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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=701",
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"results": [
{
"created": "2022-11-03T14:57:33.388747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.445",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PI4K2A as Green List (high evidence)",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:57:33.379917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.445",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pi4k2a has been classified as Green List (High Evidence).",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:54:39.222982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.444",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: PI4K2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564627, 35880319, 19581584; Phenotypes: complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:51:43.498965+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5014",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PI4K2A as Green List (high evidence)",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:51:43.474435+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5014",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pi4k2a has been classified as Green List (High Evidence).",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:51:25.008494+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.219",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: WNK2 as ready",
"entity_name": "WNK2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:51:24.987523+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.219",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: wnk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNK2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:51:16.564595+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.219",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: WNK2 as Amber List (moderate evidence)",
"entity_name": "WNK2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:51:16.556694+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.219",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: wnk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNK2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:50:51.110336+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.218",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: WNK2 as Amber List (moderate evidence)",
"entity_name": "WNK2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:50:51.096637+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.218",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: wnk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNK2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:50:00.390154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYCBP2 as ready",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:50:00.382477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycbp2 has been classified as Green List (High Evidence).",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:49:59.609128+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5013",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PI4K2A was added\ngene: PI4K2A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PI4K2A were set to 30564627; 35880319; 19581584\nPhenotypes for gene: PI4K2A were set to complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516\nReview for gene: PI4K2A was set to GREEN\nAdded comment: Two reportedly unrelated, consanguine families with the same hom stop mutation in PI4K2A, p.(Arg309Ter). Probands with seizures, developmental delay, hypotonia/dystonia, myoclonus and developmental delay. MRI showed extensive brain abnormalities including dysgenesis of the corpus callosum, ventriculomegaly, and white matter volume loss.\r\n\r\nFunctional studies showed cellular mislocalisation of the Arg309Ter truncated protein construct compared to WT and an missense control.\r\n\r\nAn earlier paper from 2018 described two additional probands with a different stop mutation, p.(Ser22Ter), and overlapping phenotypic presentation.\r\n\r\nin 2011, a Pi4k2a knock-out mouse model was described. \"Knock-out animals initially appeared normal but later develop a progressive neurological dis-ease characterized by tremor, limb weakness, urinary incontinence and premature mortality. Histological analysis revealed massive axonal degeneration in the spinal cord in the descending corticospinal tracts.\" \nSources: Literature",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:49:42.525110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYCBP2 as Green List (high evidence)",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:49:42.517735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycbp2 has been classified as Green List (High Evidence).",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:49:09.489095+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.161",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: CAMSAP1 was added\ngene: CAMSAP1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAMSAP1 were set to 36283405\nPhenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related\nReview for gene: CAMSAP1 was set to GREEN\nAdded comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures. \nSources: Literature",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:48:56.415246+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMSAP1 as ready",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:48:56.405809+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Green List (High Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:48:46.762287+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAMSAP1 as Green List (high evidence)",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:48:46.747488+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Green List (High Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:47:57.804502+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMSAP1 as ready",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:47:57.783791+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Green List (High Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:47:57.121519+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1799",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: CAMSAP1 was added\ngene: CAMSAP1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAMSAP1 were set to 36283405\nPhenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related\nReview for gene: CAMSAP1 was set to GREEN\nAdded comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures. \nSources: Literature",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:47:51.228700+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAMSAP1 as Green List (high evidence)",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:47:51.219890+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Green List (High Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:47:15.696592+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMSAP1 as