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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1250",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1248",
"results": [
{
"created": "2021-08-06T17:37:23.293315+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association in individuals with Noonan syndrome, CFC and overlapping Noonan-CFC.; to: Well established gene-disease association in individuals with Noonan syndrome, CFC and overlapping Noonan-CFC. Short stature is a key feature.",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:36:43.369366+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HRAS as ready",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:36:43.360259+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hras has been classified as Green List (High Evidence).",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:36:41.189917+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HRAS were changed from Costello syndrome, 218040; Costello; Costello syndrome to Costello syndrome, MIM# 218040",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:36:32.691354+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HRAS were set to 16969868; 16443854; 21396583; 16170316",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:34:57.238100+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGA2 as ready",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:34:57.227895+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmga2 has been classified as Green List (High Evidence).",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:34:54.084131+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGA2 were changed from Silver-Russell syndrome 5, MONDO:0020795; Silver-Russell syndrome 5, OMIM:618908 to Silver-Russell syndrome 5, MIM# 618908; MONDO:0020795",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:34:30.858365+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMGA2 were set to 29655892",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:34:14.804575+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25809938, 29453418, 29655892, 33482836; Phenotypes: Silver-Russell syndrome 5, MIM# 618908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:30:06.055756+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR3 as ready",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:30:06.045040+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Green List (High Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:30:03.520204+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, 146000 to Hypochondroplasia, MIM#146000",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:29:41.012118+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-08-06T17:29:30.323712+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypochondroplasia, MIM# 146000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:16:43.433519+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCL as ready",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:16:43.423113+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancl has been classified as Green List (High Evidence).",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:16:41.139467+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCL were changed from Fanconi anemia; 614083Fanconi anemia, complementation group L; Fanconi anemia, complementation group L, 614083; Fanconi Anemia to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:16:31.361675+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCL were set to 25754594; 12724401; 19405097; 12973351; 16474160",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:16:12.774524+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association. Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Established gene-disease association. Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:15:52.986096+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCI as ready",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:15:52.973161+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fanci has been classified as Green List (High Evidence).",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:15:48.396325+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCI were changed from 609053 Fanconi anemia, complementation group I; Fanconi anemia; Fanconi anemia, complementation group I, 609053; Fanconi Anemia to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:15:11.694993+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:14:50.579054+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCG as ready",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:14:50.570031+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancg has been classified as Green List (High Evidence).",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:14:47.714476+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCG were changed from 614082 Fanconi anemia, complementation group G; hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group G, 614082; Fanconi anemia complementation group G; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:14:33.396747+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCG were set to 16493006; 9806548",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-08-06T15:14:17.040302+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:17:31.014970+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCF as ready",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:17:31.000742+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancf has been classified as Green List (High Evidence).",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:17:22.825418+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCF were changed from Fanconi anemia, complementation group F, 603467; Fanconi anemia; 603467 Fanconi anemia, complementation group F; Fanconi Anemia to Fanconi anaemia, complementation group F 603467; MONDO:0011325",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:17:09.922438+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCF were set to 10615118",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:16:55.031275+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:16:29.057285+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCE as ready",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:16:29.048081+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fance has been classified as Green List (High Evidence).",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:16:26.542921+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCE were changed from Fanconi anemia; Fanconi anemia, complementation group E, 600901; 600901 Fanconi anemia, complementation group E; Fanconi Anemia to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:16:15.382632+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCE were set to 7662964; 10205272; 9147877; 9382107",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:15:45.052805+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:15:14.745156+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCD2 as ready",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:15:14.735032+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancd2 has been classified as Green List (High Evidence).",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:15:12.082094+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCD2 were changed from Fanconi anemia; 227646 Fanconi anemia, complementation group D2; Fanconi anemia, complementation group D2, 227646; Fanconi Anemia to Fanconi anaemia, complementation group D2, MIM# 227646",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:14:55.808097+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Well established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:14:29.774351+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCC as ready",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:14:29.765240+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancc has been classified as Green List (High