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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1307",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1305",
"results": [
{
"created": "2021-06-06T13:58:43.685558+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.62",
"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": "2021-06-06T13:58:19.188887+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.61",
"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": "2021-06-06T13:57:57.822235+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.61",
"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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:52:52.677780+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQSEC2 as ready",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:52:52.666363+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqsec2 has been classified as Green List (High Evidence).",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:52:49.487108+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:52:26.751123+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IQSEC2 were set to ",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:47:54.507981+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IQSEC2 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": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:47:31.132598+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31415821, 20473311, 30842726, 33368194, 23674175; Phenotypes: Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656, Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347; 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": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:46:37.278741+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQSEC2 as ready",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:46:37.268106+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqsec2 has been classified as Green List (High Evidence).",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:46:32.969658+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:45:54.831013+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IQSEC2 were set to ",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:45:29.441264+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IQSEC2 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": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:45:00.116397+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31415821, 20473311, 30842726, 33368194, 23674175; Phenotypes: Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656, Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347; 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": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:43:48.106388+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": "Marked gene: IQSEC2 as ready",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:43:48.092483+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": "Gene: iqsec2 has been classified as Green List (High Evidence).",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:39:48.140332+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": "Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:39:22.538653+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IQSEC2 were set to ",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:38:55.587634+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IQSEC2 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": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:38:21.281225+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IQSEC2: Added comment: More than 20 unrelated families reported.; Changed publications: 31415821, 20473311, 30842726, 33368194, 23674175; Changed phenotypes: Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656, Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:38:08.492685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM#309530 to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:37:27.523757+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IQSEC2 were set to 31415821; 20473311; 30842726",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:36:57.948845+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33368194, 20473311, 23674175; Phenotypes: Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656, Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347; 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": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:35:23.839034+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQSEC2 as ready",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:35:23.828698+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqsec2 has been classified as Green List (High Evidence).",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:35:20.762288+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:33:29.376766+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IQSEC2 were set to ",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:33:00.607416+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IQSEC2 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": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:32:29.937085+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33368194, 20473311, 23674175; Phenotypes: Mental retardation, X-linked 1/78, MIM# 309530; 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": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:22:34.335864+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHMT1 were changed from Kleefstra syndrome 1 (MIM#610253) to Kleefstra syndrome 1, MIM# 610253; MONDO:0027407",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:22:00.597997+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EHMT1 were set to ",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:21:26.914975+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EHMT1: Changed publications: 16826528, 19264732, 19293338, 22670143, 30448833",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:21:16.718870+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: EHMT1: Well established gene-disease association. Deletions are common. Key features includeID/seizures/microcephaly/dysmorphism/congenital anomalies. More than 100 individuals reported.",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:20:48.035849+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EHMT1: Changed phenotypes: Kleefstra syndrome 1, MIM# 610253, MONDO:0027407",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:20:25.557664+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: EHMT1.",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:20:10.082258+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EHMT1 as ready",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:20:10.071989+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehmt1 has been classified as Green List (High Evidence).",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:20:05.047114+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1, MIM# 610253; MONDO:0027407",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:19:36.462225+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EHMT1 were set to ",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:19:13.236912+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:18:49.918775+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: EHMT1.",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:18:40.379925+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826528, 19264732, 19293338, 22670143, 30448833; Phenotypes: Kleefstra syndrome 1, MIM# 610253, MONDO:0027407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:17:40.325829+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EHMT1 as ready",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:17:40.315461+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehmt1 has been classified as Green List (High Evidence).",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:17:37.992500+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1, MIM# 610253; MONDO:0027407",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:17:15.337781+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EHMT1 were set to ",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:16:51.817899+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:16:21.917640+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826528, 19264732, 19293338, 22670143, 30448833; Phenotypes: Kleefstra syndrome 1, MIM# 610253, MONDO:0027407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:15:08.345418+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EHMT1 as ready",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:15:08.328907+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehmt1 has been classified as Green List (High Evidence).",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:15:05.073347+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: