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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1459",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1457",
"results": [
{
"created": "2020-12-29T12:47:33.358067+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: YIF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:47:05.688306+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:46:33.318073+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YIF1B: Changed phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:46:12.765368+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM#\t619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:45:48.181958+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YIF1B: Changed phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:44:34.487016+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BSCL2 as ready",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:44:34.475081+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bscl2 has been classified as Green List (High Evidence).",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:44:24.765034+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BSCL2 as Green List (high evidence)",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:44:24.752318+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bscl2 has been classified as Green List (High Evidence).",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:43:55.320767+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BSCL2 was added\ngene: BSCL2 was added to Regression. Sources: Expert Review\nMode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BSCL2 were set to 23564749; 27452399\nPhenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy\t615924\nReview for gene: BSCL2 was set to GREEN\nAdded comment: Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade. Patients may show a mild or typical lipodystrophic appearance.\r\n\r\nAt least 5 unrelated families reported. The recurrent c.985C-T variant causes skipping of exon 7 (founder effect). \nSources: Expert Review",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:30:56.392590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSTO1 as ready",
"entity_name": "GSTO1",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:30:56.383163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsto1 has been classified as Red List (Low Evidence).",
"entity_name": "GSTO1",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:30:43.382952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSTO1 were changed from to Deficiency of Human Glutathione Transferase Omega 1",
"entity_name": "GSTO1",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:30:20.175118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSTO1 were set to ",
"entity_name": "GSTO1",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:30:00.673321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSTO1 as Red List (low evidence)",
"entity_name": "GSTO1",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:30:00.662672+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsto1 has been classified as Red List (Low Evidence).",
"entity_name": "GSTO1",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:20:12.645413+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.190",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:18:43.271271+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.190",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: PLS1 was added\ngene: PLS1 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PLS1 were set to Deafness\nReview for gene: PLS1 was set to GREEN\nAdded comment: Deafness_isolated list \nSources: Expert list",
"entity_name": "PLS1",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:16:24.408781+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.190",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:14:42.970979+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.190",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: OSBPL2 was added\ngene: OSBPL2 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: OSBPL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: OSBPL2 were set to Deafness, autosomal dominant 67, MIM# 616340\nReview for gene: OSBPL2 was set to GREEN\nAdded comment: From deafness_isolated \nSources: Expert list",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:12:45.332105+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.190",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: MSRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSRB3",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:10:58.047799+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.190",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: MPZL2 was added\ngene: MPZL2 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111, MIM#618145\nReview for gene: MPZL2 was set to GREEN\nAdded comment: From deafness_isolated \nSources: Expert list",
"entity_name": "MPZL2",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:08:57.612109+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.190",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: LMX1A was added\ngene: LMX1A was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: LMX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: LMX1A were set to Deafness MIM#601412\nAdded comment: Can be paediatric or adult onset ?inclusion \nSources: Expert list",
"entity_name": "LMX1A",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:06:46.475827+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.190",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2020-12-29T09:39:01.337765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5857",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GSTO1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21106529; Phenotypes: Deficiency of Human Glutathione Transferase Omega 1; Mode of inheritance: None",
"entity_name": "GSTO1",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:52:05.696738+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"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": "2020-12-29T08:51:32.732561+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:51:32.721021+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:51:29.493310+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from to Brain small vessel disease with or without ocular anomalies, MIM#175780",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:51:04.077093+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A1 were set to ",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:50:36.455223+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:50:07.037471+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24628545; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM#175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:47:09.166664+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT1 as ready",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:47:09.154004+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt1 has been classified as Green List (High Evidence).",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:47:03.094328+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Walker-Walburg syndrome",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:46:35.429848+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:46:05.095248+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Walker-Walburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:44:35.358882+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OCRL as ready",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:44:35.348550+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ocrl has been classified as Green List (High Evidence).",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:44:30.914346+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OCRL were changed from to Lowe syndrome, MIM# 309000",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:44:04.111361+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:43:35.420979+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lowe syndrome, MIM# 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:42:41.836344+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDP as ready",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:42:41.822768+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndp has been classified as Green List (High Evidence).",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:42:36.371303+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDP were