HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1349",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1347",
"results": [
{
"created": "2021-04-16T14:31:22.756642+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.70",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rpl10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2021-04-16T10:49:44.652129+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.69",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "changed review comment from: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722.\r\n\r\nNote that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35, MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation); to: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722.\r\n\r\nNote that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35, MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation). The syndromal form is rare - a total of 10 males have been reported in the literature (PMID: 29066376). \r\n\r\nGiven the disputed link to autism, and rarity of the syndromal form of the condition, the gene has been excluded from the MM panel.",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:10:03.510227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNH1 as ready",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:10:03.492484+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnh1 has been classified as Green List (High Evidence).",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:09:55.900743+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNH1 were changed from to Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:09:34.626647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNH1 were set to ",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:09:16.039874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:08:57.790597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811134; Phenotypes: Temple-Baraitser syndrome, OMIM:611816, Zimmermann-Laband syndrome 1, OMIM:135500, Intellectual disability, Encephalopathy without features of TBS/ZLS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:07:56.271139+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNH1 as ready",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:07:56.260307+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnh1 has been classified as Green List (High Evidence).",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:07:52.266604+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNH1 were changed from to Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:07:19.160986+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNH1 were set to ",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:06:46.786386+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:05:24.233584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GREB1L were changed from Renal hypodysplasia/aplasia 3, OMIM# 617805 to Renal hypodysplasia/aplasia 3, OMIM# 617805; Deafness, autosomal dominant 80, MIM# 619274",
"entity_name": "GREB1L",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:04:24.921085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GREB1L were set to 29100091",
"entity_name": "GREB1L",
"entity_type": "gene"
},
{
"created": "2021-04-16T09:03:56.813254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GREB1L: Added comment: DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves. Four unrelated families reported, no comment on a renal phenotype. Note variants in this gene are also associated with renal agenesis.; Changed publications: 29100091, 29955957, 32585897; Changed phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805, Deafness, autosomal dominant 80, MIM# 619274",
"entity_name": "GREB1L",
"entity_type": "gene"
},
{
"created": "2021-04-15T21:20:28.897721+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3684",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811134; Phenotypes: Temple-Baraitser syndrome, OMIM:611816, Zimmermann-Laband syndrome 1, OMIM:135500, Intellectual disability, Encephalopathy without features of TBS/ZLS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:52:08.184614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: PLD1.",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:51:12.364977+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ9 as ready",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:51:12.355506+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq9 has been classified as Green List (High Evidence).",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:51:09.203528+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ9 were changed from dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly to Coenzyme Q10 deficiency, primary, 5, MIM# 614654; dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:50:52.417222+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ9 were set to PMID: 31821167: PMID: 19375058: PMID: 29560582",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:50:34.564717+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COQ9 as Green List (high evidence)",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:50:34.553446+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq9 has been classified as Green List (High Evidence).",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:50:25.086278+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM# 614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:49:28.878131+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MIPEP as ready",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:49:28.867831+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mipep has been classified as Green List (High Evidence).",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:49:23.620427+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MIPEP were changed from cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts to Combined oxidative phosphorylation deficiency 31, MIM# 617228; cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:49:05.355652+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIPEP as Green List (high evidence)",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:49:05.346231+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mipep has been classified as Green List (High Evidence).",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:48:54.545071+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MIPEP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 31, MIM# 617228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MIPEP",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:47:55.219813+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS22 as ready",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:47:55.210138+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps22 has been classified as Green List (High Evidence).",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:47:51.963478+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPS22 were changed from hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI to Combined oxidative phosphorylation deficiency 5 , MIM#611719; hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:47:39.839205+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRPS22 were set to PMID: 17873122: PMID: 28752220: PMID: 21189481",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:47:12.899565+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPS22 as Green List (high evidence)",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:47:12.890351+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps22 has been classified as Green List (High Evidence).",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:46:59.328880+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 5 , MIM#611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:45:58.733311+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS14 as ready",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:45:58.722414+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps14 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:45:50.584337+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPS14 were changed from hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability to Combined oxidative phosphorylation deficiency 38, MIM# 618378; hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:45:32.616126+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPS14 as Red List (low evidence)",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:45:32.605340+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps14 has been classified as Red List (Low Evidence).",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:45:07.499705+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPS14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:44:12.771756+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELAC2 as ready",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:44:12.761874+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elac2 has been classified as Green List (High Evidence).",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:44:02.911159+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELAC2 were changed from cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities to Combined oxidative phosphorylation deficiency 17, MIM# 615440; cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:43:43.868758+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM# 615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:43:17.028388+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELAC2 as Green List (high evidence)",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:43:17.016496+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elac2 has been classified as Green List (High Evidence).",
