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{
"count": 220265,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1427",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1425",
"results": [
{
"created": "2021-02-01T19:56:49.280563+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIRA as Green List (high evidence)",
"entity_name": "HIRA",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:56:49.272932+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hira has been classified as Green List (High Evidence).",
"entity_name": "HIRA",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:55:29.723830+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EYA3 as ready",
"entity_name": "EYA3",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:55:29.713287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eya3 has been classified as Red List (Low Evidence).",
"entity_name": "EYA3",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:55:11.628811+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EYA3 as Red List (low evidence)",
"entity_name": "EYA3",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:55:11.618619+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eya3 has been classified as Red List (Low Evidence).",
"entity_name": "EYA3",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:53:18.541769+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLRN2 as ready",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:53:18.530667+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clrn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:53:14.170125+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLRN2 as Amber List (moderate evidence)",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:53:14.158510+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clrn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:52:17.990644+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLRN2 was added\ngene: CLRN2 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: CLRN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLRN2 were set to 33496845\nPhenotypes for gene: CLRN2 were set to Non-syndromic hearing loss\nReview for gene: CLRN2 was set to AMBER\nAdded comment: Missense variant segregates with non-syndromic hearing loss in 3 members of a consanguineous family, two from one nuclear family and one from another. The variant was also shown to result in some transcripts being abnormally spliced, resulting in a premature stop codon. Functional studies in zebrafish and mice show the gene plays an essential role in normal organization and maintenance of the auditory hair bundles, and for hearing function. Rated Amber due to supporting functional studies in mice. \nSources: Literature",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:50:13.980905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLRN2 as Amber List (moderate evidence)",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:50:13.969726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clrn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLRN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:28:01.640187+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3426",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: HIRA was added\ngene: HIRA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIRA were set to 33417013; 28135719; 25363760\nPhenotypes for gene: HIRA were set to Neurodevelopmental disorder\nReview for gene: HIRA was set to GREEN\ngene: HIRA was marked as current diagnostic\nAdded comment: Two unrelated patients with different de novo loss of function variants identified in PMID 33417013:\r\n\r\nIndividual 1: intragenic deletion, phenotype included psychomotor retardation, ID, growth retardation, microcephaly, and facial features reminiscent of 22q deletion syndrome.\r\nIndividual 2: canonical splice variant, phenotype mostly confined to ASD\r\n\r\nAnother two de novo variants were identified in the literature by the authors of that paper, one stop-gain (DDD study, PMID 28135719) and one missense (large autism cohort, PMID 25363760).\r\n\r\nPMID 33417013 also showed that HIRA knockdown in mice results in neurodevelopmental abnormalities.\r\n\r\nRated Green due to 4 unrelated individuals (albeit 2 in large cohort studies) and a mouse model. NB: HIRA is within the common 22q deletion region. \nSources: Literature",
"entity_name": "HIRA",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:26:32.999109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6184",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: HIRA was added\ngene: HIRA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIRA were set to 33417013; 28135719; 25363760\nPhenotypes for gene: HIRA were set to Neurodevelopmental disorder\nReview for gene: HIRA was set to GREEN\ngene: HIRA was marked as current diagnostic\nAdded comment: Two unrelated patients with different de novo loss of function variants identified in PMID 33417013:\r\n\r\nIndividual 1: intragenic deletion, phenotype included psychomotor retardation, ID, growth retardation, microcephaly, and facial features reminiscent of 22q deletion syndrome. \r\nIndividual 2: canonical splice variant, phenotype mostly confined to ASD\r\n\r\nAnother two de novo variants were identified in the literature by the authors of that paper, one stop-gain (DDD study, PMID 28135719) and one missense (large autism cohort, PMID 25363760).\r\n\r\nPMID 33417013 also showed that HIRA knockdown in mice results in neurodevelopmental abnormalities.\r\n\r\nRated Green due to 4 unrelated individuals (albeit 2 in large cohort studies) and a mouse model. NB: HIRA is within the common 22q deletion region. \nSources: Literature",
"entity_name": "HIRA",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:11:40.380159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Ataxia is a presenting feature.; to: Bi-allelic variants are associated with leukodystrophy.",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:11:16.197783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3B as ready",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:11:16.189477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3b has been classified as Green List (High Evidence).",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:11:08.231462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3B were changed from to Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:10:48.372162+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR3B were set to ",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:10:34.841901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR3B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:09:36.896032+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3B as ready",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:09:36.891001+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note bi-allelic variants in this gene cause a leukodystrophy.",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:09:36.854750+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3b has been classified as Green List (High Evidence).",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:09:21.898759+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 to Ataxia, spasticity, and demyelinating neuropathy",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:09:04.644638+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR3B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:08:13.497800+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR3B as Green List (high evidence)",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:08:13.489917+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3b has been classified as Green List (High Evidence).",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:07:20.497578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFAP47: Changed rating: GREEN",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:07:08.339862+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP47 as ready",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:07:08.336095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: 3-4 unrelated individuals and animal model.",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:07:08.306823+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap47 has been classified as Green List (High Evidence).",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:06:46.923476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP47 as Green List (high evidence)",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:06:46.915065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap47 has been classified as Green List (High Evidence).",
"entity_name": "CFAP47",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:05:57.110679+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C14orf39 as ready",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:05:57.101658+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c14orf39 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:05:52.354632+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C14orf39 as Amber List (moderate evidence)",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:05:52.345165+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c14orf39 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:05:05.229470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C14orf39 as ready",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:05:05.218402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c14orf39 has been classified as Green List (High Evidence).",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:04:54.722462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C14orf39 as Green List (high evidence)",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:04:54.714407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c14orf39 has been classified as Green List (High Evidence).",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:04:50.905041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6179",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: EYA3 was added\ngene: EYA3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EYA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: EYA3 were set to 33475861\nPhenotypes for gene: EYA3 were set to Oculo-auriculo-vertebral spectrum (OAVS)\nReview for gene: EYA3 was set to RED\ngene: EYA3 was marked as current diagnostic\nAdded comment: 3 individuals with OAVS from two unrelated families with the same missense variant, p.(Asn358Ser). Variant has 20 heterozygotes in gnomAD. Unaffected carriers in both families were also identified - unknown if incomplete penetrance or nonsegregation. \r\n\r\nFunctional studies indicate the variant increases protein half life, and gene knockdown in zebrafish had an effect on craniofacial development.\r\n\r\nRated Red due to both families sharing the variant and uncertainty about incomplete penetrance versus nonsegregation. \nSources: Literature",
