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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1765",
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"results": [
{
"created": "2020-06-20T16:26:52.170130+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav3 has been classified as Red List (Low Evidence).",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:26:47.833393+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAV3 were changed from to Cardiomyopathy, familial hypertrophic, MIM#\t192600",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:26:04.114528+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAV3 were set to ",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:25:27.545691+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:25:00.572749+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAV3 as Red List (low evidence)",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:25:00.563161+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav3 has been classified as Red List (Low Evidence).",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:24:04.322968+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CALR3 as ready",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:24:04.313793+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calr3 has been classified as Red List (Low Evidence).",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:24:00.754085+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: CALR3.",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:23:47.386868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CALR3 as ready",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:23:47.374987+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calr3 has been classified as Red List (Low Evidence).",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:23:37.152281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CALR3 were changed from to Hypertrophic cardiomyopathy",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:22:46.480344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CALR3 were set to ",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:22:20.801882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CALR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:22:01.065109+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CALR3 as Red List (low evidence)",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:22:01.050596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calr3 has been classified as Red List (Low Evidence).",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:21:41.711164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: CALR3.",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:21:27.195649+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CALR3: Rating: RED; Mode of pathogenicity: None; Publications: 29988065; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:19:43.003964+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CALR3 were changed from to Hypertrophic cardiomyopathy",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:18:57.043728+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CALR3 were set to ",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:18:32.468352+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CALR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:17:40.329568+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CALR3 as Red List (low evidence)",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:17:40.317231+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calr3 has been classified as Red List (Low Evidence).",
"entity_name": "CALR3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:15:28.909800+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD1 as ready",
"entity_name": "ANKRD1",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:15:28.900237+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd1 has been classified as Red List (Low Evidence).",
"entity_name": "ANKRD1",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:15:21.861642+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD1 were changed from to hypertrophic cardiomyopathy",
"entity_name": "ANKRD1",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:14:52.693619+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKRD1 were set to ",
"entity_name": "ANKRD1",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:14:24.639555+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKRD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD1",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:13:35.695246+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKRD1 as Red List (low evidence)",
"entity_name": "ANKRD1",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:13:35.684564+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd1 has been classified as Red List (Low Evidence).",
"entity_name": "ANKRD1",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:12:21.173926+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALPK3 as ready",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:12:21.164516+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alpk3 has been classified as Green List (High Evidence).",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:12:17.995929+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALPK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:11:46.015698+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALPK3 were changed from to Cardiomyopathy, familial hypertrophic 27, MIM# 618052",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:11:21.233914+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALPK3 were set to ",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:09:31.205088+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26846950, 27106955, 32480058; Phenotypes: Cardiomyopathy, familial hypertrophic 27, MIM# 618052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:08:17.920531+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALPK3 as ready",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:08:17.910305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alpk3 has been classified as Green List (High Evidence).",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:08:09.736356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALPK3 were changed from to Cardiomyopathy, familial hypertrophic 27, MIM# 618052",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:07:50.605589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALPK3 were set to ",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:07:30.224009+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALPK3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:07:09.975818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26846950, 27106955, 32480058; Phenotypes: Cardiomyopathy, familial hypertrophic 27, MIM# 618052; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:04:37.150355+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALPK3 as ready",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:04:37.138007+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alpk3 has been classified as Green List (High Evidence).",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:04:23.163262+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALPK3 were changed from to Cardiomyopathy, familial hypertrophic 27, MIM#\t618052",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:03:59.315347+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALPK3 were set to ",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:03:30.918214+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALPK3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:02:03.585140+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTN2 as ready",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:02:03.576462+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:01:17.913452+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTN2 were changed from to Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM#\t612158",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:00:44.299271+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTN2 were set to ",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-06-20T16:00:21.348883+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-06-20T15:56:58.283958+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTN2 as Amber List (moderate evidence)",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-06-20T15:56:58.275556+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-06-20T15:55:00.470835+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTC1 as ready",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-06-20T15:55:00.461627+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actc1 has been classified as Green List (High Evidence).",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-06-20T15:54:58.048811+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-06-20T15:53:59.650900+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTC1 were changed from to Cardiomyopathy, hypertrophic, 11\t612098",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-06-20T15:53:39.174979+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-06-20T15:53:19.113224+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-06-20T00:38:43.743852+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: HCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYL2",
