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=1230",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1228",
"results": [
{
"created": "2021-08-20T16:18:50.281011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATM were changed from to Ataxia-telangiectasia, MIM# 208900",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:18:31.128553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATM were set to ",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:18:04.051621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 30137827; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:17:28.901744+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATM as ready",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:17:28.890923+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atm has been classified as Green List (High Evidence).",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:17:25.011436+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATM as Green List (high evidence)",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:17:24.992231+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atm has been classified as Green List (High Evidence).",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:17:15.556475+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATM was added\ngene: ATM was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATM were set to 30137827\nPhenotypes for gene: ATM were set to Ataxia-telangiectasia, MIM# 208900\nReview for gene: ATM was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nAtaxia-telangiectasia (AT) is a chromosome breakage disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy.\r\n\r\nShort stature is a feature. \nSources: Expert Review",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:46:04.756221+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAIP as ready",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:46:04.747547+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traip has been classified as Green List (High Evidence).",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:46:00.809406+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAIP as Green List (high evidence)",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:46:00.792621+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traip has been classified as Green List (High Evidence).",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:45:52.404003+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAIP was added\ngene: TRAIP was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAIP were set to 26595769\nPhenotypes for gene: TRAIP were set to Seckel syndrome 9, MIM# 616777\nReview for gene: TRAIP was set to GREEN\nAdded comment: Three families reported, though two distantly related (founder); functional data. \nSources: Expert Review",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:42:56.604816+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU4ATAC as ready",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:42:56.593901+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4atac has been classified as Green List (High Evidence).",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:42:53.817931+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from MOPD I to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:42:45.320375+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU4ATAC were set to 21474760",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:42:34.129258+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU4ATAC as Green List (high evidence)",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:42:34.119451+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu4atac has been classified as Green List (High Evidence).",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:42:24.599716+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 23794361, 26522830, 30455926, 29265708, 12605445; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710), Roifman syndrome (MIM# 616651), Lowry-Wood syndrome, MIM# 226960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:40:42.169219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960 to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:40:20.091777+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651) to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:39:55.527322+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU4ATAC were set to 23794361; 26522830; 30455926",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:39:32.516629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU4ATAC: Added comment: Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients.\r\n\r\nFour unrelated families reported.\r\n\r\nNote features between the three RNU4ATAC-related conditions overlap and they may not represent distinct disorders.; Changed rating: GREEN; Changed publications: 29265708, 12605445; Changed phenotypes: Lowry-Wood syndrome, MIM# 226960; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:31:09.877480+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBBP8 as ready",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:31:09.865606+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbbp8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:30:37.648990+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBBP8 were changed from seckel syndrome but with proportionate head/height impairment, cafe au lair macules to Seckel syndrome 2, MIM# 606744",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:30:25.339137+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBBP8 were set to 24389050, 21998596",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:30:13.580407+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBBP8 as Amber List (moderate evidence)",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:30:13.571177+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbbp8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2021-08-20T13:30:04.593210+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBBP8: Rating: AMBER; Mode of pathogenicity: None; Publications: 21998596, 24389050; Phenotypes: Seckel syndrome 2, MIM# 606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:34:53.464671+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLE as ready",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:34:53.455261+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pole has been classified as Green List (High Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:34:48.959799+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLE as Green List (high evidence)",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:34:48.947792+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pole has been classified as Green List (High Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:34:42.134382+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: POLE.",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:34:34.909174+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLE was added\ngene: POLE was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLE were set to 30503519; 23230001; 25948378\nPhenotypes for gene: POLE were set to FILS syndrome, MIM# 615139; IMAGE-I syndrome, MIM# 618336\nReview for gene: POLE was set to GREEN\nAdded comment: Both the FILS and IMAGE-I phenotypes have short stature as a feature, although it is more severe in IMAGE-I. Note recurrent intronic variant, c.1686+32C-G (intron 15) in IMAGE-I, found in combination with multiple other variants. \nSources: Expert Review",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:31:17.635867+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCNT as ready",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:31:17.625182+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Green List (High Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:31:15.720569+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720; MOPDII to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:31:05.743378+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCNT were set to 18157127; 18174396",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:30:56.136298+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCNT as Green List (high evidence)",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:30:56.120435+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Green List (High Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:30:47.582968+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18174396, 12210304, 30922925, 33460028, 32557621, 32267100; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:27:38.948194+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARP7 as ready",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:27:38.936637+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: larp7 has been classified as Green List (High Evidence).",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:27:35.122388+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LARP7 as Green List (high evidence)",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:27:35.109146+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: larp7 has been classified as Green List (High Evidence).",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:27:26.886066+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARP7 was added\ngene: LARP7 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LARP7 