Evidence).",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:14:27.325946+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCC were changed from hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; Fanconi anemia, complementation group C, 227645; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; 227645 Fanconi anemia, complementation group C; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:14:15.071069+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCC were set to 16493006; 1574115",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:14:01.567275+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:13:44.479853+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, and early-onset bone marrow failure. Poor growth is a key feature.; to: Well established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, and early-onset bone marrow failure. Poor growth is a key feature.",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:13:25.940260+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCA were changed from Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215 to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:13:15.711075+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCB as ready",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:13:15.699331+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancb has been classified as Green List (High Evidence).",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:13:13.557399+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCB were changed from Fanconi anemia, complementation group B, 300514; Falcon anemia; VACTERL Association with Hydrocephalus; Fanconi Anaemia; Fanconi Anemia Type B; 300514 Fanconi anemia, complementation group B; Fanconi anemia; Fanconi Anemia, X-Linked to Fanconi anaemia, complementation group B, MIM# 300514",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:12:57.047583+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCB were set to ",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:12:50.119214+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCB was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:12:32.201061+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, and early-onset bone marrow failure.; to: Well established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, and early-onset bone marrow failure. Poor growth is a key feature.",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:12:04.321698+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCA as ready",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:12:04.311652+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fanca has been classified as Green List (High Evidence).",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:11:57.814943+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCA were changed from hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; 227650 Fanconi anemia complementation group A; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group A, 227650; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:11:43.234494+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCA were set to 16493006; 8896563",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:11:31.879901+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. ; to: Well established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Growth failure is a key feature.",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:10:51.047671+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC4 as ready",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:10:51.037387+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:10:48.598699+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC4 were changed from 615272 Fanconi anemia, complementation group Q; Fanconi anemia, complementation group Q, 615272 to Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; XFE progeroid syndrome, MIM# 610965; MONDO:0012590",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:10:32.728269+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC4 were set to 23623386; 23623389; 24027083",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:10:04.012411+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Excision repair defect resulting in a range of phenotypes. Growth failure is a key feature of FA.; to: Excision repair defect resulting in a range of phenotypes. Growth failure is a key feature of FA and of progeroid syndrome.",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:09:50.739834+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, XFE progeroid syndrome, MIM# 610965, MONDO:0012590",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-08-06T13:09:03.493901+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Excision repair defect resulting in a range of phenotypes.; to: Excision repair defect resulting in a range of phenotypes. Growth failure is a key feature of FA.",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:17:30.095936+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT172 were changed from Bardet-Biedl syndrome; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 to Bardet-Biedl syndrome 20, MIM# 619471; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:16:57.786858+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is also associated with skeletal ciliopathy, with nephronophthisis reported.; to: Three families reported with a BBS phenotype. Gene is also associated with skeletal ciliopathy, with nephronophthisis reported.",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:16:44.237586+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT172: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 619471, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:16:11.422893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT172 were changed from Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly - 615630; Bardet-Biedl syndrome to Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly - 615630; Bardet-Biedl syndrome 20, MIM# 619471",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:15:26.269185+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT172 were changed from Bardet-Biedl syndrome; Retinitis pigmentosa 71, MIM# 616394; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 to Bardet-Biedl syndrome 20, MIM# 619471; Retinitis pigmentosa 71, MIM# 616394; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:14:56.702188+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO.\r\nMore than 10 families reported with skeletal ciliopathy and 3 with RP. Supportive zebrafish models.; to: Three families reported with a BBS phenotype.\r\nMore than 10 families reported with skeletal ciliopathy and 3 with RP. Supportive zebrafish models.",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:14:46.975720+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT172: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 619471, Retinitis pigmentosa 71, MIM# 616394, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:14:30.644969+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT172 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 20, MIM# 619471",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:14:03.753721+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is associated with other ciliopathies as well.; to: Three families reported with a BBS phenotype. Gene is associated with other ciliopathies as well.",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:13:46.100491+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT172: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 619471",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:10:18.949983+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM8 were changed from Intellectual disability; Seizures; FSGS to Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428; Intellectual disability; Seizures; FSGS",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:09:37.615878+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRIM8: Changed