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{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1514",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1512",
"results": [
{
"created": "2020-11-03T07:28:16.041745+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROBO3 as Green List (high evidence)",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:28:16.033511+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo3 has been classified as Green List (High Evidence).",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:27:44.783529+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REV3L as ready",
"entity_name": "REV3L",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:27:44.771336+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rev3l has been classified as Green List (High Evidence).",
"entity_name": "REV3L",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:27:42.690364+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REV3L were changed from möbius syndrome to Möbius syndrome",
"entity_name": "REV3L",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:27:31.560351+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: REV3L as Green List (high evidence)",
"entity_name": "REV3L",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:27:31.552646+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rev3l has been classified as Green List (High Evidence).",
"entity_name": "REV3L",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:26:15.088838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXND1 as ready",
"entity_name": "PLXND1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:26:15.080673+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxnd1 has been classified as Green List (High Evidence).",
"entity_name": "PLXND1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:26:06.526745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLXND1 as Green List (high evidence)",
"entity_name": "PLXND1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:26:06.511453+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxnd1 has been classified as Green List (High Evidence).",
"entity_name": "PLXND1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:25:46.735721+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLXND1 was added\ngene: PLXND1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PLXND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLXND1 were set to 26068067\nPhenotypes for gene: PLXND1 were set to Möbius syndrome\nReview for gene: PLXND1 was set to GREEN\nAdded comment: De novo variants in 3 unrelated individuals with Moebius syndrome with some functional evidence. \nSources: Literature",
"entity_name": "PLXND1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:24:06.317481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECEL1 as ready",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:24:06.307090+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ecel1 has been classified as Green List (High Evidence).",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:23:59.274036+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ECEL1 were changed from to Arthrogryposis, distal, type 5D, MIM# 615065",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:23:37.877032+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXND1 as ready",
"entity_name": "PLXND1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:23:37.853531+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxnd1 has been classified as Green List (High Evidence).",
"entity_name": "PLXND1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:23:35.305734+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLXND1 were changed from möbius syndrome to Möbius syndrome",
"entity_name": "PLXND1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:23:24.905109+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLXND1 as Green List (high evidence)",
"entity_name": "PLXND1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:23:24.894669+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxnd1 has been classified as Green List (High Evidence).",
"entity_name": "PLXND1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:22:10.672802+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: MYMK.",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:21:58.625561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Sources: Expert list; to: Carey-Fineman-Ziter syndrome (CFZS) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. Intellect has been normal in molecularly confirmed cases. Defect in myoblast fusion. 6 unrelated families reported with CFZ phenotype and bi-allelic MYMK variants. p.Pro91Thr is a common founder variant, which is hypomorphic.",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:21:48.667350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYMK: Changed phenotypes: Carey-Fineman-Ziter syndrome, OMIM #254940",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:21:25.109366+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: MYMK.",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:21:16.428162+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Distal contractures are part of the phenotype of this muscle disorder. \nSources: Expert list; to: Carey-Fineman-Ziter syndrome (CFZS) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. Intellect has been normal in molecularly confirmed cases. Defect in myoblast fusion. 6 unrelated families reported with CFZ phenotype and bi-allelic MYMK variants. p.Pro91Thr is a common founder variant, which is hypomorphic.\r\n\r\nDistal contractures are part of the phenotype of this muscle disorder. \r\nSources: Expert list",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:19:47.959778+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYMK as ready",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:19:47.947916+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mymk has been classified as Green List (High Evidence).",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:19:42.580224+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: MYMK.",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:19:33.713124+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYMK were set to PMID: 28681861",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:19:18.944222+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYMK as Green List (high evidence)",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:19:18.929908+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mymk has been classified as Green List (High Evidence).",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:19:09.065826+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 29560417; Phenotypes: Carey-Fineman-Ziter syndrome, MIM# 254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:13:17.176501+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA1 as ready",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:13:17.167801+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa1 has been classified as Green List (High Evidence).",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:12:37.831016+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXA1 as Green List (high evidence)",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:12:37.822965+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa1 has been classified as Green List (High Evidence).",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:08:53.920850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ECEL1 were set to ",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:08:02.794207+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ECEL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:07:42.476357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261301, 23236030, 25099528, 24782201; Phenotypes: Arthrogryposis, distal, type 5D, MIM# 615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:06:35.137157+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECEL1 