ready",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:47:15.682136+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Green List (High Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:47:11.267431+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAMSAP1 as Green List (high evidence)",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:47:11.258213+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Green List (High Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:46:56.316314+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5011",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: CAMSAP1 was added\ngene: CAMSAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAMSAP1 were set to 36283405\nPhenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related\nReview for gene: CAMSAP1 was set to GREEN\nAdded comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures. \nSources: Literature",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:46:32.151039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMSAP1 as ready",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:46:32.141840+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Green List (High Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:46:19.022034+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAMSAP1 as Green List (high evidence)",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:46:19.013107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Green List (High Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:46:06.997076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.442",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "commented on gene: THAP1: Monoallelic is well established with reduced penetrance.\r\n\r\nBiallelic was seen in 3 families generally with severe and early onset dystonia:\r\n\r\nPMID: 36205328: consanguineous family (gene panel), proband homozygous for p.Lys162Asn with early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction; both parents were confirmed carriers with milder features (47 yo father with tightness and difficulty with fine motor tasks, 41 yo mother with tightness).\r\n\r\nPMID: 21425335: 3 siblings are homozygous for the p.Leu32His with early-onset generalized dystonia. Carriers were unaffected.\r\n\r\nPMID: 20211909: a homozygous variant was identified in an individual with with writer's dystonia initially and then developing segmental dystonia, onset at 57 yo, parents could not be tested.",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:45:47.904157+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMSAP1 as ready",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:45:47.896621+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Green List (High Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:45:46.275242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.442",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: CAMSAP1 was added\ngene: CAMSAP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAMSAP1 were set to 36283405\nPhenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related\nReview for gene: CAMSAP1 was set to GREEN\nAdded comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures. \nSources: Literature",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:45:43.186950+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAMSAP1 as Green List (high evidence)",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:45:43.178765+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Green List (High Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:45:34.242466+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1799",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PI4K2A as ready",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:45:34.232489+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1799",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pi4k2a has been classified as Green List (High Evidence).",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:45:19.035142+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1799",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PI4K2A as Green List (high evidence)",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:45:19.027057+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1799",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pi4k2a has been classified as Green List (High Evidence).",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:44:10.275961+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.217",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: WNK2 was added\ngene: WNK2 was added to Incidentalome. Sources: Literature\nMode of inheritance for gene: WNK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WNK2 were set to PMID: 36270769\nPhenotypes for gene: WNK2 were set to Serrated polyposis syndrome\nReview for gene: WNK2 was set to AMBER\nAdded comment: Germline variants identified in 15 patients (14 missense, 1 fs) diagnosed with serrated polyposis syndrome. Limited segregation studies in 2 families (1 sibling in each family). Functional studies suggested germline WNK2 variants affect protein function in the context of the MAPK pathway. \nSources: Literature",
"entity_name": "WNK2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:43:50.598011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.442",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36205328, 21425335, 20211909; Phenotypes: Dystonia 6, torsion, (MIM#60262); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:42:58.681838+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.11",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: CAMSAP1 was added\ngene: CAMSAP1 was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAMSAP1 were set to 36283405\nPhenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related\nReview for gene: CAMSAP1 was set to GREEN\nAdded comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures. \nSources: Literature",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:41:49.921974+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.442",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "gene: MYCBP2 was added\ngene: MYCBP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYCBP2 were set to PMID: 36200388\nPhenotypes for gene: MYCBP2 were set to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities\nPenetrance for gene: MYCBP2 were set to Complete\nReview for gene: MYCBP2 was set to GREEN\nAdded comment: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and neurodevelopmental spectrum disorder specifically corpus callosum defects. \nSources: Literature",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:41:45.426668+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL20 as ready",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:41:45.416571+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl20 has been classified as Green List (High Evidence).",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:41:28.368655+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.485",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: CAMSAP1 was added\ngene: CAMSAP1 was added to Callosome. Sources: Literature\nMode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAMSAP1 