperreflexia, hypertonicity, dystonia, pes cavus, mild ptosis, and decreased vibration sense in the lower limbs. \nSources: Expert list",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-09-11T06:32:43.106864+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SURF1 as ready",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2020-09-11T06:32:43.098693+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Green List (High Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2020-09-11T06:32:38.998750+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SURF1 as Green List (high evidence)",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2020-09-11T06:32:38.988793+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Green List (High Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2020-09-11T06:32:30.027994+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SURF1 was added\ngene: SURF1 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SURF1 were set to 19780766\nPhenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, MIM#\t256000\nReview for gene: SURF1 was set to GREEN\nAdded comment: SURF1 gene mutations are the most common cause of Leigh syndrome (LS), a progressive neurodegenerative disorder of infancy, characterised by symmetric necrotizing lesions and hypervascularity in the brainstem and basal ganglia. Dystonia is part of the phenotype, particularly in those with milder phenotypes/missense variants. \nSources: Expert list",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2020-09-10T19:01:18.580862+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SQSTM1 as ready",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-09-10T19:01:18.570113+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sqstm1 has been classified as Green List (High Evidence).",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-09-10T19:01:14.819806+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SQSTM1 were changed from to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-09-10T19:00:57.388853+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SQSTM1 were set to ",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-09-10T19:00:22.411692+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SQSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:59:50.006669+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:59:24.502330+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SQSTM1 were changed from Myopathy, distal, with rimmed vacuoles\t617158 to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:59:09.158503+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:50:32.100525+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FARSA as ready",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:50:32.089690+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: farsa has been classified as Red List (Low Evidence).",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:50:25.448500+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FARSA was added\ngene: FARSA was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FARSA were set to 31355908\nPhenotypes for gene: FARSA were set to Rajab interstitial lung disease with brain calcifications 2, MIM#\t619013\nReview for gene: FARSA was set to RED\nAdded comment: Autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts. Single affected individual reported, but FARSA interacts with FARSB, which causes a similar disorder. \nSources: Expert list",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:49:13.315802+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FARSA as ready",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:49:13.306620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: farsa has been classified as Red List (Low Evidence).",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:49:03.247063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FARSA was added\ngene: FARSA was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FARSA were set to 31355908\nPhenotypes for gene: FARSA were set to Rajab interstitial lung disease with brain calcifications 2, MIM#\t619013\nReview for gene: FARSA was set to RED\nAdded comment: Autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts. Single affected individual reported, but FARSA interacts with FARSB, which causes a similar disorder. \nSources: Expert list",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:48:48.815489+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FARSA as ready",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:48:48.807115+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: farsa has been classified as Red List (Low Evidence).",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:47:40.167111+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FARSA were changed from Rajab interstitial lung disease with brain calcifications 2\t619013 to Rajab interstitial lung disease with brain calcifications 2, MIM#\t619013",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:47:02.387903+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FARSA was added\ngene: FARSA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FARSA were set to 31355908\nPhenotypes for gene: FARSA were set to Rajab interstitial lung disease with brain calcifications 2\t619013\nReview for gene: FARSA was set to RED\nAdded comment: Autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts. Single affected individual reported, but FARSA interacts with FARSB, which causes a similar disorder. \nSources: Literature",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:34:05.472251+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC20A2 as ready",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:34:05.456622+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc20a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:34:02.661248+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC20A2 were set to ",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:33:50.086961+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22327515, 23334463, 24411498; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:32:17.017235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A3 as ready",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:32:17.007734+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:32:11.100782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC1A3 were changed from to Episodic ataxia, type 6, MIM# 612656",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:31:54.956455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC1A3 were set to ",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:31:35.956854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:31:19.409692+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19139306, 16116111, 29208948, 27829685; Phenotypes: Episodic ataxia, type 6, MIM# 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:29:47.376534+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A3 as ready",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:29:47.366514+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:29:44.406409+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC1A3 were changed from to Episodic ataxia, type 6, MIM# 612656",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:29:22.209309+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC1A3 were set to ",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:28:58.974338+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-09-10T18:28:31.931590+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19139306, 16116111, 29208948, 27829685; Phenotypes: Episodic ataxia, type 6, MIM# 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-09-10T17:25:36.006999+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANGPT2 as ready",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2020-09-10T17:25:35.987664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: angpt2 has been classified as Green List (High Evidence).",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2020-09-10T17:25:14.006982+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANGPT2 as Green List (high evidence)",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2020-09-10T17:25:13.994264+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: angpt2 has been classified as Green List (High Evidence).",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2020-09-10T17:24:58.312947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANGPT2 was added\ngene: ANGPT2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ANGPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANGPT2 were set to https://stm.sciencemag.org/content/12/560/eaax8013\nPhenotypes for gene: ANGPT2 were set to Primary lymphoedema\nReview for gene: ANGPT2 was set to GREEN\nAdded comment: Five unrelated individuals reported with primary lymphedema and variants in this gene, together with functional data. \nSources: Literature",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:49:55.528505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Episodic ataxia reported in two families, but another molecular diagnosis present in the second, so suggested as a modifier. Only one individual reported with childhood-onset progressive neurological disorder as part of a large paper proposing multiple candidate genes.; to: Episodic ataxia reported in four families, but another molecular diagnosis present in the some, so suggested as a modifier. Variants are missense, with no supportive segregation or functional data, some are present at a low level in population databases. Only one individual reported with childhood-onset progressive neurological disorder as part of a large paper proposing multiple candidate genes.",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:48:13.126464+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR4 as ready",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:48:13.117413+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr4 has been classified as Red List (Low Evidence).",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:48:09.922049+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBR4 were set to PMID 23982692 PMID 29062094",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:47:35.899338+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-09-10T14:47:14.255916+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBR4 as Red List (low evidence)",
"entity_name": "UBR4",
"entity_type": "gene"
}
]
}