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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=766",
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"results": [
{
"created": "2022-09-19T07:25:13.822657+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EDA was added\ngene: EDA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:13.696533+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYSF was added\ngene: DYSF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYSF were set to Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, type 2B",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:13.504503+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DUOXA2 was added\ngene: DUOXA2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:13.319410+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DUOX2 was added\ngene: DUOX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:13.192079+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSP was added\ngene: DSP was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM#\t605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis\t, MIM#615821",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:13.009555+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPAGT1 was added\ngene: DPAGT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\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, MIM#614750",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:12.811331+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOLK was added\ngene: DOLK was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOLK were set to 30653653; 22242004; 23890587; 17273964; 28816422; 24144945\nPhenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, MIM# 610768; DK1-CDG, MONDO:0012556",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:08.515435+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOK7 was added\ngene: DOK7 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOK7 were set to Congenital myasthenic syndrome, MIM# 254300",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:08.311170+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOCK8 was added\ngene: DOCK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category A gene,BegniNGS\nMode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK8 were set to Hyper-IgE syndrome, MIM#243700",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:08.113138+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNMT3B was added\ngene: DNMT3B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:07.923134+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNM2 was added\ngene: DNM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:07.790003+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJB6 was added\ngene: DNAJB6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:07.592405+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAI1 was added\ngene: DNAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:07.409727+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH5 was added\ngene: DNAH5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:07.224376+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH11 was added\ngene: DNAH11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:07.028783+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF1 was added\ngene: DNAAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:06.898918+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMXL2 was added\ngene: DMXL2 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DMXL2 were set to Developmental and epileptic encephalopathy 81, MIM#618663",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:06.711809+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMPK was added\ngene: DMPK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:06.549875+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMP1 was added\ngene: DMP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:06.326361+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMD was added\ngene: DMD was added to gNBS. Sources: BeginNGS,Expert Review Green\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, MIM#\t310200",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:06.123525+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLL3 was added\ngene: DLL3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:05.989638+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLD was added\ngene: DLD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\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, MIM#246900",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:05.796580+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DKC1 was added\ngene: DKC1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, MIM#\t305000",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:05.607832+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DIAPH1 was added\ngene: DIAPH1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:05.409139+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:05.221572+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DGUOK was added\ngene: DGUOK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:05.091153+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DGAT1 was added\ngene: DGAT1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGAT1 were set to Diarrhea 7, protein-losing enteropathy type , MIM#\t615863",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:04.899024+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DFNB59 was added\ngene: DFNB59 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:04.731123+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DFNA5 was added\ngene: DFNA5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:04.544342+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDC was added\ngene: DDC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\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, MIM#608643",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:04.333718+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDB2 was added\ngene: DDB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:04.194056+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCX was added\ngene: DCX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C 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, MIM# 300067",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:04.000940+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCLRE1C was added\ngene: DCLRE1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\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, MIM#603554",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:03.820155+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DBT was added\ngene: DBT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DBT were set to Maple syrup urine disease, MIM#248600",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:03.616106+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: D2HGDH was added\ngene: D2HGDH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:03.494179+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP4F22 was added\ngene: CYP4F22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:03.305249+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP27B1 was added\ngene: CYP27B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:03.140554+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:02.931383+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP21A2 was added\ngene: CYP21A2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\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, MIM#201910",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:02.741352+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP17A1 was added\ngene: CYP17A1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated\t, MIM#202110",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:02.587629+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP11B2 was added\ngene: CYP11B2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, MIM#\t203400; Hypoaldosteronism, congenital, due to CMO II deficiency, MIM#\t610600",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:02.388655+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP11B1 was added\ngene: CYP11B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\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, MIM#202010",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:02.176858+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP11A1 was added\ngene: CYP11A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\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, MIM#613743",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:01.916979+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYBB was added\ngene: CYBB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\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, MIM#306400",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:01.766581+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYBA was added\ngene: CYBA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYBA were set to Chronic granulomatous disease, MIM#233690",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:01.393095+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CXCR4 was added\ngene: CXCR4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CXCR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CXCR4 were set to WHIM syndrome 1, MIM#\t193670",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:01.194855+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUL7 was added\ngene: CUL7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:01.000811+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUBN was added\ngene: CUBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CUBN were set to Megaloblastic