were set to 22865833; 21937992; 30006060; 33569879\nPhenotypes for gene: LARP7 were set to Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031\nReview for gene: LARP7 was set to GREEN\nAdded comment: Alazami syndrome is an autosomal recessive disorder characterized by severe growth restriction present at birth, severely impaired intellectual development, and distinctive facial features. Five unrelated families reported. \nSources: Expert Review",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:23:59.933495+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM111A as ready",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:23:59.921629+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam111a has been classified as Green List (High Evidence).",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:23:55.570470+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM111A as Green List (high evidence)",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:23:55.560456+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam111a has been classified as Green List (High Evidence).",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:23:47.334706+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM111A was added\ngene: FAM111A was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAM111A were set to 32996714; 23684011\nPhenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM@\t127000\nReview for gene: FAM111A was set to GREEN\nAdded comment: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia. \r\n\r\nNote monoallelic variants in this gene are also associated with gracile bone dysplasia, but this is generally perinatal lethal. \nSources: Expert Review",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:19:01.804839+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNA2 as ready",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:19:01.790763+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dna2 has been classified as Green List (High Evidence).",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:18:59.306670+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNA2 were changed from Seckel syndrome 8, OMIM:615807 to Seckel syndrome 8, MIM:615807",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:18:47.380326+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNA2 as Green List (high evidence)",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:18:47.368627+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dna2 has been classified as Green List (High Evidence).",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-08-20T12:18:37.875203+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 31045292; Phenotypes: Seckel syndrome 8, MIM#615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:37:42.516635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPS1 as ready",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:37:42.505843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trps1 has been classified as Green List (High Evidence).",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:37:25.297430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPS1 were changed from to Trichorhinophalangeal syndrome, type I, OMIM # 190350; Trichorhinophalangeal syndrome, type III, OMIM # 190351",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:37:05.777182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPS1 were set to ",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:36:47.541551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:36:24.090398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11112658, 10615131; Phenotypes: Trichorhinophalangeal syndrome, type I, OMIM # 190350, Trichorhinophalangeal syndrome, type III, OMIM # 190351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:35:20.417963+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPS1 as ready",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:35:20.407198+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trps1 has been classified as Green List (High Evidence).",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:35:17.779969+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPS1 were set to PubMed: 11112658, 10615131",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:33:47.968426+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUF60 as ready",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:33:47.956345+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: puf60 has been classified as Green List (High Evidence).",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:33:43.304175+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUF60 were set to PubMed: 19464398, 24140112, 28327570, 27804958",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:32:56.941978+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGD1 as ready",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:32:56.930332+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgd1 has been classified as Green List (High Evidence).",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:32:52.860871+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGD1 were changed from to Aarskog-Scott syndrome, MIM # 305400; Mental retardation, X-linked syndromic 16, MIM# 305400",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:32:21.172237+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGD1 were set to ",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:29:51.326744+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:29:16.320119+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7954831, 20082460; Phenotypes: Aarskog-Scott syndrome, MIM # 305400, Mental retardation, X-linked syndromic 16, MIM# 305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:28:14.140110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGD1 as ready",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:28:14.129182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgd1 has been classified as Green List (High Evidence).",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:28:05.888488+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGD1 were changed from to Aarskog-Scott syndrome, MIM # 305400; Mental retardation, X-linked syndromic 16, MIM# 305400",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:27:42.326401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGD1 were set to ",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:27:24.607361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:27:03.975049+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7954831, 20082460; Phenotypes: Aarskog-Scott syndrome, MIM # 305400, Mental retardation, X-linked syndromic 16, MIM# 305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:23:55.390073+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGD1 as ready",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:23:55.379836+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgd1 has been classified as Green List (High Evidence).",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:23:52.854590+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGD1 were changed from Aarskog to Aarskog-Scott syndrome, MIM # 305400",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:23:42.512835+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGD1 were set to ",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:22:27.954385+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD21 were changed from Cornelia de Lange syndrome 4, MIM # 614701 to Cornelia de Lange syndrome 4, MIM # 614701",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:22:25.831165+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD21 as ready",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:22:25.820747+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad21 has been classified as Green List (High Evidence).",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:22:03.926326+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD21 were changed from to Cornelia de Lange syndrome 4, MIM # 614701",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:21:30.996221+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD21 were set to ",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:21:03.246874+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAD21 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:20:18.980043+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 22633399, 32193685, 27882533, 30716475, 30125677, 24378232; Phenotypes: Cornelia de Lange syndrome 4, MIM # 614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:15:40.966313+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD21 as ready",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:15:40.954738+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad21 has been classified as Green List (High Evidence).",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:15:35.573431+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD21 were changed from to Cornelia de Lange syndrome 4, MIM # 614701",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:15:12.818396+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD21 were set to ",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-08-20T10:14:48.813122+10:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAD21 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAD21",
"entity_type": "gene"
}
]
}