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=1650",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1648",
"results": [
{
"created": "2020-08-27T20:02:50.646516+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGA was added\ngene: FGA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGA were set to Afibrinogenaemia",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:50.444656+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBN2 was added\ngene: FBN2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FBN2 were set to Contractural arachnodactyly",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:50.247481+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBN1 was added\ngene: FBN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FBN1 were set to Marfan's syndrome",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:50.069798+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBLN5 was added\ngene: FBLN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBLN5 were set to Cutis laxa",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:49.846065+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCI was added\ngene: FANCI was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCI were set to Fanconi anaemia",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:49.645267+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCG was added\ngene: FANCG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCG were set to Fanconi anaemia",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:49.446172+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCD2 was added\ngene: FANCD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCD2 were set to Fanconi anaemia",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:49.248018+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCC was added\ngene: FANCC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCC were set to Fanconi anaemia",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:49.055824+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCB was added\ngene: FANCB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FANCB were set to Fanconi anaemia",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:48.852868+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCA was added\ngene: FANCA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCA were set to Fanconi anaemia",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:48.655278+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM58A was added\ngene: FAM58A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FAM58A were set to Syndactyly - telecanthus - anogenital and renal malformations",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:48.520040+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM20C was added\ngene: FAM20C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM20C were set to Osteosclerotic bone dysplasia",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:48.322853+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM161A was added\ngene: FAM161A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM161A were set to Retinal dystrophy",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:48.127229+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM126A was added\ngene: FAM126A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM126A were set to Hypomyelination and congenital cataract",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:47.930970+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAH was added\ngene: FAH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAH were set to Tyrosinemia, type I",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:47.735223+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F9 was added\ngene: F9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: F9 were set to Hemophilia B",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:47.536369+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F8 was added\ngene: F8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: F8 were set to Hemophilia A",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:47.342337+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F2 was added\ngene: F2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F2 were set to Prothrombin deficiency",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:47.140117+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F11 was added\ngene: F11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: F11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F11 were set to Factor XI deficiency",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:46.950303+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EZH2 was added\ngene: EZH2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EZH2 were set to Weaver syndrome 2",
"entity_name": "EZH2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:46.754542+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EYA4 was added\ngene: EYA4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EYA4 were set to Deafness, autosomal dominant",
"entity_name": "EYA4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:46.336315+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EYA1 was added\ngene: EYA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EYA1 were set to Branchiootorenal syndrome",
"entity_name": "EYA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:46.139785+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXT2 was added\ngene: EXT2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EXT2 were set to Exostoses, multiple, type 2",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:45.940025+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXT1 was added\ngene: EXT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EXT1 were set to Exostoses, multiple, type 1",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:45.750021+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EVC2 was added\ngene: EVC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:45.555276+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EVC was added\ngene: EVC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC were set to Ellis-van Creveld syndrome",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:45.350987+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETHE1 was added\ngene: ETHE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:45.195142+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFDH was added\ngene: ETFDH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFDH were set to Glutaric acidemia IIC",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:44.938693+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFB was added\ngene: ETFB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFB were set to Glutaric acidemia IIB",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:44.743744+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFA was added\ngene: ETFA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFA were set to Glutaric acidemia IIA",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:44.546841+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESRRB was added\ngene: ESRRB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ESRRB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ESRRB were set to Hearing loss",
"entity_name": "ESRRB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:44.355760+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESCO2 was added\ngene: ESCO2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ESCO2 were set to Roberts syndrome",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:44.221943+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC8 was added\ngene: ERCC8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC8 were set to Cockayne syndrome",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:44.032441+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC6 was added\ngene: ERCC6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC6 were set to Cockayne syndrome",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:43.833685+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC5 was added\ngene: ERCC5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC5 were set to Xeroderma pigmentosum",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:43.638862+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC2 was added\ngene: ERCC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC2 were set to Xeroderma pigmentosum",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:43.441371+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPM2A was added\ngene: EPM2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora)",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:43.249858+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENPP1 was added\ngene: ENPP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:43.062386+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENG was added\ngene: ENG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:42.923265+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMD was added\ngene: EMD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EMD were set to Muscular dystrophy, Emery-Dreifuss",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:42.730729+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELN was added\ngene: ELN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ELN were set to Supravalvar aortic stenosis",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:42.537219+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELANE was added\ngene: ELANE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ELANE were set to Neutropenia, congenital",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:42.342965+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2AK3 was added\ngene: EIF2AK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:42.152937+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EGR2 was added\ngene: EGR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:42.024992+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFTUD2 was added\ngene: EFTUD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis with microcephaly",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:41.821913+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFHC1 was added\ngene: EFHC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EFHC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EFHC1 were set to Myoclonic