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{
"count": 221292,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1651",
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"results": [
{
"created": "2020-08-27T20:02:31.632192+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CREBBP was added\ngene: CREBBP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:31.443362+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPT2 was added\ngene: CPT2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT2 were set to Carnitine palmitoyltransferase 2 deficiency",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:31.258401+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPT1A was added\ngene: CPT1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I deficiency",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:31.131102+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPS1 was added\ngene: CPS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:30.945165+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COLQ was added\ngene: COLQ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLQ were set to Congenital myasthenic syndrome",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:30.817443+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL7A1 was added\ngene: COL7A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL7A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:30.636524+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL6A3 was added\ngene: COL6A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:30.446979+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL6A2 was added\ngene: COL6A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:30.321915+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL6A1 was added\ngene: COL6A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:30.135864+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL5A2 was added\ngene: COL5A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:29.943535+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL5A1 was added\ngene: COL5A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, type I",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:29.818817+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL4A5 was added\ngene: COL4A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: COL4A5 were set to Alport syndrome",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:29.633163+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL4A4 was added\ngene: COL4A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL4A4 were set to Alport syndrome",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:29.448932+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL4A3 was added\ngene: COL4A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL4A3 were set to Alport syndrome",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:29.324388+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL3A1 was added\ngene: COL3A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:29.139593+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL2A1 was added\ngene: COL2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL2A1 were set to Stickler syndrome",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:28.954058+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL1A2 was added\ngene: COL1A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type II",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:28.830899+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL1A1 was added\ngene: COL1A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:28.645671+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL17A1 was added\ngene: COL17A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:28.522408+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL11A2 was added\ngene: COL11A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL11A2 were set to Otospondylomegaepiphyseal dysplasia",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:28.338447+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL11A1 was added\ngene: COL11A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL11A1 were set to Stickler syndrome",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:28.155532+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COCH was added\ngene: COCH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: COCH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COCH were set to Deafness, non-syndromic, autosomal dominant",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:28.036429+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNGB3 was added\ngene: CNGB3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNGB3 were set to Achromatopsia-3",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:27.847847+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLRN1 was added\ngene: CLRN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLRN1 were set to Usher syndrome, type 3A",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:27.726509+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN8 was added\ngene: CLN8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:27.543736+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN6 was added\ngene: CLN6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:27.354624+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN5 was added\ngene: CLN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:27.232559+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN3 was added\ngene: CLN3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:27.069127+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN19 was added\ngene: CLDN19 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:26.927452+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN14 was added\ngene: CLDN14 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN14 were set to Hearing loss, non-syndromic, autosomal recessive",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:26.530779+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN5 was added\ngene: CLCN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CLCN5 were set to Dent disease",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:26.348576+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNG was added\ngene: CHRNG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNG were set to Pterygium syndrome",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:26.227875+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNE was added\ngene: CHRNE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNE were set to Congenital myasthenic syndrome",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:26.047918+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRND was added\ngene: CHRND was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRND were set to Congenital myasthenic syndrome",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:25.923056+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNA1 was added\ngene: CHRNA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNA1 were set to Congenital myasthenic syndrome",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:25.738161+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHM was added\ngene: CHM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CHM were set to Choroideremia",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:25.618799+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHKB was added\ngene: CHKB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:25.436724+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHD7 was added\ngene: CHD7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHD7 were set to CHARGE syndrome",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:25.251910+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHD2 was added\ngene: CHD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHD2 were set to Developmental delay, intellectual disability, epilepsy",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:25.127217+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHAT was added\ngene: CHAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHAT were set to Congenital myasthenic syndrome",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:24.946064+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFTR was added\ngene: CFTR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFTR were set to Cystic fibrosis",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:24.824278+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFP was added\ngene: CFP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CFP were set to Properdin deficiency, X-linked",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:24.645200+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFL2 was added\ngene: CFL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFL2 were set to Nemaline myopathy",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:24.523230+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFC1 was added\ngene: CFC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CFC1 were set to Congenital heart defects",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:24.342594+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP290 was added\ngene: CEP290 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP290 were set to Joubert syndrome",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:24.224350+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP152 was added\ngene: CEP152 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP152 were set to Seckel syndrome",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:24.046160+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDSN was added\ngene: CDSN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDSN were set to Hypotrichosis",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:23.921761+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDKN1C was added\ngene: CDKN1C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:23.742961+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDKL5 was added\ngene: CDKL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CDKL5 