HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221292,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1928",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1926",
"results": [
{
"created": "2020-02-14T10:21:28.778243+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T10:21:14.310320+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSAT1 were changed from to Phosphoserine aminotransferase deficiency, MIM# 610992; Neu-Laxova syndrome 2, MIM# 616038",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T10:20:47.063652+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSAT1 were set to ",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T10:20:27.454499+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSAT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T10:19:46.739051+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T10:19:00.380504+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSAT1 as Amber List (moderate evidence)",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T10:19:00.366698+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T10:17:50.771603+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26960553, 17436247, 25152457; Phenotypes: Phosphoserine aminotransferase deficiency, MIM# 610992, Neu-Laxova syndrome 2, MIM# 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:58:37.079953+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751 to Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751; intellectual disability, autosomal recessive",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:58:10.208357+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRRT2 were set to ",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:57:42.856098+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRRT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:57:10.164904+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRRT2 as Amber List (moderate evidence)",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:57:10.149535+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:56:38.558480+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not part of the phenotype.; to: ID is not part of the phenotype for the mono allelic conditions; two families described with bi-allelic variants and more severe neurological phenotype, including ID.",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:55:32.882738+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRRT2: Changed phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066, Episodic kinesigenic dyskinesia 1, MIM# 128200, Seizures, benign familial infantile, 2, MIM# 605751, intellectual disability, autosomal recessive",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:54:59.243963+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRRT2: Changed rating: AMBER; Changed publications: 23352743, 25595153, 23398397; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:47:59.551665+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRRT2 as ready",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:47:59.538030+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prrt2 has been classified as Red List (Low Evidence).",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:47:53.127023+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:45:47.038830+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:45:17.324481+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRRT2 as Red List (low evidence)",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:45:17.311489+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prrt2 has been classified as Red List (Low Evidence).",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T09:44:44.051104+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066, Episodic kinesigenic dyskinesia 1, MIM# 128200, Seizures, benign familial infantile, 2, MIM# 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-02-13T18:37:15.879756+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POU1F1 as ready",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2020-02-13T18:37:15.865984+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou1f1 has been classified as Red List (Low Evidence).",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2020-02-13T18:37:08.699202+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POU1F1 were changed from to Pituitary hormone deficiency, combined, 1, MIM# 613038",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2020-02-13T18:36:34.352287+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POU1F1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2020-02-13T18:34:48.259800+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POU1F1 as Red List (low evidence)",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2020-02-13T18:34:48.246723+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou1f1 has been classified as Red List (Low Evidence).",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2020-02-13T18:34:16.732241+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POU1F1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 1, MIM# 613038; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:30:24.314407+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1C as ready",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:30:24.301067+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1c has been classified as Green List (High Evidence).",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:30:15.847126+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR1C as Green List (high evidence)",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:30:15.837857+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1c has been classified as Green List (High Evidence).",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:29:42.070683+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR1C was added\ngene: POLR1C was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR1C were set to 26151409\nPhenotypes for gene: POLR1C were set to Leukodystrophy, hypomyelinating, 11, MIM#\t616494\nReview for gene: POLR1C was set to GREEN\nAdded comment: 8 unrelated individuals reported, ID is part of the phenotype. \nSources: Expert list",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:11:20.388551+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PNP as Red List (low evidence)",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:11:20.374999+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnp has been classified as Red List (Low Evidence).",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:10:48.055671+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:10:35.870121+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PNP: Added comment: Neurological phenotype is predominantly spasticity rather than ID.; Changed rating: RED",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:04:59.500485+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMPCA as ready",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:04:59.487154+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmpca has been classified as Green List (High Evidence).",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:04:51.739594+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMPCA as Green List (high evidence)",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:04:51.725834+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmpca has been classified as Green List (High Evidence).",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2020-02-13T17:04:19.097888+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMPCA was added\ngene: PMPCA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMPCA were set to 25808372; 26657514; 27148589; 30617178\nPhenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2, MIM#\t213200\nReview for gene: PMPCA was set to GREEN\nAdded comment: Seven families reported. Three had the same founder variant. ID observed in five of the affected families (includes the three with the same founder variant). \nSources: Expert list",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:47:48.855524+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D2A as ready",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:47:48.842026+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Green List (High Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:47:45.987059+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from to COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:47:21.398396+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D2A were set to ",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:46:58.973688+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:34:28.931722+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFER as ready",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:34:28.918117+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfer has been classified as Green List (High Evidence).",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:34:24.423686+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GFER were changed from to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:33:54.720214+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GFER were set to ",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:33:26.242839+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GFER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:32:54.207262+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:32:08.452662+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFER as ready",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:32:08.443224+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfer has been classified as Green List (High