"entity_type": "gene"
},
{
"created": "2020-06-20T00:36:33.696753+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: HCM, LVNC, RCM, DCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2020-06-20T00:34:51.070816+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: hypertrophic cardiomyopathy, LVNC, DCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-06-20T00:31:28.639504+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 30411535; Phenotypes: hypertrophic cardiomyopathy, distal myopathy, restrictive cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-06-19T23:43:01.164900+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: DES: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: arrhythmogenic right ventricular cardiomyopathy, myofibrillar myopathy 1, dilated cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2020-06-19T23:09:17.494799+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "changed review comment from: Assessed as MODERATE by ClinGen HCM working group PMID: 30681346\r\nAssociated with HCM in 4 families reported by a German group with some functional evidence and including 2 large multi-generational families with 6 and 8 affected relatives segregating the variants. \r\n3 of the 4 variants reported in these families have a low frequency (up to 4 alleles) in Gnomad.; to: Assessed as MODERATE by ClinGen HCM working group PMID: 30681346\r\nAssociated with HCM in 4 families reported by a German group with some functional evidence and including 2 large multi-generational families with 6 and 8 affected relatives segregating the variants. \r\n3 of the 4 variants reported in these families have a low frequency (up to 4 alleles) in Gnomad.\r\nAssess variants in this gene with caution due to the limited number of families currently reported with pathogenic/likely[pathogenic variants in this gene.",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2020-06-19T23:08:08.510263+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18505755, 30681346; Phenotypes: hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2020-06-19T22:32:31.807163+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14672715,27483260,12138167; Phenotypes: hypertrophic cardiomyopathy, long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-06-19T21:49:24.680650+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:28942965; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33, hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2020-06-19T21:37:02.758563+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD1",
"entity_type": "gene"
},
{
"created": "2020-06-19T21:31:24.146336+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26846950, 27106955, 32480058; Phenotypes: hypertrophic cardiomyopathy, dilated cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2020-06-19T20:59:05.729232+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: hypertrophic cardiomyopathy, left ventricular non compaction, dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-06-19T20:46:16.716019+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hypertrophic cardiomyopathy, left ventricular non compaction, dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-06-19T16:00:56.652992+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPG7 as ready",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2020-06-19T16:00:56.643894+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spg7 has been classified as Green List (High Evidence).",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2020-06-19T16:00:41.679729+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPG7 as Green List (high evidence)",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2020-06-19T16:00:41.668603+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spg7 has been classified as Green List (High Evidence).",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2020-06-19T16:00:02.515196+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPG7 was added\ngene: SPG7 was added to Motor Neuron Disease. Sources: Literature\nMode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPG7 were set to 16765570; 19364936\nPhenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive MIM#607259\nReview for gene: SPG7 was set to GREEN\nAdded comment: The HSP caused by this gene can be classified as a non-ALS MND, affecting the upper motor neurons. There are multiple reports of the condition mimicking MND. \nSources: Literature",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2020-06-19T15:57:20.616059+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPAST as ready",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-06-19T15:57:20.606878+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spast has been classified as Green List (High Evidence).",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-06-19T15:56:50.014783+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPAST as Green List (high evidence)",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-06-19T15:56:49.998896+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spast has been classified as Green List (High Evidence).",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-06-19T15:56:04.853095+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPAST was added\ngene: SPAST was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPAST were set to 16765570; 19364936\nReview for gene: SPAST was set to GREEN\nAdded comment: The HSP caused by this gene can be classified as a non-ALS MND, affecting the upper motor neurons. There are multiple reports of the condition mimicking MND. \nSources: Expert list",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-06-19T15:44:39.306097+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: REEP1 as ready",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2020-06-19T15:44:39.293493+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: reep1 has been classified as Green List (High Evidence).",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2020-06-19T15:44:33.976987+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: REEP1 as Green List (high evidence)",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2020-06-19T15:44:33.965724+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: reep1 has been classified as Green List (High Evidence).",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2020-06-19T15:44:05.611734+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: REEP1 was added\ngene: REEP1 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: REEP1 were set to 23108492; 22703882\nPhenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant MIM#610250\nReview for gene: REEP1 was set to GREEN\nAdded comment: The HSP caused by this gene can be classified as a non-ALS MND, affecting the upper and lower motor neurons. \nSources: Expert list",
"entity_name": "REEP1",
"entity_type": "gene"
},
{
"created": "2020-06-19T14:52:00.839293+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GBE1 as Green List (high evidence)",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2020-06-19T14:52:00.826545+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gbe1 has been classified as Green List (High Evidence).",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2020-06-19T14:19:10.553720+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GBE1 was added\ngene: GBE1 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBE1 were set to 20301758; 26194201\nPhenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form\tMIM#263570\nReview for gene: GBE1 was set to GREEN\nAdded comment: APBD can have upper and lower motor neuron involvement, and at least 5 cases in a cohort of 30 were misdiagnosed with ALS. \nSources: Expert list",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2020-06-19T14:12:35.438012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSF4 as ready",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2020-06-19T14:12:35.428947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsf4 has been classified as Green List (High Evidence).",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2020-06-19T14:12:28.131482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSF4 were changed from to Cataract 5, multiple types, 116800",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2020-06-19T14:12:06.764039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSF4 were set to ",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2020-06-19T14:11:44.949889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSF4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2020-06-19T14:11:26.128968+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31815953, 29243736, 26490182; Phenotypes: Cataract 5, multiple types, 116800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2020-06-19T14:10:10.834704+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSF4 as ready",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2020-06-19T14:10:10.822525+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsf4 has been classified as Green List (High Evidence).",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2020-06-19T14:10:08.668370+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSF4 were changed from to Cataract 5, multiple types, 116800",
"entity_name": "HSF4",
"entity_type": "gene"
}
]
}