EHMT1.",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:14:51.901358+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1, MIM# 610253; MONDO:0027407",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:14:09.294246+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EHMT1 were set to ",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:13:46.307257+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T13:13:19.956967+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826528, 19264732, 19293338, 22670143, 30448833; Phenotypes: Kleefstra syndrome 1, MIM# 610253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:49:33.609769+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEF1A2 were changed from Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393 to Mental retardation, autosomal dominant 38, MIM# 616393; MONDO:0014617; Developmental and epileptic encephalopathy 33, MIM# 616409; MONDO:0014625",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:49:09.885409+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EEF1A2 were set to 32160274",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:48:22.096399+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EEF1A2: Changed phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, MONDO:0014617, Developmental and epileptic encephalopathy 33, MIM# 616409, MONDO:0014625",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:48:03.698720+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EEF1A2: Changed publications: 24697219, 32196822, 32160274, 32062104, 31893083",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:47:46.438766+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EEF1A2: Changed publications: 24697219, 32196822, 32160274, 32062104, 31893083",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:47:37.929755+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EEF1A2 were set to 32160274",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:47:13.201296+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEF1A2 were changed from Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393 to Mental retardation, autosomal dominant 38, MIM# 616393; MONDO:0014617; Developmental and epileptic encephalopathy 33, MIM# 616409; MONDO:0014625",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:46:45.757823+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EEF1A2: Changed phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, MONDO:0014617, Developmental and epileptic encephalopathy 33, MIM# 616409, MONDO:0014625",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:46:20.835971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEF1A2 were changed from Epileptic encephalopathy, early infantile, 33, MIM#\t616409; Mental retardation, autosomal dominant 38, MIM#\t616393 to Mental retardation, autosomal dominant 38, MIM# 616393; MONDO:0014617; Developmental and epileptic encephalopathy 33, MIM# 616409; MONDO:0014625",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:46:00.118819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EEF1A2 were set to 32160274",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:45:28.411641+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24697219, 32196822, 32160274, 32062104, 31893083; Phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, MONDO:0014617, Developmental and epileptic encephalopathy 33, MIM# 616409, MONDO:0014625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:44:55.683039+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features, microcephaly reported. Diagnosis made in Rett-like patient, PMID 31893083.\r\n\r\nBoth LoF and GoF postulated.; to: Epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features, microcephaly reported. Diagnosis made in Rett-like patient, PMID 31893083.\r\n\r\nBoth LoF and GoF postulated. More than 20 unrelated families.",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:44:10.405960+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EEF1A2 as ready",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:44:10.395942+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef1a2 has been classified as Green List (High Evidence).",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:44:06.587807+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEF1A2 were changed from to Mental retardation, autosomal dominant 38, MIM# 616393; MONDO:0014617; Developmental and epileptic encephalopathy 33, MIM# 616409; MONDO:0014625",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:43:44.152512+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EEF1A2 were set to ",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:43:15.832674+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:42:44.441380+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EEF1A2: Changed phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, MONDO:0014617, Developmental and epileptic encephalopathy 33, MIM# 616409, MONDO:0014625",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T12:41:28.540098+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24697219, 32196822, 32160274, 32062104, 31893083; Phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, Developmental and epileptic encephalopathy 33, MIM# 616409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:31:12.425603+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-06-06T10:30:58.267363+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POGZ as ready",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:30:58.257287+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pogz has been classified as Amber List (Moderate Evidence).",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:13:22.058750+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIEZO2 as ready",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:13:22.048034+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo2 has been classified as Green List (High Evidence).",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:13:19.846023+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO2 were changed from to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 5, MIM# 108145",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:12:54.005205+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIEZO2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:12:29.858046+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marden-Walker syndrome, MIM# 248700, Arthrogryposis, distal, type 5, MIM# 108145; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:07:48.722264+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH3 as ready",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:07:48.711980+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh3 has been classified as Green List (High Evidence).",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:07:46.307915+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH3 were changed from to Arthrogryposis, distal, type 2A (Freeman-Sheldon), MIM# 193700",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:07:18.538403+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:06:54.568685+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), MIM# 193700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:05:50.865663+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12 as ready",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:05:50.856109+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:05:48.349418+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from to Ohdo syndrome, X-linked, MIM# 300895",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:05:26.077639+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:05:02.445919+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ohdo syndrome, X-linked, MIM# 300895; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:03:35.469144+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MASP1 as ready",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:03:35.456863+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: masp1 has been classified as Green List (High Evidence).",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:03:32.808278+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MASP1 were changed from 3MC1; 3MC SYNDROME 1 to 3MC syndrome 1, MIM# 257920; MONDO:0009770",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:03:23.259290+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MASP1 were set to ",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:03:11.032284+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26789649, 21258343, 21035106; Phenotypes: 3MC syndrome 1, MIM# 257920, MONDO:0009770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:02:35.388159+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MASP1 as ready",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2021-06-06T10:02:35.373711+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: masp1 has been classified as Green List (High Evidence).",
"entity_name": "MASP1",
"entity_type": "gene"
}
]
}