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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1503",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1501",
"results": [
{
"created": "2020-11-14T14:44:15.417316+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFPM2 as ready",
"entity_name": "ZFPM2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:44:15.394351+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfpm2 has been classified as Green List (High Evidence).",
"entity_name": "ZFPM2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:44:11.892040+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFPM2 as Green List (high evidence)",
"entity_name": "ZFPM2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:44:11.884053+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfpm2 has been classified as Green List (High Evidence).",
"entity_name": "ZFPM2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:43:44.115050+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZFPM2 was added\ngene: ZFPM2 was added to Congenital diaphragmatic hernia. Sources: Expert list\nMode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZFPM2 were set to 16103912; 17568391; 24702427\nPhenotypes for gene: ZFPM2 were set to Diaphragmatic hernia 3, MIM#\t610187\nReview for gene: ZFPM2 was set to GREEN\nAdded comment: More than 5 unrelated families reported with variants in this gene and CDH. Note variants in this gene are also linked to CHD and sex reversal. \nSources: Expert list",
"entity_name": "ZFPM2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:40:26.421123+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STRA6 as ready",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:40:26.407117+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stra6 has been classified as Green List (High Evidence).",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:40:22.331372+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STRA6 were changed from to Microphthalmia, syndromic 9, MIM# 601186",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:40:01.066999+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STRA6 were set to ",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:39:30.260966+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:39:01.685739+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26373900, 22686418]; Phenotypes: Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:31:22.753787+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADSL as ready",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:31:22.742329+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adsl has been classified as Green List (High Evidence).",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:31:19.920593+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency, MIM# 103050",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:30:50.258183+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:30:21.226569+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenylosuccinase deficiency, MIM# 103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:27:35.702398+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTL6B as ready",
"entity_name": "ACTL6B",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:27:35.689835+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actl6b has been classified as Green List (High Evidence).",
"entity_name": "ACTL6B",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:27:32.600913+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTL6B as Green List (high evidence)",
"entity_name": "ACTL6B",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:27:32.593498+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actl6b has been classified as Green List (High Evidence).",
"entity_name": "ACTL6B",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:27:05.283178+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTL6B was added\ngene: ACTL6B was added to Angelman Rett like syndromes. Sources: Expert Review\nMode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACTL6B were set to 31031012\nPhenotypes for gene: ACTL6B were set to Intellectual developmental disorder with severe speech and ambulation defects, MIM#\t618470\nReview for gene: ACTL6B was set to GREEN\nAdded comment: Ten individuals reported with de novo heterozygous variants and intellectual disability, ambulation deficits, severe language impairment, hypotonia, Rett-like stereotypies, and minor facial dysmorphisms (wide mouth, diastema, bulbous nose). Nine of these ten unrelated individuals had the identical de novo c.1027G>A (p.Gly343Arg) variant.\r\n\r\nNote bi-allelic variants cause a neurodevelopmental disorder characterised by epilepsy and spasticity. \nSources: Expert Review",
"entity_name": "ACTL6B",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:22:04.379068+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NTNG2 was added\ngene: NTNG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NTNG2 were set to 31668703; 31692205\nPhenotypes for gene: NTNG2 were set to Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718\nReview for gene: NTNG2 was set to GREEN\nAdded comment: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) is an autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia usually with inability to walk, and significant behavioral abnormalities consistent with autism spectrum disorder and reminiscent of Rett syndrome, such as poor communication, stereotypic or repetitive behaviours, hand-wringing, bruxism, and sleep disturbances. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities.\r\n\r\nMore than 8 families reported. \nSources: Expert Review",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:19:27.648379+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NTNG2 as ready",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:19:27.637165+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntng2 has been classified as Green List (High Evidence).",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:19:23.213388+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NTNG2 as Green List (high evidence)",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:19:23.203435+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntng2 has been classified as Green List (High Evidence).",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:18:55.566681+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NTNG2 was added\ngene: NTNG2 was added to Angelman Rett like syndromes. Sources: Literature\nMode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NTNG2 were set to 31668703; 31692205\nPhenotypes for gene: NTNG2 were set to Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM#\t618718\nReview for gene: NTNG2 was set to GREEN\nAdded comment: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) is an autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia usually with inability to walk, and significant behavioral abnormalities consistent with autism spectrum disorder and reminiscent of Rett syndrome, such as poor communication, stereotypic or repetitive behaviours, hand-wringing, bruxism, and sleep disturbances. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities.