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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1946",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1944",
"results": [
{
"created": "2020-02-02T22:11:53.671943+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TKFC as ready",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:11:53.661490+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tkfc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:11:48.172819+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TKFC as Amber List (moderate evidence)",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:11:48.162971+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tkfc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:11:10.576417+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TKFC was added\ngene: TKFC was added to Cataract. Sources: Literature\nMode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TKFC were set to 32004446\nPhenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction\nReview for gene: TKFC was set to AMBER\nAdded comment: Two unrelated individuals reported. \nSources: Literature",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:10:50.437462+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TKFC as Amber List (moderate evidence)",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:10:50.425678+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tkfc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:09:51.104809+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TKFC was added\ngene: TKFC was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TKFC were set to 32004446\nPhenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction\nReview for gene: TKFC was set to AMBER\nAdded comment: Two unrelated individuals reported. \nSources: Literature",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:02:46.916932+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RALGAPA1 as ready",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:02:46.906663+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ralgapa1 has been classified as Green List (High Evidence).",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:02:41.490489+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RALGAPA1 as Green List (high evidence)",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:02:41.466320+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ralgapa1 has been classified as Green List (High Evidence).",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:02:03.634555+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RALGAPA1 was added\ngene: RALGAPA1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RALGAPA1 were set to 32004447\nPhenotypes for gene: RALGAPA1 were set to Intellectual disability; hypotonia; infantile spasms.\nReview for gene: RALGAPA1 was set to GREEN\nAdded comment: Four unrelated individuals reported. \nSources: Literature",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T21:59:29.510748+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RALGAPA1 as ready",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T21:59:29.500434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ralgapa1 has been classified as Green List (High Evidence).",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T21:59:18.766941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RALGAPA1 as Green List (high evidence)",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T21:59:18.756699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ralgapa1 has been classified as Green List (High Evidence).",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T21:58:57.371418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RALGAPA1 was added\ngene: RALGAPA1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RALGAPA1 were set to 32004447\nPhenotypes for gene: RALGAPA1 were set to Intellectual disability; hypotonia; infantile spasms.\nReview for gene: RALGAPA1 was set to GREEN\nAdded comment: Four unrelated individuals reported. \nSources: Literature",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T21:58:34.093813+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RALGAPA1 as ready",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T21:58:34.083341+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ralgapa1 has been classified as Green List (High Evidence).",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T21:57:26.343784+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RALGAPA1 as Green List (high evidence)",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T21:57:26.319979+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ralgapa1 has been classified as Green List (High Evidence).",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T21:55:13.837103+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RALGAPA1 was added\ngene: RALGAPA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RALGAPA1 were set to 32004447\nPhenotypes for gene: RALGAPA1 were set to Intellectual disability; hypotonia; infantile spasms.\nReview for gene: RALGAPA1 was set to GREEN\nAdded comment: Four unrelated individuals reported. \nSources: Literature",
"entity_name": "RALGAPA1",
"entity_type": "gene"
},
{
"created": "2020-02-02T20:06:33.170287+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FDXR as ready",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-02-02T20:06:33.159959+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdxr has been classified as Red List (Low Evidence).",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-02-02T20:06:16.696351+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM# 617717",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-02-02T20:05:34.902014+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-02-02T20:04:35.701463+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FDXR as Red List (low evidence)",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-02-02T20:04:35.690122+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fdxr has been classified as Red List (Low Evidence).",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:57:38.077280+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 27, MIM# 609307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:52:43.023797+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FDXR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FDXR",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:28:13.911549+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCG as ready",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:28:13.901268+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancg has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:27:25.337467+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCG were changed from to Fanconi anemia, complementation group G, MIM# 614082",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:26:18.439484+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCB as ready",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:26:18.429033+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancb has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:26:15.222948+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:25:50.335140+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCB were changed from to Fanconi anemia, complementation group B, MIM# 300514",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:25:21.245699+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FANCG as Amber List (moderate evidence)",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:25:21.234943+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancg has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:24:38.329427+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group G, MIM# 614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:23:18.825398+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:22:45.366470+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FANCD2 as Amber List (moderate evidence)",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:22:45.356363+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:21:55.860742+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FANCD2: Added comment: Clinical presentation is typically with congenital abnormalities/BMF. Only ~10% have ID as part of the phenotype.; Changed rating: AMBER",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:21:03.533731+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FANCB as Amber List (moderate evidence)",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:21:03.523455+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancb has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-02-02T19:20:22.605515+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group B, MIM# 300514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:50:59.397796+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellect normal in xeroderma pigmentosum; mild learning difficulties described in XFE progressed syndrome.; to: Intellect normal in xeroderma