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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1306",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1304",
"results": [
{
"created": "2021-06-06T16:57:12.782656+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SATB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:56:43.716795+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:55:35.587038+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SATB2 as ready",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:55:35.576877+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb2 has been classified as Green List (High Evidence).",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:55:08.378134+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SATB2 were changed from Glass syndrome; GLASS SYNDROME; Cleft palate; GLASS; Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatas; Chromosome 2q32-q33 deletion syndrome; Orofacial Clefting with skeletal features to Glass syndrome, MIM# 612313; MONDO:0100147",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:54:58.536290+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SATB2 were set to 16179223",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:54:48.528908+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SATB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:54:39.112260+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:54:04.423981+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SATB2 as ready",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:54:04.413225+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb2 has been classified as Green List (High Evidence).",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:54:00.947064+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SATB2 were changed from to Glass syndrome, MIM# 612313; MONDO:0100147",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:53:29.467566+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SATB2 were set to ",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:52:57.413704+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SATB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:52:29.741573+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:51:47.068744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SATB2 as ready",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:51:47.059425+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb2 has been classified as Green List (High Evidence).",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:51:34.993248+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SATB2 were changed from to Glass syndrome, MIM# 612313; MONDO:0100147",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:50:47.499821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SATB2 were set to ",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:50:29.615148+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SATB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:50:10.757283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:49:46.724788+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SATB2 as ready",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:49:46.715950+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb2 has been classified as Green List (High Evidence).",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:49:28.269486+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SATB2 were changed from Glass syndrome, MIM#\t612313 to Glass syndrome, MIM# 612313; MONDO:0100147",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:48:59.335609+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SATB2 were changed from to Glass syndrome, MIM# 612313; MONDO:0100147",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:48:31.568112+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SATB2 were set to ",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:48:08.259452+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SATB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:47:37.670202+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor.\r\n\r\nOver 30 unrelated individuals reported.; to: Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor.\r\n\r\nOver 100 unrelated individuals reported.",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:47:15.676750+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:22:21.515851+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATRX as ready",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:22:21.504144+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:22:18.537195+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:21:51.612435+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATRX were set to ",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:21:31.781824+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:21:04.084967+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATRX: Changed publications: 20301622",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:16:16.293355+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040, Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580; 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": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:10:28.934949+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MEF2C.\nTag 5'UTR tag was added to gene: MEF2C.",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:09:31.568042+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEF2C as ready",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:09:31.557854+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mef2c has been classified as Green List (High Evidence).",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:09:27.150397+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEF2C were changed from to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; MONDO:0013266",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:08:56.097932+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEF2C were set to ",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:08:25.260755+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEF2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:07:54.788975+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19876902, 19471318, 19592390, 19592390, 20513142, 34055696, 34022131; Phenotypes: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443, MONDO:0013266 Edit; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:07:09.721886+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEF2C as ready",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:07:09.705154+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mef2c has been classified as Green List (High Evidence).",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:07:03.439153+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MEF2C.\nTag 5'UTR tag was added to gene: MEF2C.",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:06:51.391819+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEF2C were changed from to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; MONDO:0013266",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:06:21.876696+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEF2C were set to ",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:05:50.140813+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEF2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:05:10.227380+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19876902, 19471318, 19592390, 19592390, 20513142, 34055696, 34022131; Phenotypes: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443, MONDO:0013266 Edit; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:04:19.752470+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MEF2C.\nTag 5'UTR tag was added to gene: MEF2C.",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:04:05.165562+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEF2C were changed from Chromosome 5q14.3 deletion syndrome, 613443; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 to Chromosome 5q14.3 deletion syndrome, 613443; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443; MONDO:0013266",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:03:36.792229+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEF2C were set to ",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:03:15.711614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19876902, 19471318, 19592390, 19592390, 20513142, 34055696, 34022131; Phenotypes: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443, MONDO:0013266 Edit; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:01:57.909124+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEF2C as ready",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:01:57.898853+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mef2c has been classified as Green List (High Evidence).",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:01:55.239777+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEF2C were changed from Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; MONDO:0013266",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:01:24.413479+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEF2C were changed from to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:01:01.479705+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEF2C were set to ",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:00:38.039343+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MEF2C.\nTag 5'UTR tag was added to gene: MEF2C.",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:00:29.710577+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEF2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T15:00:00.281146+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19876902, 19471318, 19592390, 19592390, 20513142, 34055696, 34022131; Phenotypes: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:54:47.615331+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECP2 as ready",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:54:47.605614+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecp2 has been classified as Green List (High Evidence).",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:54:44.334865+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; MONDO:0010726",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:54:20.306320+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MECP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:53:50.313339+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome, MIM# 312750, MONDO:0010726; 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": "MECP2",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:08:00.607174+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBD5 as ready",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:08:00.597261+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbd5 has been classified as Green List (High Evidence).",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:07:53.651135+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MBD5.",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:07:46.819284+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MBD5 were changed from to Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:07:24.835580+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MBD5 were set to ",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:07:03.141765+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MBD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:06:39.306851+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18812405, 21981781, 23708187, 22726846, 33912662; Phenotypes: Mental retardation, autosomal dominant 1, MIM# 156200, MONDO:0007974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:06:22.089129+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MBD5: Changed phenotypes: Mental retardation, autosomal dominant 1, MIM# 156200, MONDO:0007974",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:06:13.887297+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBD5 as ready",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:06:13.876684+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbd5 has been classified as Green List (High Evidence).",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:06:10.173418+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MBD5.",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:06:00.177372+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MBD5 were changed from to Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:05:25.947009+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MBD5 were set to ",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:04:53.736033+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MBD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:04:23.773018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MBD5.",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:04:12.684227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBD5 as ready",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:04:12.674437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbd5 has been classified as Green List (High Evidence).",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:04:05.694380+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MBD5 were changed from to Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:03:49.893028+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18812405, 21981781, 23708187, 22726846, 33912662; Phenotypes: 18812405, 21981781, 23708187, 22726846, 33912662; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:03:23.084985+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MBD5 were set to ",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:03:18.579215+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBD5 as ready",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:03:18.567610+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbd5 has been classified as Green List (High Evidence).",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:03:10.851042+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MBD5 were changed from to Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:02:44.146990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MBD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:02:31.933591+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MBD5 were set to ",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:02:09.533832+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MBD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:01:41.521508+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MBD5.",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:01:32.586748+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18812405, 21981781, 23708187, 22726846, 33912662; Phenotypes: Mental retardation, autosomal dominant 1, MIM# 156200, MONDO:0007974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:01:20.721454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18812405, 21981781, 23708187, 22726846, 33912662; Phenotypes: Mental retardation, autosomal dominant 1, MIM# 156200, MONDO:0007974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:00:44.420213+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MBD5.",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:00:10.332387+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBD5 as ready",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T14:00:10.318731+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbd5 has been classified as Green List (High Evidence).",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:59:34.044588+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MBD5 were changed from to Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:59:12.406795+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MBD5 were set to ",
"entity_name": "MBD5",
"entity_type": "gene"
}
]
}