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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1635",
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"results": [
{
"created": "2020-08-27T21:08:43.744831+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SC5D was added\ngene: SC5D was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SC5D were set to Lathosterolosis",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:42.737531+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to RYR1.\nSource Expert Review Red was added to RYR1.\nMode of inheritance for gene RYR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Congenital fiber type disproportion for gene: RYR1\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:41.938663+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS7 was added\ngene: RPS7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS7 were set to Diamond-Blackfan anemia",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:41.433477+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS10 was added\ngene: RPS10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS10 were set to Diamond-Blackfan anemia",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:40.927150+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL35A was added\ngene: RPL35A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL35A were set to Diamond-Blackfan anemia",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:40.132937+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RHAG was added\ngene: RHAG was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: RHAG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RHAG were set to Rh-deficiency syndrome",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:39.625801+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFX6 was added\ngene: RFX6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFX6 were set to Diabetes, neonatal, with intestinal atresia",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:38.834445+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RELN was added\ngene: RELN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RELN were set to Lissencephaly syndrome",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:38.328076+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RDX was added\ngene: RDX was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: RDX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RDX were set to Deafness, autosomal recessive",
"entity_name": "RDX",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:37.537868+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RANGRF was added\ngene: RANGRF was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: RANGRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RANGRF were set to Brugada syndrome",
"entity_name": "RANGRF",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:37.039037+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD51B was added\ngene: RAD51B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: RAD51B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAD51B were set to Breast and/or ovarian cancer",
"entity_name": "RAD51B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:36.252469+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB3GAP2 was added\ngene: RAB3GAP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:35.741987+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB10 was added\ngene: RAB10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: RAB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAB10 were set to Congenital heart disease",
"entity_name": "RAB10",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:35.230016+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NECTIN1 was added\ngene: NECTIN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NECTIN1 were set to Cleft lip / palate",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:34.441818+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSEN2 was added\ngene: PSEN2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PSEN2 were set to Alzheimer disease, type 4",
"entity_name": "PSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:33.938956+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSEN1 was added\ngene: PSEN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PSEN1 were set to Alzheimer disease, type 3",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:33.147794+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSAT1 was added\ngene: PSAT1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:32.641040+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRRX1 was added\ngene: PRRX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:31.632558+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Charcot-Marie-Tooth disease for gene: PRPS1",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:31.125688+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRPS1 was added\ngene: PRPS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PRPS1 were set to Arts syndrome",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:30.343845+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRODH was added\ngene: PRODH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRODH were set to Hyperprolinemia, type I",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:29.840038+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKCSH was added\ngene: PRKCSH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKCSH were set to Polycystic liver disease",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:28.823526+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to PRKAG2.\nSource Expert Review Red was added to PRKAG2.\nAdded phenotypes Glycogen storage disease of heart, lethal congenital for gene: PRKAG2\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:28.244526+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRICKLE1 was added\ngene: PRICKLE1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:27.527807+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PREPL was added\ngene: PREPL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PREPL were set to Hypotonia - cystinuria syndrome",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:27.018531+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDM16 was added\ngene: PRDM16 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRDM16 were set to Left ventricular noncompaction",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:26.237356+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPOX was added\ngene: PPOX was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PPOX were set to Porphyria variegata",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:25.735934+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMC was added\ngene: POMC was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMC were set to Proopiomelanocortin deficiency",
"entity_name": "POMC",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:25.234162+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PODXL was added\ngene: PODXL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PODXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PODXL were set to Focal and segmental glomerulosclerosis",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:24.448625+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNPLA1 was added\ngene: PNPLA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPLA1 were set to Ichthyosis, autosomal recessive congenital",
