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=1232",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1230",
"results": [
{
"created": "2021-08-19T20:16:30.171498+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAGT1 were set to ",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2021-08-19T20:15:56.348899+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAGT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:10:36.655566+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKG as ready",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:10:36.645891+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:10:33.428714+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKG were changed from to Ectodermal dysplasia and immunodeficiency 1 MIM# 300291; Immunodeficiency 33 MIM# 300636",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:10:06.193243+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IKBKG were set to ",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:09:33.159831+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:08:25.122273+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NIPBL as ready",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:08:25.108966+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nipbl has been classified as Green List (High Evidence).",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:08:20.820825+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NIPBL were changed from to Cornelia de Lange syndrome 1, MIM # 122470",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:07:54.710783+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NIPBL were set to ",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:07:28.222553+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NIPBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:06:58.810541+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": "reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: None; Publications: 16604071, 20358602, 16236812, 17661813; Phenotypes: Cornelia de Lange syndrome 1, MIM # 122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:05:50.126030+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NIPBL as ready",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:05:50.115275+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nipbl has been classified as Green List (High Evidence).",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:05:37.458406+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NIPBL were changed from Cornelia De Lange to Cornelia de Lange syndrome 1, MIM # 122470",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:05:26.504723+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NIPBL were set to ",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:04:34.941418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome 2, MIM# 300590 to Cornelia de Lange syndrome 2, MIM# 300590; Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:04:14.948794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMC1A were set to 17273969; 22106055; 19701948; 26752331; 28166369",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:03:33.080089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023665, 31409060, 31334757, 28166369; Phenotypes: Cornelia de Lange syndrome 2, MIM# 300590, Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044; 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": "SMC1A",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:00:21.507684+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC1A as ready",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:00:21.496789+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc1a has been classified as Green List (High Evidence).",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2021-08-19T19:00:19.014432+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMC1A were changed from Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771; Cornelia de Lange syndrome 2, MONDO:0010370; Cornelia de Lange syndrome 2, OMIM:300590; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044 to Cornelia de Lange syndrome 2, OMIM # 300590, MONDO:0010370",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2021-08-19T18:53:14.018399+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMC1A were set to ",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2021-08-19T16:02:29.248978+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.355",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: MAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24550228, 31036665, 32451662; Phenotypes: Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853, XMEN, Low CD4, inverted CD4/CD8 ratio, reduced MAIT cells, poor proliferation to CD3, decreased memory B cells, progressive hypogammaglobulinaemia, reduced NK cell, EBV infection, lymphoma, viral infections, respiratory and GI infections, Glycosylation defects; 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": "MAGT1",
"entity_type": "gene"
},
{
"created": "2021-08-19T16:00:16.289443+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.355",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: 11242109, 11047757, 29855039, 15833888, 28993958, 15577852; Phenotypes: Ectodermal dysplasia and immunodeficiency 1 MIM# 300291, Immunodeficiency 33 MIM# 300636; 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": "IKBKG",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:47:11.065287+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.216",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NIPBL as Green List (high evidence)",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:47:11.055548+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.216",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nipbl has been classified as Green List (High Evidence).",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:46:57.668098+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.215",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16604071, 20358602, 16236812, 17661813; Phenotypes: Cornelia de Lange syndrome 1, OMIM # 122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:41:07.441738+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.215",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SMC1A as Green List (high evidence)",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:41:07.428463+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.215",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: smc1a has been classified as Green List (High Evidence).",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:40:56.598989+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.214",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16604071, 20358602, 19842212, 24124034; Phenotypes: Cornelia de Lange syndrome 2, OMIM # 300590; 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": "SMC1A",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:38:13.153125+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCLRE1C were set to 15731174; 19953608; 15699179 12055248; 34220820",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:37:04.402545+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCLRE1C as ready",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:37:04.392352+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dclre1c has been classified as Green List (High Evidence).",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:36:59.825012+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCLRE1C were changed from to Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome MIM# 