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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1741",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1739",
"results": [
{
"created": "2020-07-07T17:45:23.344439+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.170",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DNMBP was added\ngene: DNMBP was added to Cataract. Sources: Literature\nMode of inheritance for gene: DNMBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNMBP were set to 30290152\nPhenotypes for gene: DNMBP were set to congenital cataract\nReview for gene: DNMBP was set to GREEN\ngene: DNMBP was marked as current diagnostic\nAdded comment: Multiple individuals from three independent large consanguineous families with bilateral infantile cataracts. Seperate hom nonsense variants. \nSources: Literature",
"entity_name": "DNMBP",
"entity_type": "gene"
},
{
"created": "2020-07-07T17:04:59.703408+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.34",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20887964, PMID: 29263200; Phenotypes: Hypogonadotropic hypogonadism 14 with or without anosmia, MIM#614858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:57:43.462614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYGA as ready",
"entity_name": "CRYGA",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:57:43.453669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryga has been classified as Red List (Low Evidence).",
"entity_name": "CRYGA",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:57:33.161446+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRYGA was added\ngene: CRYGA was added to Mendeliome. Sources: Expert list\nrefuted tags were added to gene: CRYGA.\nMode of inheritance for gene: CRYGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CRYGA were set to 30450742; 28839118\nPhenotypes for gene: CRYGA were set to Cataract\nReview for gene: CRYGA was set to RED\nAdded comment: Reported as potentially disease causing in multiple individuals from two seperate families, but in both cases variant is present in the general population (20 Hets for one variant, >1000 hets and 9 homs in other variant) \nSources: Expert list",
"entity_name": "CRYGA",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:55:36.994806+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.169",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag refuted was removed from gene: CRYGA.\nTag disputed tag was added to gene: CRYGA.",
"entity_name": "CRYGA",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:51:52.636776+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: CRYGA.",
"entity_name": "CRYGA",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:50:12.582103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKR1E2 as ready",
"entity_name": "AKR1E2",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:50:12.569082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akr1e2 has been classified as Red List (Low Evidence).",
"entity_name": "AKR1E2",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:49:40.459001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKR1E2 was added\ngene: AKR1E2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: AKR1E2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AKR1E2 were set to 26622071\nPhenotypes for gene: AKR1E2 were set to congenital cataracts\nReview for gene: AKR1E2 was set to RED\nAdded comment: Same family with homozygous canonical splice variants and 3 cases of congenital cataract described in 2012 (original) and 2015 (review). No other descriptions since. \nSources: Expert list",
"entity_name": "AKR1E2",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:36:25.875814+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTSL4 as ready",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:36:25.866068+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl4 has been classified as Red List (Low Evidence).",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:35:38.079013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTSL4 as ready",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:35:38.066797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl4 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:35:30.751287+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTSL4 were changed from to Ectopia lentis, isolated, autosomal recessive, MIM# 225100",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:35:11.474574+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAMTSL4 were set to ",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:34:52.338614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAMTSL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:34:33.983152+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ADAMTSL4.",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:34:22.290866+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19200529, 20564469, 20141359, 21051722; Phenotypes: Ectopia lentis, isolated, autosomal recessive, MIM# 225100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:31:34.364789+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTSL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:28:03.198749+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD12 were changed from Polyneuropathy; Hearing loss; Ataxia; Retinitis pigmentosa; Cataracts to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:26:55.899212+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:25:59.555673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIST1H4C as ready",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:25:59.546076+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4c has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:25:52.039401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4C were changed from to Growth delay, microcephaly and intellectual disability",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:25:33.910221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIST1H4C were set to ",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:25:15.051976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIST1H4C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:24:55.481088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HIST1H4C: Rating: GREEN; Mode of pathogenicity: None; Publications: 28920961; Phenotypes: Growth delay, microcephaly and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:24:20.313013+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.168",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CRYGA as ready",
"entity_name": "CRYGA",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:24:20.298954+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.168",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cryga has been classified as Red List (Low Evidence).",
"entity_name": "CRYGA",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:24:04.476480+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.168",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CRYGA was added\ngene: CRYGA was added to Cataract. Sources: Literature\nMode of inheritance for gene: CRYGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CRYGA were set to 30450742; 28839118\nReview for gene: CRYGA was set to RED\nAdded comment: Reported as potentially disease causing in multiple individuals from two seperate families, but in both cases variant is present in the general population (20 Hets for one variant, >1000 hets and 9 homs in other variant) \nSources: Literature",