were set to 36283405\nPhenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related\nReview for gene: CAMSAP1 was set to GREEN\nAdded comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures. \nSources: Literature",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:41:13.996050+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLHL20 as Green List (high evidence)",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:41:13.988145+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl20 has been classified as Green List (High Evidence).",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:40:43.822862+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1798",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PI4K2A was added\ngene: PI4K2A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PI4K2A were set to 30564627; 35880319; 19581584\nPhenotypes for gene: PI4K2A were set to complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516\nReview for gene: PI4K2A was set to GREEN\nAdded comment: Two reportedly unrelated, consanguine families with the same hom stop mutation in PI4K2A, p.(Arg309Ter). Probands with seizures, developmental delay, hypotonia/dystonia, myoclonus and developmental delay. MRI showed extensive brain abnormalities including dysgenesis of the corpus callosum, ventriculomegaly, and white matter volume loss.\r\n\r\nFunctional studies showed cellular mislocalisation of the Arg309Ter truncated protein construct compared to WT and an missense control.\r\n\r\nAn earlier paper from 2018 described two additional probands with a different stop mutation, p.(Ser22Ter), and overlapping phenotypic presentation.\r\n\r\nin 2011, a Pi4k2a knock-out mouse model was described. \"Knock-out animals initially appeared normal but later develop a progressive neurological dis-ease characterized by tremor, limb weakness, urinary incontinence and premature mortality. Histological analysis revealed massive axonal degeneration in the spinal cord in the descending corticospinal tracts.\" \nSources: Literature",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:40:08.954701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL20 as ready",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:40:08.946572+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl20 has been classified as Green List (High Evidence).",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:39:57.354740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLHL20 as Green List (high evidence)",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:39:57.347268+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl20 has been classified as Green List (High Evidence).",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:39:27.734729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.441",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: KLHL20 was added\ngene: KLHL20 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLHL20 were set to PMID: 36214804\nPhenotypes for gene: KLHL20 were set to Neurodevelopmental disorder (MONDO:0700092), KLHL20-related\nReview for gene: KLHL20 was set to GREEN\nAdded comment: PMID: 36214804\r\n- 14 patients with de novo missense variants in KLHL20. The patients had mild to severe ID, febrile seizures or epilepsy, autism spectrum disorder, hyperactivity and subtle dysmorphic facial features. \nSources: Literature",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:39:13.301345+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYCBP2 as ready",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:39:13.290158+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycbp2 has been classified as Green List (High Evidence).",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:39:07.145205+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYCBP2 were changed from Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:38:41.991804+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1797",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "edited their review of gene: MYCBP2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related corpus callosum abnormalities",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:38:32.868497+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYCBP2 were changed from intellectual disability, epilepsy, autistic features and callosum abnormalities to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:37:31.349518+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYCBP2 as Green List (high evidence)",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:37:31.340056+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycbp2 has been classified as Green List (High Evidence).",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:37:17.125955+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1795",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: KLHL20 was added\ngene: KLHL20 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLHL20 were set to PMID: 36214804\nPhenotypes for gene: KLHL20 were set to Neurodevelopmental disorder (MONDO:0700092), KLHL20-related\nReview for gene: KLHL20 was set to GREEN\nAdded comment: PMID: 36214804\r\n- 14 patients with de novo missense variants in KLHL20. The patients had mild to severe ID, febrile seizures or epilepsy, autism spectrum disorder, hyperactivity and subtle dysmorphic facial features. \nSources: Literature",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:36:55.392019+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYCBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36200388; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related, corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:35:28.547855+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1795",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "gene: MYCBP2 was added\ngene: MYCBP2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYCBP2 were set to PMID: 36200388\nPhenotypes for gene: MYCBP2 were set to intellectual disability, epilepsy, autistic features and callosum abnormalities\nPenetrance for gene: MYCBP2 were set to Complete\nReview for gene: MYCBP2 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:34:31.422600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.441",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: FICD as ready",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:34:31.413841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.441",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ficd has been classified as Green List (High Evidence).",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:34:24.319926+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL20 as ready",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:34:24.303874+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl20 has been classified as Green List (High Evidence).",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:34:22.228582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.441",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: FICD as Green List (high