603554",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:36:35.514655+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCLRE1C were set to ",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:36:01.874042+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:34:20.669292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCLRE1B as ready",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:34:20.658179+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dclre1b has been classified as Red List (Low Evidence).",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:34:12.165746+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCLRE1B were changed from to Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:33:49.039555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCLRE1B were set to ",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:33:16.132602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCLRE1B as Red List (low evidence)",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:33:16.123359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dclre1b has been classified as Red List (Low Evidence).",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:32:57.095721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DCLRE1B: Rating: RED; Mode of pathogenicity: None; Publications: 20479256, 21647296; Phenotypes: Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome; Mode of inheritance: Unknown",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:32:18.234560+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCLRE1B as ready",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:32:18.225756+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dclre1b has been classified as Red List (Low Evidence).",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:32:15.484206+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCLRE1B were changed from to Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:31:43.272114+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCLRE1B were set to ",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:31:19.826382+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCLRE1B as Red List (low evidence)",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:31:19.816850+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dclre1b has been classified as Red List (Low Evidence).",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:27:19.047780+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATM as ready",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:27:18.992371+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.348",
"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": "2021-08-19T14:27:16.059963+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATM were changed from to Ataxia-telangiectasia MIM# 208900; Progressive T cell decrease, poor T-cell proliferation to mitogens; low IgA, IgE and IgG; increased IgM monomers; antibodies variably decreased; Ataxia; telangiectasia especially of sclerae; pulmonary infections; lymphoreticular and other malignancies; increased alpha fetoprotein; increased radiosensitivity, chromosomal instability and chromosomal translocations",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:26:47.216953+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATM were set to ",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:26:21.355047+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:22:38.958311+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOR1AIP1 were changed from Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness; Contractures to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Congenital myasthenic syndrome",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:22:05.860750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937; 32055997",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:21:38.082558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOR1AIP1: Added comment: Gene is associated with multiple muscle phenotypes as already noted. Single family myasthenic syndrome and supportive mouse model data.; Changed rating: GREEN; Changed publications: 33215087; Changed phenotypes: Congenital myasthenic syndrome; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:19:25.187080+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family plus mouse model.; to: Single family plus mouse model. Variants in this gene also cause a range of other muscle disorders.",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:19:07.009923+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOR1AIP1 as ready",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:19:06.998045+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:19:00.254700+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOR1AIP1 were changed from to Congenital myasthenic syndrome",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:18:50.520453+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOR1AIP1 as Amber List (moderate evidence)",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:18:50.509904+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2021-08-19T14:18:16.772914+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TOR1AIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2021-08-19T13:50:31.272119+10:00",
"panel_name": "Progressive Neurological Conditions",
"panel_id": 3377,
"panel_version": "7.82",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Myopathy - paediatric onset; Congenital Disorders of Glycosylation; Hereditary Spastic Paraplegia - paediatric; Brain Calcification; Hereditary Neuropathy_CMT - isolated; Miscellaneous Metabolic Disorders; Dystonia - isolated/combined; Hereditary Spastic Paraplegia - adult onset; Glycogen Storage Diseases; Neurotransmitter Defects; Fatty Acid Oxidation Defects; Brain Channelopathies; Lysosomal Storage Disorder; Genetic Epilepsy; Mitochondrial disease; Ataxia - paediatric; Leukodystrophy - paediatric; Dystonia - complex; Ataxia - adult onset; Early-onset Dementia; Motor Neurone Disease; Hereditary Neuropathy - complex; Myopathy - adult onset; Early-onset Parkinson disease; Leukodystrophy - adult onset; Rhabdomyolysis; Limb Girdle Muscular Dystrophy; Pain syndromes; Peroxisomal Disorders; Iron metabolism disorders; Cerebral vascular malformations; Neuroferritinopathies",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-19T13:44:07.321216+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.3",
"user_name": "Gina Ravenscroft",
"item_type": "entity",
"text": "reviewed gene: TOR1AIP1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33215087; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: None",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2021-08-19T13:43:07.348226+10:00",
"panel_name": "Progressive Neurological Conditions",
"panel_id": 3377,
"panel_version": "7.81",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Myopathy - paediatric onset; Hereditary Spastic Paraplegia - paediatric; Brain Calcification; Hereditary Neuropathy_CMT - isolated; Miscellaneous Metabolic Disorders; Dystonia - isolated/combined; Hereditary Spastic Paraplegia - adult onset; Brain Channelopathies; Genetic Epilepsy; Mitochondrial disease; Ataxia - paediatric; Leukodystrophy - paediatric; Dystonia - complex; Ataxia - adult onset; Early-onset Dementia; Motor Neurone Disease; Hereditary Neuropathy - complex; Early-onset Parkinson disease; Myopathy - adult onset; Leukodystrophy - adult onset; Limb Girdle Muscular Dystrophy; Pain syndromes; Cerebral vascular malformations",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-19T13:41:48.370424+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.3",
"user_name": "Gina Ravenscroft",
"item_type": "entity",
