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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1874",
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"results": [
{
"created": "2020-04-10T12:31:31.430723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD81 as Amber List (moderate evidence)",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:31:31.417643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd81 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:31:12.279373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408; Phenotypes: Immunodeficiency, common variable, 6, MIM# 613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:30:04.570933+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD81 as ready",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:30:04.560324+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd81 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:29:55.423187+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD81 were changed from to Immunodeficiency, common variable, 6, MIM# 613496",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:29:24.823400+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD81 were set to ",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:28:55.318256+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:27:08.055930+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD81 as Amber List (moderate evidence)",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:27:08.040600+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd81 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:26:37.375624+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408; Phenotypes: Immunodeficiency, common variable, 6, MIM# 613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:20:17.816326+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD247 as Green List (high evidence)",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:20:17.803580+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd247 has been classified as Green List (High Evidence).",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:11:18.991470+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD247 as Green List (high evidence)",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:11:18.981596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd247 has been classified as Green List (High Evidence).",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:10:57.106481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Also known as CD3Z. Single individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.; to: Also known as CD3Z. Note one individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:10:44.046175+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD247: Added comment: Two reports in the literature, note additional two reports in ClinVar; functional data.; Changed rating: GREEN; Changed publications: 16672702, 17170122",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:09:40.875916+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Also known as CD3Z. Single individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.; to: Also known as CD3Z. Note one individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:09:12.936809+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD247: Added comment: Two reports in the literature, note additional two reports in ClinVar; functional data.; Changed rating: GREEN; Changed publications: 16672702, 17170122",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:05:05.044399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C8G as ready",
"entity_name": "C8G",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:05:05.028739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8g has been classified as Red List (Low Evidence).",
"entity_name": "C8G",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:04:53.777788+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C8G as Red List (low evidence)",
"entity_name": "C8G",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:04:53.764044+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8g has been classified as Red List (Low Evidence).",
"entity_name": "C8G",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:04:01.907753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C8G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "C8G",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:03:13.212134+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C8G as ready",
"entity_name": "C8G",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:03:13.203063+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8g has been classified as Red List (Low Evidence).",
"entity_name": "C8G",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:03:09.367690+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C8G as Red List (low evidence)",
"entity_name": "C8G",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:03:09.358555+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8g has been classified as Red List (Low Evidence).",
"entity_name": "C8G",
"entity_type": "gene"
},
{
"created": "2020-04-10T12:02:39.184466+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C8G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "C8G",
"entity_type": "gene"
},
{
"created": "2020-04-10T11:54:30.698235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLOC1S6 as ready",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-10T11:54:30.684825+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-10T11:53:33.327013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLOC1S6 were changed from to Hermansky-Pudlak syndrome 9, MIM# 614171",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-10T11:53:13.003606+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLOC1S6 were set to ",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-10T11:52:52.677575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BLOC1S6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-10T11:52:34.518244+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLOC1S6 as Amber List (moderate evidence)",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-10T11:52:34.509192+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-10T11:52:16.062466+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: None; Publications: 22461475, 21665000, 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-10T11:50:14.892018+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLOC1S6 as Amber List (moderate evidence)",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-10T11:50:14.878921+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-10T11:49:44.097760+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BLOC1S6: Changed rating: AMBER",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-10T11:49:37.164033+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified.; to: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-10T11:31:34.919792+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BLOC1S6: Changed publications: 22461475, 21665000, 32245340",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-10T10:49:00.847805+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGPL1 as ready",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-04-10T10:49:00.833907+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Green List (High Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-04-10T10:48:57.638721+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGPL1 were changed from to Nephrotic syndrome, type 14, MIM# 617575",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-04-10T10:48:33.429850+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SGPL1 were set to ",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-04-10T10:47:58.234154+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SGPL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-04-10T10:47:26.304099+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28165343, 28165339; Phenotypes: Nephrotic syndrome, type 14, MIM# 617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:30:13.526542+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBA5 as ready",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:30:13.517144+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba5 has been classified as Green List (High Evidence).",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:29:41.257699+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA5 were set to 28965491; 27545674; 27545681",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:29:14.467157+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA5 were changed from to Epileptic encephalopathy, early infantile, 44 (MIM#617132)",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:28:45.192770+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AUH as ready",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:28:45.179875+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auh has been classified as Amber List (Moderate Evidence).",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:25:28.910496+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, MIM# 250950 to 3-methylglutaconic aciduria, type I, MIM# 250950",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:25:25.598467+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA5 were set to 28965491; 27545674; 27545681",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:24:08.338151+10:00",
"panel_name": "Visceral Myopathy",
"panel_id": 3087,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-09T17:22:17.228123+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECR as ready",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:22:17.219004+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecr has been classified as Green List (High Evidence).",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:22:14.085209+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM#617282",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:21:41.354093+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MECR as Green List (high evidence)",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:21:41.340931+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecr has been classified as Green List (High Evidence).",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:21:00.732840+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUH were changed from to 3-methylglutaconic aciduria, type I, MIM# 250950",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:20:49.130971+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA5 were set to ",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:19:16.813618+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:18:46.154660+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28965491, 27545674, 27545681; Phenotypes: Epileptic encephalopathy, early infantile, 44 (MIM#617132); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:15:06.213821+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBA5 as ready",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:15:06.200064+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba5 has been classified as Red List (Low Evidence).",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:15:03.386995+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA5 were changed from to Epileptic encephalopathy, early infantile, 44 (MIM#617132)",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:14:38.611669+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA5 were set to ",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:14:02.031635+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:13:27.611046+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBA5 as Red List (low evidence)",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:13:27.597817+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba5 has been classified as Red List (Low Evidence).",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:12:32.799618+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBAS as ready",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:12:32.795583+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Also note individuals in DECIPHER with eye phenotypes and bi-allelic variants but unpublished and also unclear if optic atrophy. Borderline Green/Amber for optic atrophy.",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:12:32.761375+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:11:31.425973+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NBAS as Green List (high evidence)",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:11:31.412942+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:10:31.233840+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP3B2 as ready",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:10:31.220104+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3b2 has been classified as Green List (High Evidence).",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:10:26.788609+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP3B2 were changed from to Early-onset epileptic encephalopathy with optic atrophy, MIM#617276",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:09:57.643265+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP3B2 were set to ",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:09:24.776832+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:08:51.069609+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889060; Phenotypes: Early-onset epileptic encephalopathy with optic atrophy, MIM#617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:07:44.532205+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP3B2 as ready",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:07:44.523442+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3b2 has been classified as Green List (High Evidence).",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:07:38.936980+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP3B2 were changed from to Early-onset epileptic encephalopathy with optic atrophy, MIM#617276",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:07:15.063762+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP3B2 were set to ",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:06:28.544986+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:05:57.938042+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889060; Phenotypes: Early-onset epileptic encephalopathy with optic atrophy, MIM#617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:04:24.414477+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATAD3A as ready",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:04:24.410394+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Optic atrophy reported in individuals with the recurrent de novo missense p.Arg528Trp only at this stage.",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:04:24.380233+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atad3a has been classified as Green List (High Evidence).",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:03:17.402702+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AUH were set to 20855850; 30143805; 31765440; 1594352",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:02:47.503315+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:02:25.141541+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AUH were set to ",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:02:05.149142+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP3B2 were set to 27889060",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:01:58.291507+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP3B2 as ready",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:01:58.281843+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3b2 has been classified as Green List (High Evidence).",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T17:01:44.424002+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome, MIM#617183",
"entity_name": "ATAD3A",
"entity_type": "gene"
}
]
}