HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=763",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=761",
"results": [
{
"created": "2022-09-19T07:26:29.902996+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MUT was added\ngene: MUT was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, MIM#\t251000",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:29.419362+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMADHC was added\ngene: MMADHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, MIM#277410",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:29.128004+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMACHC was added\ngene: MMACHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:28.899574+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMAB was added\ngene: MMAB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:28.600894+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMAA was added\ngene: MMAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, MIM#251100",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:28.308163+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MLYCD was added\ngene: MLYCD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:27.851919+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MLC1 was added\ngene: MLC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:27.601040+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MKS1 was added\ngene: MKS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKS1 were set to Meckel syndrome",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:27.288616+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MKKS was added\ngene: MKKS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKKS were set to Bardet-Biedl syndrome",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:26.998112+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MITF was added\ngene: MITF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MITF were set to Waardenburg syndrome",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:26.713150+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MGP was added\ngene: MGP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGP were set to Keutel syndrome",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:26.214785+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MGAT2 was added\ngene: MGAT2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MGAT2 were set to 22105986; 31420886; 11228641; 33044030; 8808595\nPhenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:25.988529+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFSD8 was added\ngene: MFSD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:25.705957+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFN2 was added\ngene: MFN2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:25.434729+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEN1 was added\ngene: MEN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MEN1 were set to Multiple endocrine neoplasia I",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:25.207165+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEGF10 was added\ngene: MEGF10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:24.908792+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEFV was added\ngene: MEFV was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEFV were set to Mediterranean fever, familial",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:24.423316+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED25 was added\ngene: MED25 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED25 were set to 25792360; 32816121\nPhenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:24.202574+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED12 was added\ngene: MED12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MED12 were set to Intellectual disability",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:23.921964+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MECP2 was added\ngene: MECP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MECP2 were set to Rett syndrome",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:23.701812+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCPH1 was added\ngene: MCPH1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:23.425554+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCOLN1 was added\ngene: MCOLN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCOLN1 were set to Mucolipidosis IV",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:23.208112+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCFD2 was added\ngene: MCFD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCFD2 were set to Factor V and Factor VIII deficiency, combined",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:22.717784+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCCC2 was added\ngene: MCCC2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM#\t210210",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:22.499184+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCCC1 was added\ngene: MCCC1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency, MIM#\t210200",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:22.209644+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MC2R was added\ngene: MC2R was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM#\t202200",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:21.993154+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MBTPS2 was added\ngene: MBTPS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MBTPS2 were set to Ichthyosis follicularis, alopecia & photophobia",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:21.704369+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MARVELD2 was added\ngene: MARVELD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MARVELD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MARVELD2 were set to Deafness, autosomal recessive",
"entity_name": "MARVELD2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:21.490021+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP2K2 was added\ngene: MAP2K2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:20.923004+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:20.693785+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAN2B1 was added\ngene: MAN2B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN2B1 were set to Mannosidosis, alpha",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:20.411322+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAGI2 was added\ngene: MAGI2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAGI2 were set to Infantile spasms",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:20.118876+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAFB was added\ngene: MAFB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:19.899482+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAD2L2 was added\ngene: MAD2L2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# \t617243",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:19.616846+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM#214500",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:19.126042+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LTBP4 was added\ngene: LTBP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:18.894137+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRTOMT was added\ngene: LRTOMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRTOMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRTOMT were set to Deafness, autosomal recessive",
"entity_name": "LRTOMT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:18.620212+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRSAM1 was added\ngene: LRSAM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRSAM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:18.390911+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRRC6 was added\ngene: LRRC6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRRC6 were set to Primary ciliary dyskinesia",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:18.106375+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRPPRC was added\ngene: LRPPRC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRPPRC were set to Leigh syndrome",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:17.887637+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP5 was added\ngene: LRP5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:17.401770+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP4 was added\ngene: LRP4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome; Myasthenic syndrome, congenital, 17 , MIM#616304",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:17.122166+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP2 was added\ngene: LRP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP2 were set to Donnai-Barrow syndrome",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:16.893329+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LOXHD1 was added\ngene: LOXHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:16.606438+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMX1B was added\ngene: LMX1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LMX1B were set to Nail patella syndrome",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:16.394395+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMOD3 was added\ngene: LMOD3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMOD3 were set to Nemaline myopathy",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:16.106455+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMBRD1 was added\ngene: LMBRD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, MIM#277380",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:15.814774+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LITAF was added\ngene: LITAF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:15.397814+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPA was added\ngene: LIPA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIPA were set to Wolman syndrome, MIM#278000",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:15.108305+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIG4 was added\ngene: LIG4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIG4 were set to Severe combined immunodeficiency with sensitivity to ionizing radiation",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:14.892218+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIFR was added\ngene: LIFR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:14.607501+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHX4 was added\ngene: LHX4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: LHX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4, MIM#\t262700",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:14.395085+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHX3 was added\ngene: LHX3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, MIM#221750",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:13.900007+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHFPL5 was added\ngene: LHFPL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LHFPL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHFPL5 were set to Deafness, autosomal recessive",