as ready",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:06:35.128294+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ecel1 has been classified as Green List (High Evidence).",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:06:32.281864+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ECEL1 were changed from to Arthrogryposis, distal, type 5D, MIM# 615065",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:06:04.381892+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ECEL1 were set to ",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:05:35.438856+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ECEL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:05:04.388415+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261301, 23236030, 25099528, 24782201; Phenotypes: Arthrogryposis, distal, type 5D, MIM# 615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:00:30.384946+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECEL1 as ready",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:00:30.374242+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ecel1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:00:22.986934+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ECEL1 as Amber List (moderate evidence)",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T07:00:22.975884+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ecel1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-03T06:59:08.770475+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRHL2 as ready",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2020-11-03T06:59:08.761719+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhl2 has been classified as Red List (Low Evidence).",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2020-11-03T06:59:02.579161+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: GRHL2.",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2020-11-03T06:57:55.128711+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHN1 as ready",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2020-11-03T06:57:55.121616+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chn1 has been classified as Green List (High Evidence).",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2020-11-03T06:57:50.910059+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHN1 as Green List (high evidence)",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2020-11-03T06:57:50.897357+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chn1 has been classified as Green List (High Evidence).",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2020-11-03T06:57:16.237737+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB2B as ready",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2020-11-03T06:57:16.225195+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2b has been classified as Red List (Low Evidence).",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2020-11-03T06:57:12.798596+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB2B were set to 23001566",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2020-11-03T06:56:57.414428+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2020-11-03T00:41:07.733042+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: REV3L was added\ngene: REV3L was added to Congenital fibrosis of the extraocular muscles. Sources: Literature\nMode of inheritance for gene: REV3L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: REV3L were set to PMID: 26068067\nPhenotypes for gene: REV3L were set to möbius syndrome\nReview for gene: REV3L was set to GREEN\nAdded comment: de novo variants in 3 unrelated individuals with möbius syndrome and some functional evidence \nSources: Literature",
"entity_name": "REV3L",
"entity_type": "gene"
},
{
"created": "2020-11-03T00:36:24.531591+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: PLXND1 was added\ngene: PLXND1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature\nMode of inheritance for gene: PLXND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLXND1 were set to PMID: 26068067\nPhenotypes for gene: PLXND1 were set to möbius syndrome\nReview for gene: PLXND1 was set to GREEN\nAdded comment: PMID 26068067 : de novo mutations in 3 unrelated patients with moebius syndrome with some functional evidence. \nSources: Literature",
"entity_name": "PLXND1",
"entity_type": "gene"
},
{
"created": "2020-11-03T00:30:18.720219+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: MYMK was added\ngene: MYMK was added to Congenital fibrosis of the extraocular muscles. Sources: Other\nMode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYMK were set to PMID: 28681861\nPhenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome, MIM 254940\nReview for gene: MYMK was set to GREEN\nAdded comment: Congenital myopathy due to defect in myoblast fusion. Moebius syndrome / ophthalmoplegia is a common feature. \nSources: Other",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2020-11-03T00:29:58.604101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5272",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: PRKG2 was added\ngene: PRKG2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRKG2 were set to 33106379\nPhenotypes for gene: PRKG2 were set to Acromesomelic dysplasia\nReview for gene: PRKG2 was set to GREEN\nAdded comment: - PMID: 33106379 (2020) - Distinct homozygous variants in PRKG2 identified in two unrelated individuals, both with a skeletal dysplasia associated with severe short stature due to acromesomelic limb shortening, brachydactyly, mild to moderate platyspondyly and progressively increasing metaphyseal alterations of the long bones.\r\n\r\nFunctional studies showed both variants result in NMD and disrupt the downstream MAPK signalling pathway in response to FGF2. The role of cGKII, encoded by PRKG2, in skeletal growth has been established in several animal models (references provided in paper). \nSources: Literature",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2020-11-02T23:52:55.927992+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: ROBO3 was added\ngene: ROBO3 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature\nMode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ROBO3 were set to PMID: 15105459; 16525029\nPhenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313)\nReview for gene: ROBO3 was set to GREEN\nAdded comment: PMID 15105459: 10 patients with homozygous variants (1 nonsense, 1 splice site, 2 frameshift, and 6 missense mutations)\r\n\r\nPMID 16525029 - 2 unrelated children with sporadic HGPPS: one patient compound het for 2 different 2-bp deletions, one patient compound het for a missense and a nonsense mutation. \nSources: Literature",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2020-11-02T23:46:14.564407+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: HOXA1 was added\ngene: HOXA1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature\nMode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HOXA1 were set to 17875913; 20227628; 18412118\nPhenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome; Bosley-Salih-Alorainy syndrome - 601536\nReview for gene: HOXA1 was set to GREEN\nAdded comment: The HOXA1-related syndrome phenotype is variable. The most common features in affected individuals are limited horizontal gaze (diagnosed as Duane syndrome in BSAS and horizontal gaze palsy in ABDS patients) and sensorineural deafness; facial weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery and/or conotruncal heart defects also occur (PMID 20227628) \nSources: Literature",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2020-11-02T23:36:16.110951+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: CHN1 was added\ngene: CHN1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature\nMode of inheritance for gene: CHN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHN1 were set to PMID 33004823; 18653847; 21555619\nPhenotypes for gene: CHN1 were set to Duane retraction syndrome 2, 604356\nReview for gene: CHN1 was set to GREEN\nAdded comment: Gain-of function aetiology: PMID 18653847 - in vitro evidence that gain-of-function heterozygous missense CHN1 mutations in patients with Duane retraction syndrome increase α2-chimaerin RacGAP activity; 21555619 - separate CHN1 mutations 2 families predicted to result in its hyperactivation. \nSources: Literature",