\r\n\r\nMore than 8 families reported. \nSources: Literature",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:12:23.719996+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN2B as ready",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:12:23.711983+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2b has been classified as Green List (High Evidence).",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:12:17.640021+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRIN2B as Green List (high evidence)",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:12:17.629666+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2b has been classified as Green List (High Evidence).",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:11:47.824044+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIN2B was added\ngene: GRIN2B was added to Angelman Rett like syndromes. Sources: Expert list\nMode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIN2B were set to 31409060; 28734458\nPhenotypes for gene: GRIN2B were set to Mental retardation, autosomal dominant 6, MIM#\t613970; Developmental and epileptic encephalopathy 27, MIM#\t616139\nReview for gene: GRIN2B was set to GREEN\nAdded comment: More than 3 individuals reported as part of Rett-like cohorts. \nSources: Expert list",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:04:08.413402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: GABBR2: At least 3 unrelated individuals reported with DEE 59, MIM# 617904. Neurodevelopmental disorder with poor language and loss of hand skills, MIM# 617903 is an allelic disorder, which is less severe. The two may represent a spectrum.",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:03:25.716857+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABBR2 as ready",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:03:25.706002+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabbr2 has been classified as Green List (High Evidence).",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:03:21.819524+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABBR2 were changed from to Developmental and epileptic encephalopathy 59, MIM# 617904",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:03:01.004855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GABBR2: Changed publications: 29100083, 28061363, 28135719, 28856709, 29369404, 29377213, 25262651, 28856709; Changed phenotypes: Neurodevelopmental disorder with poor language and loss of hand skills, 617903, Developmental and epileptic encephalopathy 59, MIM# 617904",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:02:48.045856+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABBR2 were set to ",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:02:19.770150+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:01:48.006772+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GABBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 25262651, 28856709; Phenotypes: Developmental and epileptic encephalopathy 59, MIM# 617904; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-11-14T13:56:17.501245+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABBR2 as ready",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-11-14T13:56:17.489509+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabbr2 has been classified as Green List (High Evidence).",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-11-14T13:56:13.693077+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABBR2 as Green List (high evidence)",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-11-14T13:56:13.685273+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabbr2 has been classified as Green List (High Evidence).",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-11-14T13:55:45.876986+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABBR2 was added\ngene: GABBR2 was added to Angelman Rett like syndromes. Sources: Expert list\nMode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABBR2 were set to 28856709; 26740508; 29369404\nPhenotypes for gene: GABBR2 were set to Neurodevelopmental disorder with poor language and loss of hand skills, MIM#\t617903\nReview for gene: GABBR2 was set to GREEN\nAdded comment: NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome.\r\n\r\nAt least 5 unrelated individuals reported. \nSources: Expert list",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2020-11-14T13:36:43.421896+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC1A as ready",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-11-14T13:36:43.411057+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.36",
"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": "2020-11-14T13:36:38.964436+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMC1A as Green List (high evidence)",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-11-14T13:36:38.952541+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.36",
"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": "2020-11-14T13:36:10.735050+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC1A was added\ngene: SMC1A was added to Angelman Rett like syndromes. Sources: Expert list\nMode of inheritance for gene: SMC1A was set to Other\nPublications for gene: SMC1A were set to 29023665; 31409060\nPhenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, MIM#\t300590; Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM#\t301044\nReview for gene: SMC1A was set to GREEN\nAdded comment: At least 4 unrelated individuals identified in Rett-like cohorts. \nSources: Expert list",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:45:52.323572+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH2 as ready",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:45:52.315736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah2 has been classified as Green List (High Evidence).",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:45:44.062590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH2 as Green List (high evidence)",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:45:44.052144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah2 has been classified as Green List (High Evidence).",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:45:24.797572+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH2 was added\ngene: DNAH2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH2 were set to 30811583\nPhenotypes for gene: DNAH2 were set to Spermatogenic failure 45, MIM#\t619094\nReview for gene: DNAH2 was set to GREEN\nAdded comment: Three unrelated families reported. \nSources: Expert list",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:41:57.401419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN9 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 116, MIM#619093",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:41:37.686097+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLDN9: Changed phenotypes: Deafness, autosomal recessive 116, MIM#619093",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:41:02.386749+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN9 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 116, MIM#619093",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:40:20.181033+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLDN9: Changed phenotypes: Deafness, autosomal recessive 116, MIM#619093",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:37:52.497433+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA1 were changed from Autoinflammatory disease, adult onset; VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) to Autoinflammatory disease, adult onset; VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:37:22.042638+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA1 were set to ",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:36:47.004465+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBA1: Changed phenotypes: Autoinflammatory disease, adult onset, VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:33:17.873104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA1 were changed from Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Autoinflammatory disease, adult