changed from to Norrie disease, MIM# 310600",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:42:04.918672+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:41:35.758799+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:39:57.129655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: NAA10.",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:39:30.339318+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA10 as ready",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:39:30.323738+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa10 has been classified as Green List (High Evidence).",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:39:25.862534+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: NAA10.",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:39:18.863853+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1, MIM# 309800",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:38:41.932183+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAA10 were set to ",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:38:10.858371+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:37:40.705487+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842225, 24431331; Phenotypes: Microphthalmia, syndromic 1, MIM# 309800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:35:18.870520+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITX3 as ready",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:35:18.858679+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitx3 has been classified as Green List (High Evidence).",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:35:16.438333+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PITX3 were changed from to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:34:48.130561+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PITX3 were set to ",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:33:26.664303+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:32:57.655784+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29405783; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250, Cataract 11, multiple types, MIM# 610623, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:27:04.723327+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRR12 as ready",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:27:04.709102+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prr12 has been classified as Green List (High Evidence).",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:26:59.538591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRR12 as ready",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:26:59.524255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prr12 has been classified as Green List (High Evidence).",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:26:51.759274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRR12 were changed from to Intellectual disability; Iris abnormalities; Complex microphthalmia",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:26:31.783891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRR12 were set to ",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:26:13.216619+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRR12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:26:04.330603+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRR12 were changed from to Complex microphthalmia",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:25:52.942559+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33314030, 29556724; Phenotypes: Intellectual disability, Iris abnormalities, Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:25:13.823203+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRR12 were set to ",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:24:19.046892+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRR12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:23:49.650945+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33314030, 29556724; Phenotypes: Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRR12",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:19:49.887225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRSS56 as ready",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:19:49.866522+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prss56 has been classified as Green List (High Evidence).",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:19:42.270470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRSS56 were changed from to Microphthalmia, isolated 6, MIM# 613517",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:19:23.782884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRSS56 were set to ",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:19:03.735477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRSS56 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:18:43.791886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: None; Publications: 21532570, 23127749, 31992737; Phenotypes: Microphthalmia, isolated 6, MIM# 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:17:56.862221+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRSS56 as ready",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:17:56.851682+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prss56 has been classified as Green List (High Evidence).",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:17:54.143555+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRSS56 were changed from to Microphthalmia, isolated 6, MIM# 613517",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:17:26.160155+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRSS56 were set to ",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:16:53.140947+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRSS56 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:16:52.305841+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HCCS.",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:16:17.439200+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: None; Publications: 21532570, 23127749, 31992737; Phenotypes: Microphthalmia, isolated 6, MIM# 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:08:45.678090+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCCS as ready",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:08:45.664208+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hccs has been classified as Green List (High Evidence).",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:08:42.536988+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, MIM# 309801",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:08:13.456926+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCCS were set to ",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:07:28.359862+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCCS 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": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:06:58.347688+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033964, 30068298, 24735900; Phenotypes: Linear skin defects with multiple congenital anomalies 1, MIM# 309801; 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": "HCCS",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:03:22.290647+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJA8 were changed from Cataract 1, multiple types, MIM# 116200; Microphthalmia to Cataract 1, multiple types, MIM# 116200; Microphthalmia",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:03:21.091088+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA8 as ready",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:03:21.076830+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja8 has been classified as Green List (High Evidence).",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:03:02.902560+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJA8 were changed from to Cataract 1, multiple types, MIM# 116200; Microphthalmia",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:02:31.327528+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJA8 were set to ",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:02:02.634139+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:01:31.773144+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30498267, 29464339, 10480374, 18006672; Phenotypes: Cataract 1, multiple types, MIM# 116200, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T08:00:50.206897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA8 as ready",
"entity_name": "GJA8",
"entity_type": "gene"
}
]
}