"entity_name": "CRYGA",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:23:58.340235+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIST1H4C as ready",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:23:58.328911+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4c has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:23:55.966219+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4C were changed from to Growth delay, microcephaly and intellectual disability",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:23:25.691172+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIST1H4C were set to ",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:22:58.138586+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIST1H4C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:22:24.593523+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HIST1H4C: Rating: GREEN; Mode of pathogenicity: None; Publications: 28920961; Phenotypes: Growth delay, microcephaly and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:02:20.299728+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.167",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: AKR1E2 as ready",
"entity_name": "AKR1E2",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:02:20.289864+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.167",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: akr1e2 has been classified as Red List (Low Evidence).",
"entity_name": "AKR1E2",
"entity_type": "gene"
},
{
"created": "2020-07-07T15:01:58.953169+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.167",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: AKR1E2 was added\ngene: AKR1E2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: AKR1E2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AKR1E2 were set to 26622071; 26622071\nPhenotypes for gene: AKR1E2 were set to congenital cararact\nReview for gene: AKR1E2 was set to RED\nAdded comment: Same family with homozygous canonical splice variants and 3 cases of congenital cataract described in 2012 (original) and 2015 (review). No other descriptions since. \nSources: Literature",
"entity_name": "AKR1E2",
"entity_type": "gene"
},
{
"created": "2020-07-07T14:52:05.809004+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.166",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ADAMTSL4 was added\ngene: ADAMTSL4 was added to Cataract. Sources: Literature\nMode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTSL4 were set to 22338190; 20702823\nPhenotypes for gene: ADAMTSL4 were set to ectopia lentis; cataract\nReview for gene: ADAMTSL4 was set to RED\nAdded comment: Early onset cataract described in multiple patients with variants in ADAMTSL4 as a secondary manifestation to Ectopia lentis et pupillae (MIM 225200) \nSources: Literature",
"entity_name": "ADAMTSL4",
"entity_type": "gene"
},
{
"created": "2020-07-07T14:38:24.780242+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.165",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ABHD12 as ready",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-07-07T14:38:24.766524+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.165",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: abhd12 has been classified as Green List (High Evidence).",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-07-07T14:38:03.513561+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.165",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ABHD12 as Green List (high evidence)",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-07-07T14:38:03.503576+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.165",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: abhd12 has been classified as Green List (High Evidence).",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-07-07T14:37:15.212564+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.164",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ABHD12 was added\ngene: ABHD12 was added to Cataract. Sources: Literature\nMode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD12 were set to 32077159; 29571850; 28448692; 24697911\nPhenotypes for gene: ABHD12 were set to Polyneuropathy; Hearing loss; Ataxia; Retinitis pigmentosa; Cataracts\nAdded comment: Two siblings each from two families with hom nonsense and PHARC syndrome and early on-set cataract, and a complex homozygous nonsense variant in an adult with early on-set cataract have been descibed recently in addition to original mutations described in 11 families from 4 different countries (Fiskerstrand et al (2010)). Total over 10 independent cases mentioned in literature. \nSources: Literature",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-07-07T14:03:49.640560+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2737",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: HIST1H4C as Green List (high evidence)",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T14:03:49.628181+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2737",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: hist1h4c has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T14:03:14.780590+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2736",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: HIST1H4C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:19:57.525198+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLOD3: Changed rating: GREEN",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:18:57.498853+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLOD3: Changed phenotypes: Lysyl hydroxylase 3 deficiency, MIM#612394",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:16:23.565877+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:16:23.552022+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:16:20.725400+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLG were changed from to POLG-related disorders",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:15:52.504053+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLG were set to ",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:15:24.278682+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:14:50.958965+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301791, 29358615, 22405928; Phenotypes: POLG-related disorders; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:10:55.825270+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIC1 as ready",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:10:55.809782+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ric1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:10:50.978443+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIC1 as Amber List (moderate evidence)",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:10:50.969254+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ric1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:10:20.779229+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIC1 was added\ngene: RIC1 was added to Cataract. Sources: Expert list\nMode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIC1 were set to 27878435; 31932796\nPhenotypes for gene: RIC1 were set to CATIFA syndrome, MIM#\t618761\nReview for gene: RIC1 was set to AMBER\nAdded comment: 8 individuals from two consanguineous families, homozygous for same missense variant (founder effect). Cataract is a key feature of the phenotype. \nSources: Expert list",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:05:25.624578+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC16A12 as ready",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:05:25.615359+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a12 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:05:09.137226+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A12 were changed from to Cataract 47, juvenile, with microcornea 612018",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:04:38.796919+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC16A12 were set to ",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:04:10.681148+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC16A12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-07-07T13:03:39.999528+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC16A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20181839, 