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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1726",
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"results": [
{
"created": "2020-07-18T17:48:25.725229+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24553428, 23181892; Phenotypes: Perrault syndrome 1, MIM# 233400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:46:12.711852+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HS6ST1 as ready",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:46:12.699462+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs6st1 has been classified as Red List (Low Evidence).",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:46:10.313823+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HS6ST1 were changed from to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:45:46.129929+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HS6ST1 were set to ",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:45:26.172809+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HS6ST1 was changed from Unknown to Other",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:45:05.662396+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HS6ST1 as Red List (low evidence)",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:45:05.654886+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs6st1 has been classified as Red List (Low Evidence).",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:44:41.182882+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: 21700882; Phenotypes: {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880; Mode of inheritance: Other",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:43:39.097900+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HS6ST1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:43:21.570098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HS6ST1: Changed mode of inheritance: Other",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:43:04.764223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HS6ST1 as ready",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:43:04.754550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs6st1 has been classified as Red List (Low Evidence).",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:42:58.202502+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HS6ST1 were changed from to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:42:42.958117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HS6ST1 were set to ",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:42:28.414997+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HS6ST1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:42:14.096903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HS6ST1 as Red List (low evidence)",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:42:14.087467+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs6st1 has been classified as Red List (Low Evidence).",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:41:58.003024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: 21700882; Phenotypes: {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:40:37.117608+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HS6ST1 as ready",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:40:37.110207+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs6st1 has been classified as Red List (Low Evidence).",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:40:31.429825+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HS6ST1 were changed from to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:40:08.530436+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HS6ST1 were set to ",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:39:52.799037+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HS6ST1 was changed from Unknown to Other",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:39:24.896659+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HS6ST1 as Red List (low evidence)",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:39:24.890040+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs6st1 has been classified as Red List (Low Evidence).",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:39:01.710084+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: 21700882; Phenotypes: {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880; Mode of inheritance: Other",
"entity_name": "HS6ST1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:35:37.840365+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA13 were changed from to Hand-foot-uterus syndrome, MIM# 140000",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:35:16.241243+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXA13 were set to ",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:34:01.882492+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXA13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:33:33.042168+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXA13: Rating: GREEN; Mode of pathogenicity: None; Publications: 10839976, 9020844; Phenotypes: Hand-foot-uterus syndrome, MIM# 140000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:30:08.568754+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HESX1 as ready",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:30:08.561154+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hesx1 has been classified as Green List (High Evidence).",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:30:06.137031+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HESX1 were changed from to Pituitary hormone deficiency, combined, 5, MIM# 182230",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:29:43.873954+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:29:21.412232+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 5, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:27:10.194584+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNRH1 as ready",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:27:10.184163+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnrh1 has been classified as Red List (Low Evidence).",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:27:07.553508+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNRH1 were changed from to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:26:43.686466+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNRH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:26:23.567878+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNRH1 as Red List (low evidence)",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:26:23.561217+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnrh1 has been classified as Red List (Low Evidence).",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:26:01.162890+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNRH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:25:27.056203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNRH1 as ready",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:25:27.048055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnrh1 has been classified as Green List (High Evidence).",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:25:21.523605+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNRH1 were changed from to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:25:05.841824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNRH1 were set to ",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:24:10.487413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNRH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:22:56.606374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNRH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19535795, 19567835, 32134721, 31200363, 26595427; Phenotypes: Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:20:11.297576+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNRH1 as ready",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:20:11.289776+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnrh1 has been classified as Green List (High Evidence).",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:20:02.841671+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNRH1 were changed from to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:19:40.483782+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNRH1 were set to ",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:19:19.229862+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNRH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T17:18:56.373975+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNRH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19535795, 19567835, 32134721, 31200363, 26595427; Phenotypes: Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2020-07-18T11:40:42.344212+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF462 were changed from Weiss-Kruszka syndrome; OMIM# 618619 to Weiss-Kruszka syndrome, OMIM# 618619",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-07-18T11:40:22.798299+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF462 were set to PubMed: 31361404; 28513610",
