HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1233",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1231",
"results": [
{
"created": "2021-08-18T20:02:39.306576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATR as ready",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:02:39.294950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atr has been classified as Green List (High Evidence).",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:02:30.287687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from to Seckel syndrome 1, MIM# 210600",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:02:10.994179+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATR were set to ",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:01:53.624750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:01:32.940074+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATR as ready",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:01:32.927004+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atr has been classified as Green List (High Evidence).",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:01:28.865348+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12640452, 19620979, 30199583, 23111928; Phenotypes: Seckel syndrome 1, MIM# 210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:00:46.158536+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATR as Green List (high evidence)",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:00:46.147795+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atr has been classified as Green List (High Evidence).",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:00:35.939021+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATR was added\ngene: ATR was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATR were set to 12640452; 19620979; 30199583; 23111928\nPhenotypes for gene: ATR were set to Seckel syndrome 1, MIM# 210600\nReview for gene: ATR was set to GREEN\nAdded comment: At least three unrelated families reported. \nSources: Expert Review",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:58:18.033225+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM6A as ready",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:58:18.022181+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Green List (High Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:58:04.535923+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM6A were changed from Kabuki to Kabuki syndrome 2, MIM# 300867",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:57:45.290939+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM6A were set to ",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:57:36.565739+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM6A as Green List (high evidence)",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:57:36.556617+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Green List (High Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:57:27.593545+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22197486, 23076834, 24633898, 25972376; Phenotypes: Kabuki syndrome 2, MIM# 300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:48:24.334622+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPK1 as ready",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:48:24.324882+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Green List (High Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:48:07.484801+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPK1 as Green List (high evidence)",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:48:07.474800+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Green List (High Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:47:57.502573+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPK1 was added\ngene: MAPK1 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK1 were set to 32721402\nPhenotypes for gene: MAPK1 were set to Noonan syndrome 13, MIM#619087\nMode of pathogenicity for gene: MAPK1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: MAPK1 was set to GREEN\nAdded comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.\r\n\r\nThe phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once. \r\n\r\nMAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway. \r\n\r\nMAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic). \r\n\r\nThe distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome). \nSources: Expert Review",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:44:08.551107+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRAS2 as ready",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:44:08.541378+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rras2 has been classified as Green List (High Evidence).",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:42:50.947974+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRAS2 as Green List (high evidence)",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:42:50.936713+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rras2 has been classified as Green List (High Evidence).",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2021-08-18T19:42:42.098900+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRAS2 was added\ngene: RRAS2 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RRAS2 were set to 31130282\nPhenotypes for gene: RRAS2 were set to Noonan syndrome 12, MIM #618624\nMode of pathogenicity for gene: RRAS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: RRAS2 was set to GREEN\nAdded comment: Six unrelated families reported, GoF variants. \nSources: Expert Review",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:33:11.362557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHOX as ready",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:33:11.353045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shox has been classified as Green List (High Evidence).",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:33:03.279571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHOX were changed from to Langer mesomelic dysplasia, MIM# 249700; Leri-Weill dyschondrosteosis, MIM# 127300",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:32:44.933973+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHOX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:32:26.718740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SHOX.",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:32:15.746482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Langer mesomelic dysplasia, MIM# 249700, Leri-Weill dyschondrosteosis, MIM# 127300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:30:51.897499+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHOX as ready",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:30:51.888217+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shox has been classified as Green List (High Evidence).",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:30:42.840801+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Deletions common.; to: Deletions common. Pseudoautosomal region of X chromosome.",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:30:28.266102+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHOX: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:30:18.612621+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHOX were changed from to Langer mesomelic dysplasia, MIM# 249700; Leri-Weill dyschondrosteosis, MIM# 127300",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:30:09.280449+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHOX as Green List (high evidence)",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:30:09.270275+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shox has been classified as Green List (High Evidence).",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:30:00.199941+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SHOX.",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:29:52.904463+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Langer mesomelic dysplasia, MIM# 249700, Leri-Weill dyschondrosteosis, MIM# 127300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:26:45.695124+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CENPJ as ready",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:26:45.684885+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cenpj has been classified as Red List (Low Evidence).",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:26:43.131361+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CENPJ were changed from seckel syndrome to Seckel syndrome 4, MIM# 613676",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:26:28.825095+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CENPJ were set to 20522431",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:26:17.097213+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family reported with Seckel phenotype and supportive mouse model. However, bi-allelic variants in this gene are typically associated with microcephaly.; to: Single family reported with Seckel phenotype and supportive mouse model. However, bi-allelic