onset: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) to Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Autoinflammatory disease, adult onset: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) #301054",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-14T07:32:40.826293+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBA1: Changed phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830, Autoinflammatory disease, adult onset: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) #301054",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-13T21:05:11.162881+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR45 as ready",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-11-13T21:05:11.154461+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Green List (High Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-11-13T21:05:06.939325+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR45 as Green List (high evidence)",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-11-13T21:05:06.928468+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Green List (High Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-11-13T21:04:38.540627+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR45 was added\ngene: WDR45 was added to Angelman Rett like syndromes. Sources: Expert list\nMode of inheritance for gene: WDR45 was set to Other\nPublications for gene: WDR45 were set to 26790960; 31409060\nPhenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, MIM#\t300894\nReview for gene: WDR45 was set to GREEN\nAdded comment: XLD.\r\n\r\nMultiple individuals reported as part of Rett-like cohorts. \nSources: Expert list",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-11-13T21:01:11.902348+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNGAP1 as ready",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2020-11-13T21:01:11.885225+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syngap1 has been classified as Green List (High Evidence).",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2020-11-13T21:01:06.831568+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYNGAP1 as Green List (high evidence)",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2020-11-13T21:01:06.824012+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syngap1 has been classified as Green List (High Evidence).",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2020-11-13T21:00:38.841223+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYNGAP1 was added\ngene: SYNGAP1 was added to Angelman Rett like syndromes. Sources: Expert list\nMode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SYNGAP1 were set to 31105003\nPhenotypes for gene: SYNGAP1 were set to Mental retardation, autosomal dominant 5, MIM#\t612621\nReview for gene: SYNGAP1 was set to GREEN\nAdded comment: More than 3 unrelated individuals reported as part of Rett-like cohorts. \nSources: Expert list",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:58:42.988720+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ2 as ready",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:58:42.977735+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq2 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:58:37.600932+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNQ2 as Green List (high evidence)",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:58:37.593171+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq2 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:58:09.102341+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ2 was added\ngene: KCNQ2 was added to Angelman Rett like syndromes. Sources: Expert list\nMode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNQ2 were set to 31105003; 33134511\nPhenotypes for gene: KCNQ2 were set to Epileptic encephalopathy, early infantile, 7, MIM#\t613720\nReview for gene: KCNQ2 was set to GREEN\nAdded comment: More than 3 unrelated individuals identified as part of Rett-like cohorts. \nSources: Expert list",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:55:54.604204+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN2A as ready",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:55:54.594151+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn2a has been classified as Green List (High Evidence).",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:55:47.937714+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN2A as Green List (high evidence)",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:55:47.930311+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn2a has been classified as Green List (High Evidence).",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:55:20.129492+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN2A was added\ngene: SCN2A was added to Angelman Rett like syndromes. Sources: Expert list\nMode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN2A were set to 31105003\nPhenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11, MIM#\t613721; Rett-like\nReview for gene: SCN2A was set to GREEN\nAdded comment: More than 5 unrelated individuals reported in Rett-like cohorts. \nSources: Expert list",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:15:34.095960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR1 as ready",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:15:34.081971+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr1 has been classified as Green List (High Evidence).",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:15:23.469541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: FGFR1.",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:15:09.623496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR1 were changed from to Encephalocraniocutaneous lipomatosis, somatic mosaic 613001; Hartsfield syndrome 615465; Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Jackson-Weiss syndrome 123150; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Trigonocephaly 1 190440",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:14:48.156906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGFR1 were set to ",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:14:28.053638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: FGFR1 was changed from to Other",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:14:01.252338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:13:02.147870+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GALT7 as ready",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:13:02.132142+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galt7 has been classified as Green List (High Evidence).",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:12:56.383615+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B4GALT7 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:12:26.662159+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B4GALT7 were set to ",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:11:56.798543+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B4GALT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:11:30.594629+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: B4GALT7.",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:11:07.937669+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956117, 24755949, 31278392, 31614862, 31862401; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:08:57.390060+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GALT7 as ready",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2020-11-13T20:08:57.381934+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galt7 has been classified as Green List (High Evidence).",
"entity_name": "B4GALT7",
"entity_type": "gene"
}
]
}