HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220917,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1959",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1957",
"results": [
{
"created": "2020-01-27T16:59:01.567991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGO1 was added\ngene: AGO1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AGO1 were set to 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719\nPhenotypes for gene: AGO1 were set to Intellectual disability; autism\nReview for gene: AGO1 was set to GREEN\nAdded comment: Multiple individuals reported with de novo variants in this gene, most as part of large ID cohorts so phenotypic information is scarce; however, given large number I have rated as Green. \nSources: Expert list",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:58:05.566281+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGO1 as ready",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:58:05.558921+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ago1 has been classified as Green List (High Evidence).",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:57:54.910484+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGO1 as Green List (high evidence)",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:57:54.903733+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ago1 has been classified as Green List (High Evidence).",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:56:59.219279+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGO1 was added\ngene: AGO1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AGO1 were set to 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719\nPhenotypes for gene: AGO1 were set to Intellectual disability; autism\nReview for gene: AGO1 was set to GREEN\nAdded comment: Multiple individuals reported with de novo variants in this gene, most as part of large ID cohorts so phenotypic information is scarce; however, given large number I have rated as Green. \nSources: Expert list",
"entity_name": "AGO1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:51:13.144197+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.988",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: CNOT2 as ready",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:51:13.133684+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.988",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: cnot2 has been classified as Green List (High Evidence).",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:51:10.921370+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.988",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: CNOT2 as Green List (high evidence)",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:51:10.912824+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.988",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: cnot2 has been classified as Green List (High Evidence).",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:50:42.306364+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.987",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: CNOT2 was added\ngene: CNOT2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CNOT2 were set to 31512373; 31145527; 28135719\nPhenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies\t618608\nReview for gene: CNOT2 was set to GREEN\ngene: CNOT2 was marked as current diagnostic\nAdded comment: From GEL: Three independent patients with non-sense or intra-genic deletions \nSources: Expert list",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:47:29.899924+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1723",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: CNOT2 as ready",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:47:29.892870+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1723",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: cnot2 has been classified as Green List (High Evidence).",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:47:06.710238+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1723",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: CNOT2 as Green List (high evidence)",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:47:06.699536+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1723",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: cnot2 has been classified as Green List (High Evidence).",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:45:30.895424+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1722",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: CNOT2 was added\ngene: CNOT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CNOT2 were set to 31512373; 31145527; 28135719\nPhenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies\t618608\nReview for gene: CNOT2 was set to GREEN\ngene: CNOT2 was marked as current diagnostic\nAdded comment: From GEL: Three independent patients with non-sense or intra-genic deletions \nSources: Expert list",
"entity_name": "CNOT2",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:43:46.321404+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGL as ready",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:43:46.314073+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agl has been classified as Red List (Low Evidence).",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:42:39.565073+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGL were changed from to Glycogen storage disease IIIa, MIM# 232400",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:42:03.623478+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:41:32.425292+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGL as Red List (low evidence)",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:41:32.408332+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agl has been classified as Red List (Low Evidence).",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:39:41.991075+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IIIa, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:38:06.792566+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1719",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: CNOT1 as ready",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:38:06.785352+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1719",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: cnot1 has been classified as Green List (High Evidence).",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:37:34.959670+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1719",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: CNOT1 as Green List (high evidence)",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:37:34.952285+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1719",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: cnot1 has been classified as Green List (High Evidence).",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:36:13.641934+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1718",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: CNOT1 was added\ngene: CNOT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CNOT1 were set to 31006510; 21679367; 31006513\nPhenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis\t618500\nReview for gene: CNOT1 was set to GREEN\ngene: CNOT1 was marked as current diagnostic\nAdded comment: From GEL: More than three independent families previously described \nSources: Expert list",
"entity_name": "CNOT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:30:20.258962+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive 236600 to Hydrocephalus, nonsyndromic, autosomal recessive 236600",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:29:48.723187+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Hydrocephalus, nonsyndromic, autosomal recessive 236600",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:29:17.492645+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:28:56.335518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.986",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:28:47.272459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.985",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Publications for gene: CCDC88C were set to 25062847; 30398676",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:28:42.965535+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:28:20.173664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.984",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:28:13.233950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.983",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: CCDC88C as Green List (high evidence)",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:28:12.599494+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.983",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: ccdc88c has been classified as Green List (High Evidence).",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:27:41.655123+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC88C as Green List (high evidence)",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:27:41.648095+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88c has been classified as Green List (High Evidence).",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:27:10.320473+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.982",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23042809, 21031079, 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053, Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:27:02.596741+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC88C: Added comment: Three families reported with this phenotype; note also possible link to SCA, mono-allelic variants, two families.; Changed rating: GREEN; Changed publications: 23042809, 21031079; Changed phenotypes: Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Set current diagnostic: yes",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:24:30.496554+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAT1 as ready",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:24:30.489355+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:23:45.446944+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:22:26.540170+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1717",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:21:52.464470+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1717",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:20:46.866516+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1716",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:19:31.353108+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1715",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: CCDC88C as Green List (high evidence)",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:19:31.345893+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1715",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: ccdc88c has been classified as Green List (High Evidence).",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:18:40.935705+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1714",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23042809, 21031079; Phenotypes: Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:10:04.606825+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.982",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: CCDC47 as Green List (high evidence)",
