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{
"count": 220249,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1383",
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"results": [
{
"created": "2021-03-17T08:16:06.376388+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpp2 has been classified as Green List (High Evidence).",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:15:32.325326+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPP2 was added\ngene: TPP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPP2 were set to 25525876; 25414442; 33586135; 18362329\nPhenotypes for gene: TPP2 were set to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220\nReview for gene: TPP2 was set to GREEN\nAdded comment: Immunodeficiency-78 with autoimmunity and developmental delay (IMD78) is an autosomal recessive systemic disorder characterized by onset of symptoms in early childhood. Affected individuals present with features of immune deficiency, such as recurrent sinopulmonary or skin infections, as well as autoimmunity, including autoimmune cytopenias, hemolytic anemia, and thrombocytopenia. Autoimmune hepatitis or thyroid disease and central nervous system vasculitis with stroke may also occur. There is increased susceptibility to bacterial, viral, and fungal infections. Laboratory studies show lymphopenia with advanced differentiation and premature senescence of CD8+ T cells and B cells; some patients may have hypergammaglobulinemia. The findings indicate immune dysregulation. Patients also have global developmental delay with speech delay and variable intellectual disability. Five unrelated families and a mouse model. \nSources: Expert list",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:13:50.087664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPP2 as ready",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:13:50.079521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpp2 has been classified as Green List (High Evidence).",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:13:42.614245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPP2 were changed from to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:13:22.056818+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPP2 were set to ",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:13:02.079854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:12:44.291854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25525876, 25414442, 33586135, 18362329; Phenotypes: Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:11:48.737111+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPP2 as ready",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:11:48.724797+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpp2 has been classified as Green List (High Evidence).",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:11:46.298774+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPP2 were changed from to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:10:49.254565+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPP2 were set to ",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:10:18.068575+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-17T08:09:41.852627+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25525876, 25414442, 33586135, 18362329; Phenotypes: Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:43:44.356590+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK7 as ready",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:43:44.343975+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock7 has been classified as Green List (High Evidence).",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:43:33.332764+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK7 were changed from Developmental and epileptic encephalopathy 23 MIM#615859 to Developmental and epileptic encephalopathy 23 MIM#615859; MONDO:0014371",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:43:02.497184+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK7 were changed from to Developmental and epileptic encephalopathy 23 MIM#615859",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:42:25.802226+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOCK7 were set to ",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:41:47.850982+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DOCK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:41:02.687416+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK7 as ready",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:41:02.679189+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock7 has been classified as Green List (High Evidence).",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:40:58.996152+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOCK7 were set to ",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:40:27.827296+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK7 were changed from to Developmental and epileptic encephalopathy 23 MIM#615859; MONDO:0014371",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:40:01.652570+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DOCK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:39:15.635636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK7 as ready",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:39:15.626573+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock7 has been classified as Green List (High Evidence).",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:39:07.772607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK7 were changed from Developmental and epileptic encephalopathy 23 MIM#615859 to Developmental and epileptic encephalopathy 23 MIM#615859; MONDO:0014371",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:38:46.969333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK7 were changed from to Developmental and epileptic encephalopathy 23 MIM#615859",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:38:26.891708+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOCK7 were set to ",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:38:00.784128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DOCK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:21:46.689633+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex. \nSources: Literature; to: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.\r\n\r\nPMID 32934340: additional 7 families.\r\nSources: Literature",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:21:31.622286+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBAP1: Changed publications: 31696996, 32934340; Changed phenotypes: Childhood-onset hereditary spastic paraplegia, Spastic paraplegia 80, autosomal dominant 618418",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:21:09.997467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBAP1 were set to 31203368; 31696996",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:20:43.347736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 31696996: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.; to: PMID 31696996: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.\r\n\r\nPMID 32934340: additional 7 families. Median age of onset 10yrs.",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2021-03-16T20:20:32.955470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBAP1: Changed publications: 31696996, 32934340",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2021-03-16T18:51:40.142348+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, MIM#\t604805 to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2021-03-16T18:51:18.702078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTN2 as ready",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2021-03-16T18:51:18.694380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtn2 has been classified as Green List (High Evidence).",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2021-03-16T18:51:10.930611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTN2 were changed from to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2021-03-16T18:50:49.890456+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTN2 were set to ",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2021-03-16T18:50:31.576709+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2021-03-16T18:50:13.812018+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22232211, 27165006; Phenotypes: Spastic paraplegia 12, autosomal dominant, 604805, MONDO:0011489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2021-03-16T16:47:35.417240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6739",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29276005, 30217758, 30409806; Phenotypes: Mental retardation, autosomal recessive 65 MIM#618109, autosomal dominant autism spectrum disorder or intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2021-03-16T16:26:27.149755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NIPA1 as ready",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2021-03-16T16:26:27.135129+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nipa1 has been classified as Green List (High Evidence).",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2021-03-16T16:26:19.165009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NIPA1 were changed from to Spastic paraplegia 6, autosomal dominant, MIM# 600363; MONDO:0010878",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2021-03-16T16:25:59.447034+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NIPA1 were set to ",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2021-03-16T16:25:32.114354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NIPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2021-03-16T16:25:14.278873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14508710, 