"entity_name": "CHN1",
"entity_type": "gene"
},
{
"created": "2020-11-02T23:20:32.684600+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: SALL4 was added\ngene: SALL4 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature\nMode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SALL4 were set to Duane-radial ray syndrome, 607323\nReview for gene: SALL4 was set to GREEN\nAdded comment: well documented association with Duane-radial ray syndrome. \nSources: Literature",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-11-02T23:13:15.201456+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: ECEL1 was added\ngene: ECEL1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature\nMode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ECEL1 were set to PMID: 25173900\nPhenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D - 615065; Congenital cranial dysinnervation disorder\nReview for gene: ECEL1 was set to AMBER\nAdded comment: 25173900 described an ocular phenotype consistent with congenital cranial dysinnervation disorder (CCDD) in 3 of 4 siblings with ECEL-1 related distal arthrogryposis. The fourth affected sibling (with the mildest arthrogryposis in the family) had no ocular phenotype. Of 26 other reported recessive ECEL1 mutation cases (14 families), all had arthrogryposis, 19 had documented ptosis, and 4 had documented complex strabismus. One of these cases had both documented ptosis and complex strabismus. \nSources: Literature",
"entity_name": "ECEL1",
"entity_type": "gene"
},
{
"created": "2020-11-02T22:57:12.379581+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "reviewed gene: GRHL2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29110737; Phenotypes: Deafness, autosomal dominant 28, Corneal dystrophy, posterior polymorphous, 4; Mode of inheritance: None",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2020-11-02T22:42:21.007414+11:00",
"panel_name": "Congenital fibrosis of the extraocular muscles",
"panel_id": 3379,
"panel_version": "0.8",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11425694, 23001566; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, Fibrosis of extraocular muscles, congenital; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2020-11-02T21:07:41.831885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:32:08.687217+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:BCAP31 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-11-02T18:07:31.273637+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FOXP4: Changed rating: AMBER",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:07:22.833708+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP4 as ready",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:07:22.822156+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:07:18.954945+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXP4 as Amber List (moderate evidence)",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:07:18.947495+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:06:47.622090+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXP4 was added\ngene: FOXP4 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXP4 were set to 33110267\nPhenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities\nReview for gene: FOXP4 was set to GREEN\nAdded comment: Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays. \nSources: Literature",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:05:26.573994+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP4 as ready",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:05:26.562550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp4 has been classified as Green List (High Evidence).",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:05:17.779669+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXP4 as Green List (high evidence)",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:05:17.767091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp4 has been classified as Green List (High Evidence).",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:05:00.408529+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXP4 was added\ngene: FOXP4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXP4 were set to 33110267\nPhenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities\nReview for gene: FOXP4 was set to GREEN\nAdded comment: Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays. \nSources: Literature",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:03:37.913261+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP4 as ready",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:03:37.900676+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:03:31.954976+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXP4 as Amber List (moderate evidence)",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:03:31.944468+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:02:58.618244+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FOXP4: Changed rating: AMBER",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:02:51.427542+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early challenges.\r\nSources: Literature; to: Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays.\r\nSources: Literature",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T18:02:40.122207+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Six unrelated individuals reported, 5 with missense variants in the forkhead box DNA-binding domain of FOXP4, and one individual with a truncating variant. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia, cervical spine abnormalities, and ptosis. \nSources: Literature; to: Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early challenges.\r\nSources: Literature",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:59:53.006813+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXP4 was added\ngene: FOXP4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXP4 were set to 33110267\nPhenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities\nReview for gene: FOXP4 was set to GREEN\nAdded comment: Six unrelated individuals reported, 5 with missense variants in the forkhead box DNA-binding domain of FOXP4, and one individual with a truncating variant. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia, cervical spine abnormalities, and ptosis. \nSources: Literature",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:54:45.258194+11:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:STN1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-11-02T17:51:05.485566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAH1 as ready",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:51:05.477264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah1 has been classified as Green List (High Evidence).",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:50:27.094270+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAH1 as ready",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:50:27.085402+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah1 has been classified as Green List (High Evidence).",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:50:23.258139+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASAH1 were changed from to Farber lipogranulomatosis, MIM# 228000",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:49:54.911794+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-11-02T17:49:25.691750+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASAH1",
"entity_type": "gene"
}
]
}