"entity_name": "PNPLA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:23.938282+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMS2 was added\ngene: PMS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PMS2 were set to Lynch syndrome",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:23.219520+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD2 was added\ngene: PLOD2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLOD2 were set to Bruck syndrome",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:22.432541+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to PLN.\nSource Expert Review Red was added to PLN.\nAdded phenotypes Cardiomyopathy, familial hypertrophic for gene: PLN\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:21.635290+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGA was added\ngene: PIGA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PIGA were set to Epileptic encephalopathy, early-onset",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:21.130512+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHOX2A was added\ngene: PHOX2A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:20.342814+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHKA1 was added\ngene: PHKA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHKA1 were set to Phosphorylase kinase deficiency",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:19.840977+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX19 was added\ngene: PEX19 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX19 were set to Zellweger syndrome",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:19.340926+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX16 was added\ngene: PEX16 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX16 were set to Zellweger syndrome",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:18.634143+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX14 was added\ngene: PEX14 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX14 were set to Zellweger syndrome",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:18.128960+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX11B was added\ngene: PEX11B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:17.344485+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDSS2 was added\ngene: PDSS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDSS2 were set to Leigh syndrome with nephropathy and COQ10 deficiency",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:16.845097+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDSS1 was added\ngene: PDSS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDSS1 were set to Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:16.133659+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDP1 was added\ngene: PDP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:15.661846+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDLIM3 was added\ngene: PDLIM3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDLIM3 were set to Cardiomyopathy, dilated",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:15.132362+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE11A was added\ngene: PDE11A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PDE11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDE11A were set to Adrenocortical hyperplasia",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:14.346308+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PALB2 was added\ngene: PALB2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PALB2 were set to Breast cancer",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:13.841573+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PABPN1 was added\ngene: PABPN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: PABPN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy",
"entity_name": "PABPN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:13.122019+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: P2RX2 was added\ngene: P2RX2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: P2RX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: P2RX2 were set to Hearing loss",
"entity_name": "P2RX2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:12.625073+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTUD4 was added\ngene: OTUD4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: OTUD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTUD4 were set to Hypogonadotropic hypogonadism, ataxia & dementia",
"entity_name": "OTUD4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:11.840930+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTOG was added\ngene: OTOG was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: OTOG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTOG were set to Deafness, autosomal recessive",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:11.338417+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORC6 was added\ngene: ORC6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC6 were set to Meier-Gorlin syndrome",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:10.840414+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORC4 was added\ngene: ORC4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC4 were set to Meier-Gorlin syndrome",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:09.846597+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to OPA3.\nSource Expert Review Red was added to OPA3.\nMode of inheritance for gene OPA3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Optic atrophy 3 with cataract for gene: OPA3\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:09.331677+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP62 was added\ngene: NUP62 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:08.542910+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP155 was added\ngene: NUP155 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NUP155 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUP155 were set to Atrial fibrillation",
"entity_name": "NUP155",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:08.048129+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUB1 was added\ngene: NUB1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NUB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NUB1 were set to Congenital heart disease",
"entity_name": "NUB1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:07.027611+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to NTRK1.\nSource Expert Review Red was added to NTRK1.\nMode of inheritance for gene NTRK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Medullary thyroid carcinoma, familial for gene: NTRK1\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:05.939834+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to NSDHL.\nSource Expert Review Red was added to NSDHL.\nAdded phenotypes CK syndrome for gene: NSDHL\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:05.434390+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NRXN1 was added\ngene: NRXN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NRXN1 was set to Unknown\nPhenotypes for gene: NRXN1 were set to Autism",
"entity_name": "NRXN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:04.935890+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NRG1 was added\ngene: NRG1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NRG1 were set to Hirschsprung disease",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:04.152365+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR1H4 was added\ngene: NR1H4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NR1H4 were set to Cholestasis, infantile",
"entity_name": "NR1H4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:03.642508+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPPA was added\ngene: NPPA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NPPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NPPA were set to Atrial fibrillation",
"entity_name": "NPPA",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:02.848515+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOTCH1 was added\ngene: NOTCH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOTCH1 were set to Aortic valve disease",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:02.344870+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOP10 was added\ngene: NOP10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NOP10 were set to Dyskeratosis congenita",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:01.555444+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NME8 was added\ngene: NME8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NME8 were set to Ciliary dyskinesia, primary",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:01.069118+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NLRP7 was added\ngene: NLRP7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NLRP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NLRP7 were set to Hydatidiform mole",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:00.553212+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NLGN4X was added\ngene: NLGN4X was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NLGN4X was set to Unknown\nPhenotypes for gene: NLGN4X were set to Autism",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:59.822213+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NLGN3 was added\ngene: NLGN3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NLGN3 was set to Unknown\nPhenotypes for gene: NLGN3 were set to Autism",