were set to Epileptic encephalopathy, early infantile, 2",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:23.549492+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Usher syndrome, type 1D for gene: CDH23",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:23.430840+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH23 was added\ngene: CDH23 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH23 were set to Deafness, autosomal recessive",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:23.249666+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDAN1 was added\ngene: CDAN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:23.134219+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD40LG was added\ngene: CD40LG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:22.958725+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC40 was added\ngene: CCDC40 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:22.834682+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC39 was added\ngene: CCDC39 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:22.655629+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CC2D2A was added\ngene: CC2D2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D2A were set to Joubert syndrome",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:22.539456+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CBS was added\ngene: CBS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:22.417440+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CBL was added\ngene: CBL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:22.230441+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Caveolinopathy for gene: CAV3",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:22.059648+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAV3 was added\ngene: CAV3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CAV3 were set to Muscular dystrophy, limb-girdle, type IC,",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:21.935240+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASQ2 was added\ngene: CASQ2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:21.752788+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASK was added\ngene: CASK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:21.631186+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAPN3 was added\ngene: CAPN3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:21.458407+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1F was added\ngene: CACNA1F was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (complete), 1A, X-linked",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:21.341457+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1A was added\ngene: CACNA1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1A were set to Episodic ataxia, type 2",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:21.154783+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CA2 was added\ngene: CA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:21.040531+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TWNK was added\ngene: TWNK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TWNK were set to Spinocerebellar ataxia infantile-onset",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:20.918717+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BTK was added\ngene: BTK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BTK were set to Agammaglobulinemia, X-linked 1",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:20.742461+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BTD was added\ngene: BTD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BTD were set to Biotinidase deficiency",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:20.623146+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BSND was added\ngene: BSND was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSND were set to Bartter syndrome with sensorineural deafness",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:20.443459+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BSCL2 was added\ngene: BSCL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSCL2 were set to Berardinelli-Seip lipodystrophy",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:20.323219+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRCA2 was added\ngene: BRCA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:20.148306+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRAF was added\ngene: BRAF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:20.032913+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMPR1A was added\ngene: BMPR1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BMPR1A were set to Juvenile polyposis syndrome",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:19.848925+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLM were set to Bloom syndrome",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:19.736449+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BIN1 was added\ngene: BIN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:19.561871+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BICD2 was added\ngene: BICD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BICD2 were set to Congenital spinal muscular atrophy",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:19.438190+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCS1L was added\ngene: BCS1L was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCS1L were set to Complex 3 deficiency",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:19.322002+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCKDHB was added\ngene: BCKDHB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHB were set to Maple syrup urine disease",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:19.148258+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCKDHA was added\ngene: BCKDHA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHA were set to Maple syrup urine disease",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:19.033628+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS9 was added\ngene: BBS9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS9 were set to Bardet-Biedl syndrome",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:18.858050+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS7 was added\ngene: BBS7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS7 were set to Bardet-Biedl syndrome",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:18.741535+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS5 was added\ngene: BBS5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS5 were set to Bardet-Biedl syndrome",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:18.624615+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS4 was added\ngene: BBS4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS4 were set to Bardet-Biedl syndrome",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:18.449242+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS2 was added\ngene: BBS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS2 were set to Bardet-Biedl syndrome",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:18.336304+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS12 was added\ngene: BBS12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS12 were set to Bardet-Biedl syndrome",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:18.217443+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS10 was added\ngene: BBS10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS10 were set to Bardet-Biedl syndrome",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:18.050280+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS1 was added\ngene: BBS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS1 were set to Bardet-Biedl syndrome",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:17.929772+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BAAT was added\ngene: BAAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BAAT were set to Bile acid amidation defect",
"entity_name": "BAAT",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:17.753741+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GLCT was added\ngene: B3GLCT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GLCT were set to Peters-Plus syndrome",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:17.639906+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AVPR2 was added\ngene: AVPR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:17.523076+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AUH was added\ngene: AUH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:17.351898+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATRX was added\ngene: ATRX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:17.236020+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP8B1 was added\ngene: ATP8B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:17.121919+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP7B was added\ngene: ATP7B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP7B were set to Wilson disease",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:16.941778+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Occipital horn syndrome for gene: ATP7A",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:16.826950+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP7A was added\ngene: ATP7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATP7A were set to Menkes syndrome",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:16.654454+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V1B1 was added\ngene: ATP6V1B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis & hearing loss",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:16.538990+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V0A2 was added\ngene: ATP6V0A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:16.424292+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP2A1 was added\ngene: ATP2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP2A1 were set to Brody myopathy",
"entity_name": "ATP2A1",
"entity_type": "gene"
}
]
}