"entity_name": "LHFPL5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:13.625530+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LEPR was added\ngene: LEPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency",
"entity_name": "LEPR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:13.413719+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LDLR was added\ngene: LDLR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LDLR were set to Hypercholesterolemia",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:13.193050+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARS2 was added\ngene: LARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARS2 were set to Perrault syndrome",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:12.907472+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARGE1 was added\ngene: LARGE1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARGE1 were set to Walker-Warburg syndrome",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:12.708026+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMTOR2 was added\ngene: LAMTOR2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: LAMTOR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMTOR2 were set to Immunodeficiency due to defect in MAPBP-interacting protein, MIM#\t610798",
"entity_name": "LAMTOR2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:12.422649+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMP2 was added\ngene: LAMP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: LAMP2 were set to Danon disease",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:12.205910+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMC2 was added\ngene: LAMC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:11.919900+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB3 was added\ngene: LAMB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:11.501572+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB2 was added\ngene: LAMB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB2 were set to Pierson syndrome",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:11.203168+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA3 was added\ngene: LAMA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:10.915051+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA2 was added\ngene: LAMA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:10.697038+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: L1CAM was added\ngene: L1CAM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: L1CAM were set to X-linked hydrocephalus syndrome",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:10.431793+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT6A was added\ngene: KRT6A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT6A were set to Pachyonychia congenita",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:10.191197+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT5 was added\ngene: KRT5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:09.705452+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT17 was added\ngene: KRT17 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT17 were set to Pachyonychia congenita",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:09.420099+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT16 was added\ngene: KRT16 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT16 were set to Pachyonychia congenita",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:09.202509+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT14 was added\ngene: KRT14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:08.923209+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRAS was added\ngene: KRAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRAS were set to Noonan syndrome",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:08.708939+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT2D was added\ngene: KMT2D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KMT2D were set to Kabuki syndrome 1",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:08.513837+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL41 was added\ngene: KLHL41 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL41 were set to Nemaline myopathy",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:08.208086+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL40 was added\ngene: KLHL40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL40 were set to Nemaline myopathy",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:07.992792+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLF1 was added\ngene: KLF1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLF1 were set to 33339573; 32815883; 32032242; 21055716; 32221653; 31818881\nPhenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:07.503965+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIT was added\ngene: KIT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIT were set to Piebaldism",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:07.228686+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF21A was added\ngene: KIF21A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:06.997546+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM6A was added\ngene: KDM6A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: KDM6A were set to Kabuki syndrome 2",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:06.723502+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCTD7 was added\ngene: KCTD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:06.500659+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNT1 was added\ngene: KCNT1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNT1 were set to Developmental and epileptic encephalopathy 14, MIM#\t614959",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:06.216597+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ4 was added\ngene: KCNQ4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KCNQ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNQ4 were set to Deafness, autosomal dominant",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:05.789890+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ2 was added\ngene: KCNQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNQ2 were set to Seizures, benign neonatal, 1, MIM#\t121200; Developmental and epileptic encephalopathy 7, MIM#\t613720",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:05.509288+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ1 was added\ngene: KCNQ1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: KCNQ1 were set to Short QT syndrome 2, MIM#\t609621; Long QT syndrome 1, MIM#\t192500; Jervell and Lange-Nielsen syndrome, MIM#\t220400",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:05.293872+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ2 was added\ngene: KCNJ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ2 were set to Andersen cardiodysrhythmic periodic paralysis",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:05.008172+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ11 was added\ngene: KCNJ11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, MIM#601820",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:04.788789+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ1 was added\ngene: KCNJ1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ1 were set to Bartter syndrome",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:04.517015+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNA1 was added\ngene: KCNA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNA1 were set to Episodic ataxia type 1",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:04.288675+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KBTBD13 was added\ngene: KBTBD13 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KBTBD13 were set to Nemaline myopathy",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:03.795154+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KAT6B was added\ngene: KAT6B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KAT6B were set to Genitopatellar syndrome",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:03.515555+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KARS was added\ngene: KARS was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KARS were set to 30737337; 30715177; 31116475\nPhenotypes for gene: KARS were set to deafness with progressive leukodystrophy",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:03.296625+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KANSL1 was added\ngene: KANSL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:03.017173+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAK3 was added\ngene: JAK3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, MIM#600802",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:02.799960+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAG1 was added\ngene: JAG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: JAG1 were set to Alagille syndrome",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:02.525593+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IYD was added\ngene: IYD was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IYD were set to 18765512; 30240412; 18434651\nPhenotypes for gene: IYD were set to Thyroid dyshormonogenesis 4, MIM# 274800",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:02.289776+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IVD was added\ngene: IVD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IVD were set to Isovaleric acidemia, MIM#243500",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:01.997136+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGB4 was added\ngene: ITGB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:01.502979+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGB2 was added\ngene: ITGB2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, MIM#\t116920",
"entity_name": "ITGB2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:01.218064+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGA3 was added\ngene: ITGA3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:00.992998+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ISPD was added\ngene: ISPD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7",
"entity_name": "ISPD",
"entity_type": "gene"
}
]
}