Evidence).",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:32:02.425046+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GFER were changed from to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:31:16.158969+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GFER were set to ",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:30:43.985453+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GFER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:30:12.003880+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:27:56.135595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFER as ready",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:27:56.122138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfer has been classified as Green List (High Evidence).",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:27:48.232267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GFER were changed from to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:27:28.878039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GFER were set to ",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:27:10.356478+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GFER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:25:45.522890+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPIA as ready",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:25:45.508924+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpia has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:25:39.192303+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPIA as Amber List (moderate evidence)",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:25:39.183021+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpia has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:23:45.768240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT14 as ready",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:23:45.759143+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt14 has been classified as Green List (High Evidence).",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:23:37.220881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT14 were changed from to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:23:16.775523+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT14 were set to ",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:22:59.113874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KRT14 was changed from to Other",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:22:35.573518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT14 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:22:15.735075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960809, 18049449; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:19:38.458171+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT14 as ready",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:19:38.444521+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt14 has been classified as Green List (High Evidence).",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:19:32.169004+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT14 were changed from to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:19:04.363555+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT14 were set to ",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:18:35.061134+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KRT14 was changed from to Other",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-13T16:18:12.292258+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT14 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-13T12:50:27.832538+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1348",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2020-02-13T11:54:11.936024+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.65",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22241855, 27081510; Phenotypes: COACH syndrome, 216360, Joubert syndrome 9, 612285, Meckel syndrome 6, 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-02-13T11:33:15.475805+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.74",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: RPIA was added\ngene: RPIA was added to Regression. Sources: Expert Review\nMode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPIA were set to 14988808; 10589548; 20499043; 28801340; 30088433\nPhenotypes for gene: RPIA were set to RPIA (ribose 5-phosphate isomerase A)\nReview for gene: RPIA was set to AMBER\nAdded comment: Two of three patients described regressed in early childhood after earlier developmental delay\r\n\r\nFrom GEL: Three patients described in total, one of these with functional data: Patient 1 with comp het missense and frameshift as well as functional data, early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy Patient 2 with missense, delayed early development, seizures and regression at the age of 7 with MRI white matter abnormalities Patient 3 with comp het missense and canonical splice, clinical biochem corroboration ribitol and arabitol in urine demonstrated significant elevations (>20x), neonatal onset leukoencephalopathy and developmental delay \nSources: Expert Review",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T11:28:03.834258+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.608",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: RPIA as ready",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T11:28:03.820741+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.608",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: rpia has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T11:27:55.569850+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.608",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: RPIA as Amber List (moderate evidence)",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T11:27:55.560532+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.608",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: rpia has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T11:26:30.869898+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.607",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: RPIA was added\ngene: RPIA was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPIA were set to 14988808; 10589548; 20499043; 28801340; 30088433\nPhenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM 608611\nReview for gene: RPIA was set to AMBER\nAdded comment: 2 of three patients described had seizures.\r\n\r\nFrom GEL: Three patients described in total, one of these with functional data: \r\n\r\nPatient 1 with comp het missense and frameshift as well as functional data, early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy \r\n\r\nPatient 2 with missense, delayed early development, seizures and regression at the age of 7 with MRI white matter abnormalities \r\n\r\nPatient 3 with comp het missense and canonical splice, clinical biochem corroboration ribitol and arabitol in urine demonstrated significant elevations (>20x), neonatal onset leukoencephalopathy and developmental delay \nSources: Expert Review",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T11:24:17.095068+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2152",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: RPIA as ready",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T11:24:17.085500+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2152",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: rpia has been classified as Green List (High Evidence).",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T11:22:49.590495+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2152",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: RPIA as Green List (high evidence)",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T11:22:49.581802+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2152",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: rpia has been classified as Green List (High Evidence).",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T10:38:19.281888+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.18",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-13T10:38:11.769886+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.5",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-13T10:36:32.323470+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2151",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: RPIA was added\ngene: RPIA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPIA were set to 14988808; 10589548; 20499043; 28801340; 30088433\nPhenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM 608611\nReview for gene: RPIA was set to GREEN\ngene: RPIA was marked as current diagnostic\nAdded comment: From GEL: Three patients described in total, one of these with functional data:\r\n\r\nPatient 1 with comp het missense and frameshift as well as functional data, early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy\r\n\r\nPatient 2 with missense, delayed early development, seizures and regression at the age of 7 with MRI white matter abnormalities\r\n\r\nPatient 3 with comp het missense and canonical splice, clinical biochem corroboration ribitol and arabitol in urine demonstrated significant elevations (>20x), neonatal onset leukoencephalopathy and developmental delay \nSources: Expert Review",
"entity_name": "RPIA",
"entity_type": "gene"
},
{
"created": "2020-02-13T10:13:44.644536+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.19",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16960809, 18049449; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-02-12T21:32:34.077748+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEKHG2 as ready",
"entity_name": "PLEKHG2",
"entity_type": "gene"
}
]
}