"text": "gene: TOR1AIP1 was added\ngene: TOR1AIP1 was added to Congenital Myasthenia. Sources: Expert Review\nMode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOR1AIP1 were set to PMID: 34164833\nPenetrance for gene: TOR1AIP1 were set to Complete",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2021-08-19T13:18:35.581371+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.345",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15731174, 19953608, 15699179 12055248, 34220820; Phenotypes: Severe combined immunodeficiency, Athabascan type MIM# 602450, Omenn syndrome MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T13:16:09.696641+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.345",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T13:15:02.512748+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.345",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: DCLRE1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 15731174, 19953608; Phenotypes: Omenn syndrome MIM# 603554, Absent B cells, normal-elevated T-cells, normal-elevated NK cells, severe combined immunodeficiency (SCID), erythrodermia, hepatosplenomegaly, lymphadenopathy, alopecia, radiosensitivity, elevated IgE, elevated eosinophilia, dermatitis, failure to thrive, recurrent respiratory infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2021-08-19T10:34:23.186441+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.345",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: DCLRE1B: Rating: RED; Mode of pathogenicity: None; Publications: 20479256, 21647296; Phenotypes: Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome MIM# 616353; Mode of inheritance: Unknown",
"entity_name": "DCLRE1B",
"entity_type": "gene"
},
{
"created": "2021-08-19T10:16:28.938793+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.345",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301790, 27884168, 8689683; Phenotypes: Ataxia-telangiectasia MIM# 208900, Progressive T cell decrease, poor T-cell proliferation to mitogens, low IgA, IgE and IgG, increased IgM monomers, antibodies variably decreased, Ataxia, telangiectasia especially of sclerae, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-08-19T09:30:25.134465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAPPA2 as ready",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2021-08-19T09:30:25.123501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pappa2 has been classified as Green List (High Evidence).",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2021-08-19T09:30:16.457546+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAPPA2 as Green List (high evidence)",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2021-08-19T09:30:16.447141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pappa2 has been classified as Green List (High Evidence).",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2021-08-19T09:29:50.514400+10:00",
"panel_name": "Progressive Neurological Conditions",
"panel_id": 3377,
"panel_version": "7.80",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-19T09:23:33.446344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAPPA2 was added\ngene: PAPPA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PAPPA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAPPA2 were set to 26902202; 34272725; 32739295\nPhenotypes for gene: PAPPA2 were set to Short stature, Dauber-Argente type, MIM#619489\nReview for gene: PAPPA2 was set to GREEN\nAdded comment: Short stature of the Dauber-Argente type (SSDA) is characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, and mildly decreased bone density. Patients have elevated circulating levels of total IGF1 due to impaired proteolysis of IGFBP3 and IGFBP5, resulting in reduced free IGF1.\r\n\r\n7 individuals from 3 unrelated families reported, mouse model. \nSources: Literature",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2021-08-19T09:22:08.792602+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAPPA2 as ready",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2021-08-19T09:22:08.783777+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pappa2 has been classified as Green List (High Evidence).",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2021-08-19T09:22:06.219958+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAPPA2 were changed from Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density to Short stature, Dauber-Argente type, MIM#619489",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2021-08-19T09:21:50.290839+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAPPA2 were set to 26902202",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2021-08-19T09:21:40.879201+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAPPA2 as Green List (high evidence)",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2021-08-19T09:21:40.867367+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pappa2 has been classified as Green List (High Evidence).",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2021-08-19T09:21:31.410180+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAPPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26902202, 34272725, 32739295; Phenotypes: Short stature, Dauber-Argente type, MIM#619489; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:10:01.221036+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRIPT as ready",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:10:01.211588+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cript has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:09:39.620737+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRIPT were changed from frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly to Short stature with microcephaly and distinctive facies (MIM#615789)",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:09:29.396641+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRIPT were set to PMC3912419",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:08:43.312877+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRIPT as Amber List (moderate evidence)",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:08:43.301941+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cript has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:08:34.493758+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: None; Publications: 24389050, 27250922; Phenotypes: Short stature with microcephaly and distinctive facies (MIM#615789); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:06:04.665255+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP152 as ready",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:06:04.655147+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep152 has been classified as Green List (High Evidence).",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:05:49.581168+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP152 as Green List (high evidence)",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:05:49.572122+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep152 has been classified as Green List (High Evidence).",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2021-08-18T20:05:30.862108+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP152 was added\ngene: CEP152 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP152 were set to 21131973\nPhenotypes for gene: CEP152 were set to Seckel syndrome 5, MIM#\t613823\nReview for gene: CEP152 was set to GREEN\nAdded comment: At least three unrelated families reported. Note bi-allelic variants in this gene also cause isolated microcephaly. \nSources: Expert Review",
"entity_name": "CEP152",
"entity_type": "gene"
}
]
}