15711826, 32500351, 25133278; Phenotypes: Spastic paraplegia 6, autosomal dominant, MIM# 600363, MONDO:0010878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:48:58.491097+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3521",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24814191, 30771731, 30807358; Phenotypes: Developmental and epileptic encephalopathy 23 MIM#615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:48:41.570340+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1039",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24814191, 30771731, 30807358; Phenotypes: Developmental and epileptic encephalopathy 23 MIM#615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:47:41.447972+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6736",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24814191, 30771731, 30807358; Phenotypes: Developmental and epileptic encephalopathy 23 MIM#615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DOCK7",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:25:28.855976+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDHD2 were changed from Spastic paraplegia 54, autosomal recessive, MIM#\t615033 to Spastic paraplegia 54, autosomal recessive, MIM#\t615033; MONDO:0014018",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:24:30.146634+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 7 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak. \nSources: Expert list; to: More than 10 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak. \r\nSources: Expert list",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:24:18.651215+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDHD2: Changed publications: 23486545, 24482476, 23176823, 31302745; Changed phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:20:40.580567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDHD1 as ready",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:20:40.567678+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddhd1 has been classified as Green List (High Evidence).",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:20:24.471288+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDHD1 were changed from to Spastic paraplegia 28, autosomal recessive, 609340; MONDO:0012256",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:20:04.091694+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDHD1 were set to ",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:19:41.479712+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:19:18.903452+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340, MONDO:0012256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:11:22.473781+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, MIM#\t609340 to Spastic paraplegia 28, autosomal recessive, MIM#\t609340; MONDO:0012256",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2021-03-16T15:11:07.154092+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDHD1: Changed phenotypes: Spastic paraplegia 28, autosomal recessive, MIM# 609340, MONDO:0012256",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2021-03-16T10:46:17.009357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPT1C were set to 25751282; 23973755",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2021-03-16T10:45:52.127749+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564185; Phenotypes: Spastic paraplegia 73, autosomal dominant MIM#616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2021-03-16T10:45:02.637710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPT1C were changed from Spastic paraplegia 73, autosomal dominant MIM#616282 to Spastic paraplegia 73, autosomal dominant MIM#616282; MONDO:0014568",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2021-03-16T10:41:26.825111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAPN1 were set to 27153400",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2021-03-16T10:40:44.795830+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPN1 were changed from Spastic paraplegia 76, autosomal recessive, MIM#616907 to Spastic paraplegia 76, autosomal recessive, MIM#616907; MONDO:0014827",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2021-03-16T08:05:58.585425+11:00",
"panel_name": "Malformations of cortical development_Superpanel",
"panel_id": 3136,
"panel_version": "3.4",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Malformations of cortical development to Malformations of cortical development_Superpanel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-15T22:10:16.186113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP5Z1 as ready",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2021-03-15T22:10:16.178552+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap5z1 has been classified as Green List (High Evidence).",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2021-03-15T22:10:08.973936+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP5Z1 were changed from to Spastic paraplegia 48, autosomal recessive, MIM# 613647; MONDO:0013342",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2021-03-15T22:09:48.171580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP5Z1 were set to ",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2021-03-15T22:09:17.661551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP5Z1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2021-03-15T22:08:55.718454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26085577, 33543803, 27606357; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647, MONDO:0013342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2021-03-15T14:22:44.011341+11:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-15T13:50:28.714477+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COPB1 as ready",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:50:28.705988+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb1 has been classified as Red List (Low Evidence).",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:50:20.902439+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COPB1 was added\ngene: COPB1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COPB1 were set to 33632302\nPhenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts\nReview for gene: COPB1 was set to RED\nAdded comment: Two unrelated families, some supportive functional data. Microcephaly is not a consistent feature in the families reported to date. \nSources: Literature",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:50:09.703111+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COPB1 as ready",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:50:09.694814+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:49:19.891576+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPB1 as Amber List (moderate evidence)",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:49:19.880864+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:48:38.251871+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COPB1 was added\ngene: COPB1 was added to Cataract. Sources: Literature\nMode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COPB1 were set to 33632302\nPhenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts\nReview for gene: COPB1 was set to AMBER\nAdded comment: Two unrelated families, some supportive functional data. \nSources: Literature",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:48:04.278451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COPB1 as ready",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:48:04.259155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:47:38.225376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPB1 as Amber List (moderate evidence)",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:47:38.217894+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:46:59.175407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COPB1 was added\ngene: COPB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COPB1 were set to 33632302\nPhenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts\nReview for gene: COPB1 was set to AMBER\nAdded comment: Two unrelated families, some supportive functional data. \nSources: Literature",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:45:38.577320+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COPB1 as ready",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:45:38.558641+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:45:19.711164+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COPB1 as Amber List (moderate evidence)",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:45:19.702781+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: copb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:44:37.633502+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COPB1 was added\ngene: COPB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COPB1 were set to 33632302\nPhenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts\nReview for gene: COPB1 was set to AMBER\nAdded comment: Two unrelated families, some supportive functional data. \nSources: Literature",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:42:03.577307+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRB2 as ready",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:42:03.569210+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crb2 has been classified as Green List (High Evidence).",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:42:00.201729+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease, MIM# 219730",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:41:26.408100+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRB2 were set to ",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-03-15T13:40:56.086068+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRB2",
"entity_type": "gene"
}
]
}