"entity_name": "EYA3",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:03:56.856337+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SATB1 as ready",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:03:56.848626+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb1 has been classified as Green List (High Evidence).",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:03:53.332249+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; Intellectual disability; Seizures; Microcephaly; Regression; Movement disorder, ataxia",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:03:19.965330+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SATB1 as Green List (high evidence)",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:03:19.949483+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb1 has been classified as Green List (High Evidence).",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:03:01.944202+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression to Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:02:58.075665+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SATB1 as ready",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:02:58.067468+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb1 has been classified as Green List (High Evidence).",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:02:40.971940+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:02:18.331528+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SATB1 as Green List (high evidence)",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:02:18.314094+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb1 has been classified as Green List (High Evidence).",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:01:21.160096+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SATB1 as ready",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:01:21.147155+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb1 has been classified as Green List (High Evidence).",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:01:18.043770+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; regression",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:00:45.179668+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SATB1 as Green List (high evidence)",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T19:00:45.171030+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb1 has been classified as Green List (High Evidence).",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:59:55.000478+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSUN2 were changed from Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features to Mental retardation, autosomal recessive 5, MIM# 611091; Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:59:22.002837+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSUN2 were set to ",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:58:48.590618+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NSUN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 5, MIM# 611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:56:11.080861+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA15 as ready",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:56:11.073436+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:56:08.743255+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA15 were changed from Intellectual disability; cardiomyopathy to Mental retardation, autosomal dominant 50, MIM#\t617787; cardiomyopathy",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:55:45.632300+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA15 were changed from to Intellectual disability; cardiomyopathy",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:55:28.968352+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAA15 were set to ",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:55:22.148765+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:55:11.041118+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:53:18.713761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENO1 as ready",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:53:18.706301+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eno1 has been classified as Red List (Low Evidence).",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:53:08.871145+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ENO1 as Red List (low evidence)",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:53:08.858144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eno1 has been classified as Red List (Low Evidence).",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:52:20.406576+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNN2 as ready",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:52:20.397384+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnn2 has been classified as Green List (High Evidence).",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:52:17.384606+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental disorder; Ataxia",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:51:44.742963+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNN2 as Green List (high evidence)",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:51:44.735125+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnn2 has been classified as Green List (High Evidence).",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:50:49.177911+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3B were changed from Blepharophimosis; intellectual disability to Kaufman oculocerebrofacial syndrome, MIM# 244450; Blepharophimosis; intellectual disability",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:50:14.080742+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaufman oculocerebrofacial syndrome, MIM# 244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:49:20.215968+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FST as ready",
"entity_name": "FST",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:49:20.208558+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fst has been classified as Red List (Low Evidence).",
"entity_name": "FST",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:46:58.381266+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE1 as ready",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:46:58.373700+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe1 has been classified as Green List (High Evidence).",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:46:53.078383+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE1 were changed from Cleft palate to Bamforth-Lazarus syndrome, OMIM #241850",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:46:33.390126+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXE1 were set to ",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:46:19.425245+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:45:51.376167+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GDF11 as Amber List (moderate evidence)",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:45:51.369012+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:45:42.490802+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GDF11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:44:59.325939+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF11 as ready",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:44:59.318908+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf11 has been classified as Red List (Low Evidence).",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:44:36.171942+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI3 as ready",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:44:36.155357+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai3 has been classified as Red List (Low Evidence).",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:44:33.162637+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAI3 were changed from Cleft palate to Auriculocondylar syndrome 1, OMIM #602483",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:44:21.282958+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAI3 were set to ",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:44:10.412873+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:42:33.570114+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA2 as ready",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:42:33.559942+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa2 has been classified as Red List (Low Evidence).",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2021-02-01T18:42:26.130880+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HOXA2",
"entity_type": "gene"
}
]
}