"entity_name": "ZNF462",
"entity_type": "gene"
},
{
"created": "2020-07-17T21:10:46.363726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF3B were changed from hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly; Retinitis pigmentosa 89, MIM#618955",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-07-17T21:10:26.215587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF3B: Changed phenotypes: hepatic fibrosis, retinitis pigmentosa, postaxial polydactyly, Retinitis pigmentosa 89, MIM#618955",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-07-17T21:10:09.591731+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF3B were changed from hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly; Retinitis pigmentosa 89, MIM#618955",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-07-17T21:09:41.035514+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF3B: Changed phenotypes: hepatic fibrosis, retinitis pigmentosa, postaxial polydactyly, Retinitis pigmentosa 89, MIM#618955",
"entity_name": "KIF3B",
"entity_type": "gene"
},
{
"created": "2020-07-17T18:00:18.548426+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUX2 as ready",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2020-07-17T18:00:18.538388+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cux2 has been classified as Green List (High Evidence).",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2020-07-17T18:00:15.974798+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUX2 were changed from to Epileptic encephalopathy, early infantile, 67, MIM#618141",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2020-07-17T17:59:55.108539+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CUX2 were set to ",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2020-07-17T17:59:33.944092+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CUX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2020-07-17T17:59:09.937682+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 2963073, 29795476; Phenotypes: Epileptic encephalopathy, early infantile, 67, MIM#618141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2020-07-17T17:58:01.308800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUX2 as ready",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2020-07-17T17:58:01.303511+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: At least 10 individuals reported with same recurrent de novo missense variant.",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2020-07-17T17:58:01.274009+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cux2 has been classified as Green List (High Evidence).",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2020-07-17T17:57:41.389289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUX2 were changed from to Epileptic encephalopathy, early infantile, 67, MIM#618141",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2020-07-17T17:57:19.517437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CUX2 were set to ",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2020-07-17T17:56:06.464989+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CUX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2020-07-17T13:57:49.079617+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPM1 as ready",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-07-17T13:57:49.071614+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpm1 has been classified as Green List (High Evidence).",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-07-17T13:57:45.890665+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPM1 were changed from to Congenital disorder of glycosylation, type Ie, MIM# 608799",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-07-17T13:57:21.856481+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPM1 were set to ",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-07-17T13:57:00.173523+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-07-17T13:56:37.014950+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23856421, 16641202, 10642602, 10642597; Phenotypes: Congenital disorder of glycosylation, type Ie, 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-07-17T13:54:56.351075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPM1 as ready",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-07-17T13:54:56.341214+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpm1 has been classified as Green List (High Evidence).",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-07-17T13:54:50.218727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPM1 were changed from to Congenital disorder of glycosylation, type Ie, 608799",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-07-17T13:54:34.687356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPM1 were set to ",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-07-17T13:54:20.060950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-07-17T13:35:06.526129+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3377",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 2963073, 29795476; Phenotypes: Epileptic encephalopathy, early infantile, 67, 618141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CUX2",
"entity_type": "gene"
},
{
"created": "2020-07-17T12:40:34.905890+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.10",
"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": "2020-07-17T12:35:26.669680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3377",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23856421; Phenotypes: Congenital disorder of glycosylation, type Ie, 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2020-07-17T09:55:58.870539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GIPC1 as ready",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2020-07-17T09:55:58.863512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gipc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2020-07-17T09:55:51.631610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GIPC1 as Amber List (moderate evidence)",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2020-07-17T09:55:51.621331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gipc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2020-07-17T09:55:36.272263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GIPC1 was added\ngene: GIPC1 was added to Mendeliome. Sources: Literature\n5'UTR, STR tags were added to gene: GIPC1.\nMode of inheritance for gene: GIPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GIPC1 were set to 32413282\nPhenotypes for gene: GIPC1 were set to Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940\nReview for gene: GIPC1 was set to AMBER\nAdded comment: 19 families reported with heterozygous trinucleotide repeat expansion in the 5-prime untranslated region and onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. Note this is unlikely to be tractable currently by most NGS assays. \nSources: Literature",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2020-07-16T18:12:29.612375+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC3 as ready",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-07-16T18:12:29.602369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc3 has been classified as Green List (High Evidence).",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-07-16T18:12:23.260878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMC3 were changed from to Cornelia de Lange syndrome 3, MIM#610759",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-07-16T18:12:07.535216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMC3 were set to ",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-07-16T18:11:57.104077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2020-07-16T18:10:46.948000+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DEAF1 as ready",
"entity_name": "DEAF1",
"entity_type": "gene"
},
{
"created": "2020-07-16T18:10:46.940179+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: deaf1 has been classified as Green List (High Evidence).",
"entity_name": "DEAF1",
"entity_type": "gene"
},
{
"created": "2020-07-16T18:10:43.366166+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DEAF1 were changed from to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171; Vulto-van Silfout-de Vries syndrome 615828",
"entity_name": "DEAF1",
"entity_type": "gene"
}
]
}