"entity_name": "NLGN3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:59.326129+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX3-2 was added\ngene: NKX3-2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:58.543348+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NIN was added\ngene: NIN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NIN were set to Seckel syndrome",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:58.043629+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHP2 was added\ngene: NHP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHP2 were set to Dyskeratosis congenita",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:57.533574+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NFATC1 was added\ngene: NFATC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NFATC1 were set to Congenital heart disease",
"entity_name": "NFATC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:56.526724+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cardiomyopathy, familial hypertrophic for gene: NEXN",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:55.747153+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEXN was added\ngene: NEXN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NEXN were set to Cardiomyopathy, dilated",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:55.246459+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEUROG3 was added\ngene: NEUROG3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEUROG3 were set to Diarrhea 4, malabsorptive, congenital",
"entity_name": "NEUROG3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:54.748841+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK8 was added\ngene: NEK8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEK8 were set to Nephronophthisis",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:54.037477+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK1 was added\ngene: NEK1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEK1 were set to Short rib-polydactyly syndorme, type II",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:53.532585+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEDD4L was added\ngene: NEDD4L was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NEDD4L were set to Epilepsy, photosensitive generalised",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:52.750272+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEBL was added\ngene: NEBL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NEBL were set to Cardiomyopathy, dilated",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:52.321831+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NCF4 was added\ngene: NCF4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF4 were set to Chronic granulomatous disease",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:51.828091+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAA15 was added\ngene: NAA15 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NAA15 were set to Congenital heart disease",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:51.043336+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAA10 was added\ngene: NAA10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:50.318705+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cardiomyopathy, hypertrophic for gene: MYPN",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:49.535432+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYPN was added\ngene: MYPN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYPN were set to Cardiomyopathy, dilated",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:49.042174+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYOZ2 was added\ngene: MYOZ2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MYOZ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYOZ2 were set to Cardiomyopathy, hypertrophic",
"entity_name": "MYOZ2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:48.325778+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYOT was added\ngene: MYOT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYOT were set to Myofibrillar myopathy",
"entity_name": "MYOT",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:47.829339+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYOM1 was added\ngene: MYOM1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MYOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYOM1 were set to Cardiomyopathy, hypertrophic",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:47.333524+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO5A was added\ngene: MYO5A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO5A were set to Griscelli syndrome",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:46.547637+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO1F was added\ngene: MYO1F was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MYO1F was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO1F were set to Sensorineural hearing loss",
"entity_name": "MYO1F",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:46.050571+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO1E was added\ngene: MYO1E was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MYO1E was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO1E were set to Focal segmental glomerulosclerosis",
"entity_name": "MYO1E",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:45.341587+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO1C was added\ngene: MYO1C was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MYO1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO1C were set to Sensorineural hearing loss",
"entity_name": "MYO1C",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:44.845457+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYLK2 was added\ngene: MYLK2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MYLK2 was set to Unknown\nPhenotypes for gene: MYLK2 were set to Cardiomyopathy, hypertrophic",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:43.842152+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Congenital fiber type disproportion for gene: MYH7",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:43.130304+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to MYH7.\nSource Expert Review Red was added to MYH7.\nAdded phenotypes Scapuloperoneal syndrome, myopathic type for gene: MYH7\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:42.117439+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cardiomyopathy, familial hypertrophic for gene: MYH6",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:41.051906+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cardiomyopathy, dilated for gene: MYH6",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:40.619604+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH6 was added\ngene: MYH6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH6 were set to Atrial septal defect",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:39.554087+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to MYBPC3.\nSource Expert Review Red was added to MYBPC3.\nAdded phenotypes Cardiomyopathy, dilated for gene: MYBPC3\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:39.044151+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYBPC1 was added\ngene: MYBPC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: MYBPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYBPC1 were set to Distal arthrogryposis type I",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:07:38.330197+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAVIN4 was added\ngene: CAVIN4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: CAVIN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CAVIN4 were set to Cardiomyopathy, dilated",
"entity_name": "CAVIN4",
"entity_type": "gene"
}
]
}