"entity_name": "ELAC2",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:42:40.387507+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UQCRFS1 as Green List (high evidence)",
"entity_name": "UQCRFS1",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:42:40.376692+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrfs1 has been classified as Green List (High Evidence).",
"entity_name": "UQCRFS1",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:42:30.203267+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UQCRFS1: Added comment: Functional evidence in addition to the two families reported, upgrade to Green.; Changed rating: GREEN",
"entity_name": "UQCRFS1",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:41:27.105155+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UQCRFS1 as ready",
"entity_name": "UQCRFS1",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:41:27.092028+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCRFS1",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:41:24.103084+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UQCRFS1 were changed from cardiomyopathy; thrombocytopenia; hypotonia to Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775; cardiomyopathy; thrombocytopenia; hypotonia",
"entity_name": "UQCRFS1",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:41:03.662124+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UQCRFS1 as Amber List (moderate evidence)",
"entity_name": "UQCRFS1",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:41:03.651414+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UQCRFS1",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:40:53.596851+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UQCRFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRFS1",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:37:43.261735+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMM2 as ready",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:37:43.251529+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:37:38.972958+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMM2 were changed from hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros to Congenital disorder of glycosylation, type Ia, MIM# 212065; hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:37:26.276641+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMM2 were set to PMID: 28954837: PMID: 33388235",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:37:10.205887+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMM2 as Green List (high evidence)",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:37:10.196562+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:37:00.163199+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28954837, 33388235; Phenotypes: Congenital disorder of glycosylation, type Ia, MIM# 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:32:34.707828+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B10 as ready",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:32:34.698076+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b10 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:32:30.435379+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B10 were changed from intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration to HSD10 mitochondrial disease, MIM# 300438; intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:32:17.603653+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD17B10 were set to PMID: 22127393 (review paper): PubMed: 20077426 (source paper)",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:31:52.400433+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HSD17B10 as Green List (high evidence)",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:31:52.390492+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b10 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-04-15T20:31:42.435012+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2021-04-15T18:17:17.671291+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMC10 as ready",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T18:17:17.661055+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emc10 has been classified as Green List (High Evidence).",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T18:17:06.590731+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMC10 as Green List (high evidence)",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T18:17:06.582118+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emc10 has been classified as Green List (High Evidence).",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T18:16:05.009097+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMC10 was added\ngene: EMC10 was added to Genetic Epilepsy. Sources: Literature\nfounder tags were added to gene: EMC10.\nMode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EMC10 were set to 32869858; 33531666\nPhenotypes for gene: EMC10 were set to Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264\nReview for gene: EMC10 was set to GREEN\nAdded comment: Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders.\r\n\r\nPMID 32869858 : One Saudi family with 2 affected individuals with mild ID, speech delay, and GDD. WES and Sanger sequencing revealed a homozygous splice acceptor site variant (c.679‐1G>A) in EMC10 . Variant segregated within the family. RT‐qPCR showed a substantial decrease in the relative EMC10 gene expression in the patients. \r\n\r\nPMID 33531666: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect (but different to the previously reported family). \nSources: Literature",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:45:38.420688+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EMC10 were changed from Intellectual disability to Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:45:15.675964+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMC10 as Green List (high evidence)",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:45:15.666238+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emc10 has been classified as Green List (High Evidence).",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:44:54.794724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: EMC10.",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:44:39.260986+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: EMC10.",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:44:32.177937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EMC10: Added comment: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect (but different to the previously reported family).; Changed rating: GREEN; Changed publications: 32869858, 33531666; Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:42:46.387368+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EMC10 were changed from Developmental delay and intellectual disability, no OMIM# to Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:41:51.489178+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMC10 as ready",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:41:51.477559+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emc10 has been classified as Green List (High Evidence).",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:40:42.958507+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EMC10 were set to PMID: 32869858",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:39:48.165309+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMC10 as Green List (high evidence)",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:39:48.156022+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emc10 has been classified as Green List (High Evidence).",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:39:15.142178+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect.; to: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect (but different to the previously reported family).",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:38:52.979983+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EMC10: Rating: GREEN; Mode of pathogenicity: None; Publications: 33531666; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:15:32.953744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGB3 as ready",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:15:32.942259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb3 has been classified as Green List (High Evidence).",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:15:24.979379+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGB3 were changed from to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:15:07.280410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGB3 were set to ",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:12:36.122391+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITGB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:12:18.299164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18065693, 19336737, 20081061, 23253071; Phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:11:57.563036+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGB3 as ready",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2021-04-15T17:11:57.551803+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb3 has been classified as Green List (High Evidence).",
"entity_name": "ITGB3",
"entity_type": "gene"
}
]
}