anaemia-1, Finnish type, MIM#261100",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:00.806455+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSK was added\ngene: CTSK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:00.613229+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSD was added\ngene: CTSD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:00.488046+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTPS1 was added\ngene: CTPS1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTPS1 were set to Immunodeficiency 24, MIM#\t615897",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:00.298210+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTNS was added\ngene: CTNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:25:00.103480+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTC1 was added\ngene: CTC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:59.919440+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSTB was added\ngene: CSTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:59.804484+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSF3R was added\ngene: CSF3R was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CSF3R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CSF3R were set to Neutropenia, severe congenital, 7, autosomal recessive\t, MIM#617014; Neutrophilia, hereditary , MIM#\t162830",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:59.612712+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSF2RA was added\ngene: CSF2RA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CSF2RA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSF2RA were set to 25425184; 18955570; 20622029\nPhenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:59.435091+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRTAP was added\ngene: CRTAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:59.305558+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRLF1 was added\ngene: CRLF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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"
},
{
"created": "2022-09-19T07:24:59.123644+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CREBBP was added\ngene: CREBBP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:58.988794+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPT2 was added\ngene: CPT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:58.802321+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPT1A was added\ngene: CPT1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I deficiency, MIM#255120",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:58.618101+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPS1 was added\ngene: CPS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, MIM#237300",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:58.493737+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPOX was added\ngene: CPOX was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CPOX were set to Coproporphyria\t, MIM#121300",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:58.303446+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ9 was added\ngene: COQ9 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5\t, MIM#614654",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:58.188594+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ8B was added\ngene: COQ8B was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, MIM#\t615573",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:58.001049+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ8A was added\ngene: COQ8A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, MIM#\t612016",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:57.831353+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ7 was added\ngene: COQ7 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8, MIM# \t616733",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:57.699059+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ6 was added\ngene: COQ6 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, MIM#\t614650",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:57.512395+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ4 was added\ngene: COQ4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM#\t616276",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:57.325605+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ2 was added\ngene: COQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, MIM#\t607426",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:57.197199+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COLQ was added\ngene: COLQ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLQ were set to Congenital myasthenic syndrome, MIM#603034",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:57.022163+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL9A3 was added\ngene: COL9A3 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A3 were set to Stickler syndrome",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:56.890676+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL9A2 was added\ngene: COL9A2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A2 were set to Stickler syndrome, type V, MIM# 614284",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:56.703548+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL9A1 was added\ngene: COL9A1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:56.526649+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL7A1 was added\ngene: COL7A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:56.398213+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL6A3 was added\ngene: COL6A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:56.218197+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL6A2 was added\ngene: COL6A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:56.097924+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL6A1 was added\ngene: COL6A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:55.919179+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL5A2 was added\ngene: COL5A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:55.796522+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL5A1 was added\ngene: COL5A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:55.606568+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL4A5 was added\ngene: COL4A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:55.488740+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL4A4 was added\ngene: COL4A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:55.302595+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL4A3 was added\ngene: COL4A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:55.125117+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL3A1 was added\ngene: COL3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:55.004596+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL2A1 was added\ngene: COL2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:54.817112+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL1A2 was added\ngene: COL1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:54.699144+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL1A1 was added\ngene: COL1A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C 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": "2022-09-19T07:24:54.512772+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL17A1 was added\ngene: COL17A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:54.393834+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL13A1 was added\ngene: COL13A1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, MIM#\t616720",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:54.211408+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL11A2 was added\ngene: COL11A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:54.092224+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL11A1 was added\ngene: COL11A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:53.903952+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG5 was added\ngene: COG5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG5 were set to 32174980; 23228021; 31572517\nPhenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:53.791002+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COCH was added\ngene: COCH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: COCH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COCH were set to 21046548; 26256111; 9806553; 16151338; 28099493; 22931125; 18312449; 28116169; 28733840; 17561763; 18697796; 32562050; 29449721; 32939038; 22610276\nPhenotypes for gene: COCH were set to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:53.611502+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNGB3 was added\ngene: CNGB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:53.493437+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLRN1 was added\ngene: CLRN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:53.308992+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLPP was added\ngene: CLPP was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLPP were set to 25254289; 27087618; 27899912; 23541340\nPhenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:53.191875+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN8 was added\ngene: CLN8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:53.012398+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN6 was added\ngene: CLN6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:52.894762+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN5 was added\ngene: CLN5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:24:52.718303+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLN3 was added\ngene: CLN3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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"
}
]
}