variants in this gene are typically associated with microcephaly without short stature.",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:26:08.121565+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CENPJ: Rating: RED; Mode of pathogenicity: None; Publications: 20522431, 23166506; Phenotypes: Seckel syndrome 4, MIM# 613676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:20:11.889666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC4 as ready",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:20:11.880378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc4 has been classified as Green List (High Evidence).",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:20:03.258454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC4 were changed from to Meier-Gorlin syndrome 2, MIM# 613800",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:19:27.745270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ORC4 were set to ",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:14:09.444340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ORC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:13:52.302121+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 23023959, 22333897; Phenotypes: Meier-Gorlin syndrome 2, MIM# 613800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:13:13.450626+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC4 as ready",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:13:13.441116+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc4 has been classified as Green List (High Evidence).",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:13:08.762842+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC4 were changed from Meier-Gorlin syndrome 2, 613800; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin to Meier-Gorlin syndrome 2, MIM# 613800",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:12:55.461702+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ORC4 were set to 21358632",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:12:46.850892+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ORC4 as Green List (high evidence)",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:12:46.841298+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc4 has been classified as Green List (High Evidence).",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:12:38.277172+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 23023959, 22333897; Phenotypes: Meier-Gorlin syndrome 2, MIM# 613800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:08:19.185169+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC1 as ready",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:08:19.174251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc1 has been classified as Green List (High Evidence).",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:08:12.546548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC1 were changed from to Meier-Gorlin syndrome 1, MIM# 224690; MONDO:0009143",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:07:55.105340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ORC1 were set to ",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:07:36.635180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ORC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:07:18.825120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358633, 21358632, 21358631, 23023959; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690, MONDO:0009143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:06:37.348426+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC1 as ready",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:06:37.338999+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc1 has been classified as Green List (High Evidence).",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:06:34.392066+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC1 were changed from Meier-Gorlin syndrome 1, 224690; microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia; Meier-Gorlin to Meier-Gorlin syndrome 1, MIM# 224690; MONDO:0009143",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:06:23.023655+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ORC1 were set to 21358632",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:06:11.792348+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ORC1 as Green List (high evidence)",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:06:11.782931+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc1 has been classified as Green List (High Evidence).",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-08-18T18:06:03.057612+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358633, 21358632, 21358631, 23023959; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690, MONDO:0009143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2021-08-18T17:59:44.735231+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC6 as ready",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-08-18T17:59:44.725107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc6 has been classified as Green List (High Evidence).",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-08-18T17:59:36.703502+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC6 were changed from to Meier-Gorlin syndrome 3, MIM# 613803",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-08-18T17:59:16.863506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ORC6 were set to ",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-08-18T17:58:57.487238+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ORC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-08-18T17:58:40.095543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 22333897, 25691413, 26139588; Phenotypes: Meier-Gorlin syndrome 3, MIM# 613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-08-18T17:57:41.206301+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORC6 as ready",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-08-18T17:57:41.196838+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc6 has been classified as Green List (High Evidence).",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-08-18T17:57:22.864135+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ORC6 were changed from Meier-Gorlin; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin syndrome 3, 613803 to Meier-Gorlin syndrome 3, MIM# 613803",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-08-18T17:57:10.579994+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ORC6 were set to 21358632",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-08-18T17:57:01.403448+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ORC6 as Green List (high evidence)",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-08-18T17:57:01.392025+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orc6 has been classified as Green List (High Evidence).",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-08-18T17:56:33.705917+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 22333897, 25691413, 26139588; Phenotypes: Meier-Gorlin syndrome 3, MIM# 613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:26:29.709333+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF1R as ready",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:26:29.700235+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1r has been classified as Green List (High Evidence).",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:26:26.468856+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGF1R were changed from 15q-Del; Insulin likegrowthfactorI,resistanceto,270450; Insulin-Like Growth Factor I Resistance to Insulin-like growth factor I, resistance to, MIM # 270450",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:26:09.850045+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF1R were set to ",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:24:54.858143+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF1 as ready",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:24:54.848323+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1 has been classified as Green List (High Evidence).",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:24:46.436181+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGF1 were changed from to Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:24:18.666054+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGF1 were set to ",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:23:50.573919+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGF1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:23:15.181534+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8857020, 15769976, 14684690, 31539878, 28768959, 34125705, 22832530; Phenotypes: Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:22:03.216826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGF1 as ready",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2021-08-18T14:22:03.207417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igf1 has been classified as Green List (High Evidence).",
"entity_name": "IGF1",
"entity_type": "gene"
}
]
}