pigmentosum; mild learning difficulties described in XFE progeroid syndrome.",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:49:34.766154+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPB41L1 as ready",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:49:34.755378+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epb41l1 has been classified as Red List (Low Evidence).",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:49:09.639319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPB41L1 as ready",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:49:09.629206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epb41l1 has been classified as Red List (Low Evidence).",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:48:55.470979+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPB41L1 were changed from to Mental retardation, autosomal dominant 11, MIM# 614257",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:48:36.305492+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPB41L1 were set to ",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:48:14.279523+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPB41L1 were changed from to Mental retardation, autosomal dominant 11, MIM# 614257",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:47:57.495328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPB41L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:47:35.740699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPB41L1 as Red List (low evidence)",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:47:35.730507+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epb41l1 has been classified as Red List (Low Evidence).",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:47:15.536929+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPB41L1: Rating: RED; Mode of pathogenicity: None; Publications: 21376300, 26539891, 25961944; Phenotypes: Mental retardation, autosomal dominant 11, MIM# 614257; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:47:03.687179+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPB41L1 were set to ",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:46:21.067212+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPB41L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:45:31.275556+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPB41L1 as Red List (low evidence)",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:45:31.265341+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epb41l1 has been classified as Red List (Low Evidence).",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:44:44.845989+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPB41L1: Rating: RED; Mode of pathogenicity: None; Publications: 21376300, 26539891, 25961944; Phenotypes: Mental retardation, autosomal dominant 11 614257; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPB41L1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:16:20.630495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMC1 as ready",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:16:20.619934+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emc1 has been classified as Green List (High Evidence).",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:15:08.887944+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMG1 as ready",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:15:08.877712+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:14:49.055344+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMG1 as Amber List (moderate evidence)",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:14:49.044772+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:14:08.851568+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMG1 was added\ngene: EMG1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EMG1 were set to 19463982\nPhenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, MIM#211180\nReview for gene: EMG1 was set to AMBER\nAdded comment: Founder mutation in Hutterite, D86G. \nSources: Expert list",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:08:45.506975+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EMC1 were changed from to Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:08:25.437366+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EMC1 were set to ",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:08:06.272776+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EMC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:07:42.308111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942288, 29271071; Phenotypes: Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:05:41.222764+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMC1 as ready",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:05:41.210139+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emc1 has been classified as Green List (High Evidence).",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:05:28.218642+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMC1 as Green List (high evidence)",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:05:28.194159+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emc1 has been classified as Green List (High Evidence).",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2020-02-02T15:01:41.004040+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMC1 was added\ngene: EMC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: EMC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EMC1 were set to 26942288; 29271071\nPhenotypes for gene: EMC1 were set to Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM#\t616875\nReview for gene: EMC1 was set to GREEN\ngene: EMC1 was marked as current diagnostic\nAdded comment: Four unrelated families with bi-allelic variants in this gene reported. Single individual with heterozygous variant: insufficient evidence at present for mono allelic variants causing disease. \nSources: Expert list",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:48:38.414765+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFNB1 as ready",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:48:38.404391+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efnb1 has been classified as Red List (Low Evidence).",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:48:24.531609+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFNB1 were changed from to Craniofrontonasal dysplasia, MIM# 304110",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:47:42.640176+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFNB1 was changed from Unknown to Other",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:47:04.956972+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EFNB1 as Red List (low evidence)",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:47:04.946442+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efnb1 has been classified as Red List (Low Evidence).",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:44:59.479564+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFNB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia, MIM# 304110; Mode of inheritance: Other",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:39:57.352211+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOD2 as ready",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:39:57.341715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sod2 has been classified as Red List (Low Evidence).",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:39:20.468730+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOD2 were changed from to {Microvascular complications of diabetes 6} 612634",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:38:58.015474+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:38:38.566270+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOD2 as Red List (low evidence)",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:38:38.556080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sod2 has been classified as Red List (Low Evidence).",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:38:19.887753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Microvascular complications of diabetes 6} 612634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOD2",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:35:54.064874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATAD3A as ready",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:35:54.054103+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atad3a has been classified as Green List (High Evidence).",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:35:35.516125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome, MIM# 617183",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:35:14.178185+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATAD3A were set to ",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-02-02T14:34:41.398567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATAD3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATAD3A",
"entity_type": "gene"
}
]
}