epilepsy",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:41.632252+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDARADD was added\ngene: EDARADD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EDARADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:41.437023+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDAR was added\ngene: EDAR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EDAR were set to Ectodermal dysplasia, hypohidrotic",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:41.241615+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDA was added\ngene: EDA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:40.827890+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Miyoshi muscular dystrophy 1 for gene: DYSF",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:40.636157+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYSF was added\ngene: DYSF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:40.441835+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DUOX2 was added\ngene: DUOX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:40.244527+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSP was added\ngene: DSP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DSP were set to Epidermolysis bullosa, lethal acantholytic",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:40.059972+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPAGT1 was added\ngene: DPAGT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:39.922490+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOK7 was added\ngene: DOK7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOK7 were set to Congenital myasthenic syndrome",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:39.731455+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOCK8 was added\ngene: DOCK8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK8 were set to Hyper-IgE syndrome",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:39.539523+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNMT3B was added\ngene: DNMT3B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:39.326266+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2M for gene: DNM2",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:39.135203+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNM2 was added\ngene: DNM2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DNM2 were set to Myopathy, centronuclear",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:38.939700+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJB6 was added\ngene: DNAJB6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb girdle",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:38.753612+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAI1 was added\ngene: DNAI1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:38.622764+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH5 was added\ngene: DNAH5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH5 were set to Primary ciliary dyskinesia",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:38.433845+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH11 was added\ngene: DNAH11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:38.243583+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF1 was added\ngene: DNAAF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:38.067806+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMPK was added\ngene: DMPK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DMPK were set to Myotonic dystrophy 1",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:37.920447+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMP1 was added\ngene: DMP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DMP1 were set to Hypophosphatemic rickets, AR",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:37.651851+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Becker muscular dystrophy for gene: DMD",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:37.520499+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMD was added\ngene: DMD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DMD were set to Duchenne muscular dystrophy",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:37.333757+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLL3 was added\ngene: DLL3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLL3 were set to Spondylocostal dysostosis, autosomal recessive, 1",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:37.142968+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLD was added\ngene: DLD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLD were set to Maple syrup urine disease, type III",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:36.951573+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:36.820667+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DGUOK was added\ngene: DGUOK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:36.627848+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DFNB59 was added\ngene: DFNB59 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DFNB59 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DFNB59 were set to Hearing loss",
"entity_name": "DFNB59",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:36.434670+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DFNA5 was added\ngene: DFNA5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DFNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DFNA5 were set to Hearing loss",
"entity_name": "DFNA5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:36.247629+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DES was added\ngene: DES was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DES were set to Myopathy, myofibrillar",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:36.117432+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDC was added\ngene: DDC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:35.928676+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDB2 was added\ngene: DDB2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDB2 were set to Xeroderma pigmentosum",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:35.739373+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCX was added\ngene: DCX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DCX were set to Lissencephaly, X-linked",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:35.334648+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCLRE1C was added\ngene: DCLRE1C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:35.148238+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DBT was added\ngene: DBT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DBT were set to Maple syrup urine disease",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:35.018757+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: D2HGDH was added\ngene: D2HGDH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:34.831125+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP4F22 was added\ngene: CYP4F22 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive",
"entity_name": "CYP4F22",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:34.639541+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP27B1 was added\ngene: CYP27B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:34.452004+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:34.324312+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP21A2 was added\ngene: CYP21A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:34.138348+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP11B1 was added\ngene: CYP11B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:33.949021+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP11A1 was added\ngene: CYP11A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:33.819984+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYBB was added\ngene: CYBB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CYBB were set to Chronic granulomatous disease",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:33.633325+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYBA was added\ngene: CYBA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYBA were set to Chronic granulomatous disease",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:33.442122+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUL7 was added\ngene: CUL7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CUL7 were set to 3-M syndrome",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:33.256624+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUBN was added\ngene: CUBN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CUBN were set to Megaloblastic anemia-1, Finnish type",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:33.130003+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSK was added\ngene: CTSK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSK were set to Pycnodysostosis",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:32.939222+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSD was added\ngene: CTSD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:32.754368+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTNS was added\ngene: CTNS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTNS were set to Cystinosis",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:32.631261+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTC1 was added\ngene: CTC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTC1 were set to Coats plus syndrome",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:32.438950+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSTB was added\ngene: CSTB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:32.254029+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSF2RA was added\ngene: CSF2RA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CSF2RA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CSF2RA were set to Pulmonary alveolar proteinosis",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:32.131664+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRYAB was added\ngene: CRYAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CRYAB were set to Myofibrillar myopathy",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:31.941941+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRTAP was added\ngene: CRTAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:31.754776+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRLF1 was added\ngene: CRLF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRLF1 were set to Crisponi syndrome",
"entity_name": "CRLF1",
"entity_type": "gene"
}
]
}