evidence)",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:34:22.218167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.441",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ficd has been classified as Green List (High Evidence).",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:34:16.113144+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLHL20 as Green List (high evidence)",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:34:16.103886+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl20 has been classified as Green List (High Evidence).",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:33:56.595345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.440",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: FICD was added\ngene: FICD was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FICD were set to 36136088\nPhenotypes for gene: FICD were set to Hereditary motor neurone disease, FICD-related, MONDO:0024257\nReview for gene: FICD was set to GREEN\nAdded comment: Three unrelated families with recurrent homozygous missense variant: p.Arg374His\r\nOne further family with Chet variants: p.Arg 374His and p.Gly370GlufsTer53\r\n\r\nFibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP.\r\n\r\nOnset of symptoms in childhood with progressive course. Presentation with severe lower limb spasticity and mild upper limb spascticity, nerve conduction test shows motor neuropathy. \nSources: Literature",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:33:35.931599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.439",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: METTL23: Rating: AMBER; Mode of pathogenicity: None; Publications: 36099048; Phenotypes: glaucoma MONDO:0005041; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "METTL23",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:33:23.434852+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYCBP2 as ready",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:33:23.425200+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycbp2 has been classified as Green List (High Evidence).",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:33:17.859758+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYCBP2 were changed from neurodevelopmental spectrum disorder with corpus callosum defects to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:32:45.374507+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYCBP2 as Green List (high evidence)",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:32:45.364775+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycbp2 has been classified as Green List (High Evidence).",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:32:24.323300+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5008",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "edited their review of gene: MYCBP2: Changed phenotypes: intellectual disability, epilepsy, autistic features and callosum abnormalities,",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:32:07.005179+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYCBP2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related, corpus callosum abnormalities",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:31:54.490378+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYCBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36200388; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related, corpus callosum abnormalitie; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:31:52.199897+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5008",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: KLHL20 was added\ngene: KLHL20 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLHL20 were set to PMID: 36214804\nPhenotypes for gene: KLHL20 were set to Neurodevelopmental disorder (MONDO:0700092), KLHL20-related\nReview for gene: KLHL20 was set to GREEN\nAdded comment: PMID: 36214804\r\n- 14 patients with de novo missense variants in KLHL20. The patients had mild to severe ID, febrile seizures or epilepsy, autism spectrum disorder, hyperactivity and subtle dysmorphic facial features. \nSources: Literature",
"entity_name": "KLHL20",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:31:49.548363+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.50",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: FICD as ready",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:31:49.539440+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.50",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ficd has been classified as Green List (High Evidence).",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:31:38.253179+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.50",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: FICD as Green List (high evidence)",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:31:38.240526+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.50",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ficd has been classified as Green List (High Evidence).",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:31:21.623798+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.49",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: FICD was added\ngene: FICD was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FICD were set to 36136088\nPhenotypes for gene: FICD were set to Hereditary motor neurone disease, FICD-related, MONDO:0024257\nReview for gene: FICD was set to GREEN\nAdded comment: Three unrelated families with recurrent homozygous missense variant: p.Arg374His\r\nOne further family with Chet variants: p.Arg 374His and p.Gly370GlufsTer53\r\n\r\nFibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP.\r\n\r\nOnset of symptoms in childhood with progressive course. Presentation with severe lower limb spasticity and mild upper limb spascticity, nerve conduction test shows motor neuropathy. \nSources: Literature",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:29:36.640341+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5008",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "gene: MYCBP2 was added\ngene: MYCBP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYCBP2 were set to PMID: 36200388\nPhenotypes for gene: MYCBP2 were set to neurodevelopmental spectrum disorder with corpus callosum defects\nPenetrance for gene: MYCBP2 were set to Complete\nReview for gene: MYCBP2 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "MYCBP2",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:28:21.392338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXI3 as ready",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:28:21.385005+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxi3 has been classified as Green List (High Evidence).",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:27:55.966125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:27:33.923034+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXI3 as Green List (high evidence)",
"entity_name": "FOXI3",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:27:33.914336+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxi3 has been classified as Green List (High Evidence).",
"entity_name": "FOXI3",
"entity_type": "gene"
}
]
}