phenotypes: Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428, Intellectual disability, Seizures, FSGS",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:09:18.009199+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM8 were changed from Intellectual disability; Seizures to Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428; Intellectual disability; Seizures",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:08:45.424798+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRIM8: Changed phenotypes: Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428, Intellectual disability, Seizures",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:08:30.798892+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM8 were changed from intellectual disability; epileptic encephalopathy; nephrotic syndrome; proteinuria to Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428; Intellectual disability; Seizures; nephrotic syndrome; proteinuria",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:07:54.008486+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428, Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:07:23.096635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM8 were changed from Intellectual disability; Seizures to Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428; Intellectual disability; Seizures",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:07:00.130878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRIM8: Changed phenotypes: Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428, Intellectual disability, Seizures",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:02:06.689374+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-06T11:01:29.456569+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZFP57 was added\ngene: ZFP57 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFP57 were set to 18622393; 23150280; 25848000\nPhenotypes for gene: ZFP57 were set to IUGR; Diabetes mellitus, transient neonatal 1 OMIM:601410; Multi Locus Imprinting Disturbance; diabetes mellitus, transient neonatal, 1MONDO:0011073",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:29.412805+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE3A was added\ngene: UBE3A was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: UBE3A were set to 12545427; 8988172; http://igc.otago.ac.nz/home.html; 18500341]; 8988171; 21974935; 2309780; PMID: 9887341; [7795645; 30794780\nPhenotypes for gene: UBE3A were set to Affected tissue: brain; Phenotype resulting from under expression: Angelman Syndrome",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:29.367656+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCE was added\ngene: SGCE was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: SGCE were set to PMID: 25209853; 23237735; 23365103; http://igc.otago.ac.nz/home.html; 30794780\nPhenotypes for gene: SGCE were set to Affected tissue: brain; Phenotype resulting from under expression: upper body myoclonus, dystonia",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:29.323603+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PADI6 was added\ngene: PADI6 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PADI6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: PADI6 were set to 27545678; 33221824; 32928291\nPhenotypes for gene: PADI6 were set to Preimplantation embryonic lethality 2 OMIM:617234; preimplantation embryonic lethality 2 MONDO:0014978; Multi Locus Imprinting Disturbance; Beckwith-Wiedemann syndrome",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:29.279775+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NLRP7 was added\ngene: NLRP7 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NLRP7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: NLRP7 were set to 19246479; 28916717; 31201414; 16462743; 29574422\nPhenotypes for gene: NLRP7 were set to Affected tissue: all (incompatible with life); hydatidiform mole, recurrent, 1 MONDO:0009273; Phenotype resulting from under expression: Biparental complete hydatidiform mole; Multi Locus Imprinting Disturbance",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:29.235874+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NLRP5 was added\ngene: NLRP5 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NLRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: NLRP5 were set to 26323243; 31201414; 31829238\nPhenotypes for gene: NLRP5 were set to Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder; Affected tissue: all",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:29.190833+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NLRP2 was added\ngene: NLRP2 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: NLRP2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: NLRP2 were set to 26323243; 29574422; 32169557; 28317850; 30221575; 30877238; 33090377; 19300480; 28422141\nPhenotypes for gene: NLRP2 were set to Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475\nMode of pathogenicity for gene: NLRP2 was set to Other",
"entity_name": "NLRP2",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:29.146848+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MKRN3 was added\ngene: MKRN3 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: MKRN3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: MKRN3 were set to PMID: 23738509; http://igc.otago.ac.nz/home.html; 30794780\nPhenotypes for gene: MKRN3 were set to Phenotype resulting from under expression: Precocious Puberty Syndrome; Affected tissue: HPA axis",
"entity_name": "MKRN3",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:29.100335+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: L3MBTL1 was added\ngene: L3MBTL1 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: L3MBTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: L3MBTL1 were set to http://igc.otago.ac.nz/home.html; 23543057; PMID: 15123827; 30794780\nPhenotypes for gene: L3MBTL1 were set to Affected tissue: myeloid lineages; Phenotype resulting from under expression: lymphoid malignancy",
"entity_name": "L3MBTL1",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:29.055672+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ1OT1 was added\ngene: KCNQ1OT1 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KCNQ1OT1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: KCNQ1OT1 were set to 22205991; 15372379; 10220444; http://igc.otago.ac.nz/home.html; 23511928; 30794780\nPhenotypes for gene: KCNQ1OT1 were set to Beckwith-Wiedemann syndrome OMIM:130650",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:29.011778+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNK9 was added\ngene: KCNK9 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: KCNK9 were set to http://igc.otago.ac.nz/home.html; PMID: 24667089; 18678320; 30794780\nPhenotypes for gene: KCNK9 were set to Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism; Affected tissue: brain; Birk-Barel syndrome",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:28.964854+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF2 was added\ngene: IGF2 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: IGF2 were set to http://igc.otago.ac.nz/home.html; PMID: 26154720; 30794780\nPhenotypes for gene: IGF2 were set to Affected tissue: all; Phenotypes resulting from gene over expression: Beckwith-Wiedemann Syndrome (proven effects of dosage alteration rather than gene muation). Phenotype resulting from under expression: Silver-Russell Syndrome",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2021-08-06T11:01:28.911424+10:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: H19 was added\ngene: H19 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: H19 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: H19 were set to PMID: 20007505; 15743916; 23118352; [21863054; 21571108; 18245780]; 24916376; 25943194\nPhenotypes for gene: H19 were set to Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation); Affected tissue: all; Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome",
"entity_name": "H19",
"entity_type": "gene"
}
]
}