21778275, 18304496, 29088427; Phenotypes: Cataract 47, juvenile, with microcornea 612018; Mode of inheritance: None",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-07-07T12:49:09.399861+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WFS1 as ready",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2020-07-07T12:49:09.386322+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wfs1 has been classified as Green List (High Evidence).",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2020-07-07T12:49:00.659628+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WFS1 as Green List (high evidence)",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2020-07-07T12:49:00.649600+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wfs1 has been classified as Green List (High Evidence).",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2020-07-07T12:48:30.931577+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WFS1 was added\ngene: WFS1 was added to Cataract. Sources: Expert list\nMode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WFS1 were set to 32350710\nPhenotypes for gene: WFS1 were set to Wolfram syndrome 1, MIM#\t222300\nReview for gene: WFS1 was set to GREEN\nAdded comment: Cataracts reported in ~40% in a cohort of affected individuals. \nSources: Expert list",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2020-07-07T12:43:36.538172+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XYLT2 as ready",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2020-07-07T12:43:36.529138+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xylt2 has been classified as Green List (High Evidence).",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2020-07-07T12:43:29.265922+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XYLT2 as Green List (high evidence)",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2020-07-07T12:43:29.255403+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xylt2 has been classified as Green List (High Evidence).",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2020-07-07T12:42:59.633101+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XYLT2 was added\ngene: XYLT2 was added to Cataract. Sources: Expert list\nMode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XYLT2 were set to 26027496\nPhenotypes for gene: XYLT2 were set to Spondyloocular syndrome, MIM#\t605822\nReview for gene: XYLT2 was set to GREEN\nAdded comment: Cataracts are a key feature of this condition. \nSources: Expert list",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2020-07-06T21:25:28.628383+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PNPT1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-07-06T21:25:13.982222+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-07-06T21:24:45.370904+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPT1 were set to 23084290; 31752325",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-07-06T21:24:01.077900+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PNPT1: Changed rating: GREEN",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-07-06T21:13:57.377630+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.358",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30244537; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:57:25.215096+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOR1A as ready",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:57:25.203146+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tor1a has been classified as Green List (High Evidence).",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:57:08.949846+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOR1A as Green List (high evidence)",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:57:08.937302+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tor1a has been classified as Green List (High Evidence).",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:45:51.657977+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASGRP2 as ready",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:45:51.645515+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasgrp2 has been classified as Green List (High Evidence).",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:45:38.708565+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.70",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "changed review comment from: 5 patients reported by multiple authors supporting that biallelic mutations (missense, inframe del and protein truncating) in TOR1A cause severe arthrogryposis. Other variable features are developmental delay, strabismus and tremor. Parents carriers do not have symptoms of autosomal dominant dystonia, also associate with this gene and known to have incomplete penetrance (OMIM). \nSources: Literature; to: 5 families reported by multiple authors supporting that biallelic mutations (missense, inframe del and protein truncating) in TOR1A cause severe arthrogryposis. Other variable features are developmental delay, strabismus and tremor. Parents carriers do not have symptoms of autosomal dominant dystonia, also associate with this gene and known to have incomplete penetrance (OMIM). \r\nSources: Literature",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:45:35.112132+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RASGRP2 as Green List (high evidence)",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:45:35.097426+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasgrp2 has been classified as Green List (High Evidence).",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:45:04.818891+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RASGRP2 was added\ngene: RASGRP2 was added to Bleeding Disorders. Sources: Literature\nMode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RASGRP2 were set to 24958846; 32609603; 32041177; 31724816; 30849270\nPhenotypes for gene: RASGRP2 were set to Bleeding disorder, platelet-type, 18, MIM#\t615888\nReview for gene: RASGRP2 was set to GREEN\nAdded comment: Multiple affected families reported. \nSources: Literature",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:34:56.799277+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OFD1 were changed from Joubert syndrome 10, MIM 300804; Orofaciodigital syndrome I, MIM 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM 300209 to Joubert syndrome 10, MIM 300804; Orofaciodigital syndrome I, MIM 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM 300209; Primary ciliary dyskinesia",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:33:08.971024+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OFD1 as Green List (high evidence)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:33:08.961384+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Green List (High Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:32:35.463812+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: The conditions associated with this gene are not primary ciliary dyskinesias. Gene is appropriate for Ciliopathy panel. However, note 3 individuals reported with PCD phenotype.; to: The conditions associated with this gene are not primary ciliary dyskinesias. Gene is appropriate for Ciliopathy panel. However, note 7 individuals reported with PCD phenotype.",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:32:20.315138+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OFD1: Changed rating: GREEN",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-06T19:32:13.176793+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OFD1: Changed publications: 31366608, 31373179",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-07-06T18:59:57.508803+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OFD1 as Amber List (moderate evidence)",
"entity_name": "OFD1",
"entity_type": "gene"
}
]
}