"entity_name": "CCDC47",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:10:04.597255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.982",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: ccdc47 has been classified as Green List (High Evidence).",
"entity_name": "CCDC47",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:09:21.673575+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.981",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: CCDC47 was added\ngene: CCDC47 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC47 were set to 30401460\nPhenotypes for gene: CCDC47 were set to Trichohepatoneurodevelopmental syndrome, 618268\nReview for gene: CCDC47 was set to GREEN\ngene: CCDC47 was marked as current diagnostic\nAdded comment: From GEL: Morimoto el al. (PMID: 30401460) report on 4 individuals from 4 unrelated families with biallelic LoF variants in CCDC47. The phenotype consisted of abnormal (woolly) hair, liver dysfunction, common facial features as well as DD/ID \nSources: Expert list",
"entity_name": "CCDC47",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:08:13.503012+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1714",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: CCDC47 as Green List (high evidence)",
"entity_name": "CCDC47",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:08:13.495916+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1714",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: ccdc47 has been classified as Green List (High Evidence).",
"entity_name": "CCDC47",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:07:30.245960+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1713",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: CCDC47 as Green List (high evidence)",
"entity_name": "CCDC47",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:07:30.238997+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1713",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: ccdc47 has been classified as Green List (High Evidence).",
"entity_name": "CCDC47",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:07:17.419726+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1712",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: CCDC47 as ready",
"entity_name": "CCDC47",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:07:17.411348+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1712",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: ccdc47 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC47",
"entity_type": "gene"
},
{
"created": "2020-01-27T16:05:39.655464+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1712",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: CCDC47 was added\ngene: CCDC47 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC47 were set to 30401460\nPhenotypes for gene: CCDC47 were set to Trichohepatoneurodevelopmental syndrome, 618268\nReview for gene: CCDC47 was set to GREEN\ngene: CCDC47 was marked as current diagnostic\nAdded comment: From GEL: Morimoto el al. (PMID: 30401460) report on 4 individuals from 4 unrelated families with biallelic LoF variants in CCDC47. The phenotype consisted of abnormal (woolly) hair, liver dysfunction, common facial features as well as DD/ID. \nSources: Expert list",
"entity_name": "CCDC47",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:58:45.828399+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACAT1 were changed from to Alpha-methylacetoacetic aciduria, MIM# 203750",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:58:10.776518+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:56:01.311665+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACAT1 as Amber List (moderate evidence)",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:56:01.303959+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:55:56.595664+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADSB as ready",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:55:56.585365+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadsb has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:55:13.614250+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ACAT1: Primarily manifests as metabolic decompensation, DD/ID reported in a few individuals, mostly normal cognition.",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:54:36.049609+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM# 203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:51:25.438166+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADSB were changed from 2-methylbutyrylglycinuria, MIM# 610006 to 2-methylbutyrylglycinuria, MIM# 610006",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:50:36.692258+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADSB were changed from to 2-methylbutyrylglycinuria, MIM# 610006",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:49:51.752269+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACADSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:49:06.636450+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACADSB as Amber List (moderate evidence)",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:49:06.629173+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadsb has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:48:20.196257+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADSB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 2-methylbutyrylglycinuria, MIM# 610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:34:24.135592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLIC2 as ready",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:34:24.128742+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clic2 has been classified as Red List (Low Evidence).",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:34:14.018549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLIC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:33:18.906173+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLIC2 were changed from to Mental retardation, X-linked, syndromic 32, 300886",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:32:27.095715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLIC2 were set to ",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:30:27.152078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLIC2 as Red List (low evidence)",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:30:27.144791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clic2 has been classified as Red List (Low Evidence).",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:30:04.335010+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLIC2 as ready",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:30:04.326826+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clic2 has been classified as Red List (Low Evidence).",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:26:54.576858+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLIC2 were changed from to Mental retardation, X-linked, syndromic 32, 300886",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:26:19.638771+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLIC2 were set to ",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:25:48.737406+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLIC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:25:16.159618+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLIC2 as Red List (low evidence)",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:25:16.151526+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clic2 has been classified as Red List (Low Evidence).",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:24:27.899052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: None; Publications: 22814392, 25927380; Phenotypes: Mental retardation, X-linked, syndromic 32, 300886; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-27T15:23:30.252192+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: None; Publications: 22814392, 25927380; Phenotypes: Mental retardation, X-linked, syndromic 32, 300886; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2020-01-26T22:02:29.094130+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKZF5 as ready",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-01-26T22:02:29.087350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf5 has been classified as Green List (High Evidence).",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-01-26T22:02:15.992924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKZF5 as Green List (high evidence)",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-01-26T22:02:15.986508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf5 has been classified as Green List (High Evidence).",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-01-26T22:01:51.699795+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKZF5 was added\ngene: IKZF5 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF5 were set to 31217188\nPhenotypes for gene: IKZF5 were set to Thrombocytopaenia\nReview for gene: IKZF5 was set to GREEN\nAdded comment: Five unrelated individuals with missense variants in this gene. Two de novo, three segregated with disease \nSources: Expert Review",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-01-26T22:01:39.293005+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKZF5 as ready",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-01-26T22:01:39.285964+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf5 has been classified as Green List (High Evidence).",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-01-26T22:01:28.146607+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKZF5 as Green List (high evidence)",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-01-26T22:01:28.140027+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf5 has been classified as Green List (High Evidence).",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-01-26T22:00:14.947735+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKZF5 was added\ngene: IKZF5 was added to Bleeding Disorders. Sources: Expert Review\nMode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF5 were set to 31217188\nPhenotypes for gene: IKZF5 were set to Thrombocytopaenia\nReview for gene: IKZF5 was set to GREEN\nAdded comment: Five unrelated individuals with missense variants in this gene. Two de novo, three segregated with disease. \nSources: Expert Review",
"entity_name": "IKZF5",
"entity_type": "gene"
}
]
}