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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=764",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=762",
"results": [
{
"created": "2022-09-19T07:26:00.707996+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRF6 was added\ngene: IRF6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: IRF6 were set to van der Woude syndrome MIM# 119300",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:00.495757+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRAK4 was added\ngene: IRAK4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IRAK4 were set to Immunodeficiency 67, MIM#\t607676",
"entity_name": "IRAK4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:00.209888+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQCB1 was added\ngene: IQCB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:59.914880+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INVS was added\ngene: INVS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INVS were set to Nephronophthisis 2",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:59.497481+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INSR was added\ngene: INSR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INSR were set to Leprechaunism",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:59.230066+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INS was added\ngene: INS was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green\nMode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: INS were set to Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:59.007608+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ILDR1 was added\ngene: ILDR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ILDR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ILDR1 were set to Deafness, autosomal recessive",
"entity_name": "ILDR1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:58.724049+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL7R was added\ngene: IL7R was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green\nMode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:58.505330+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL2RG was added\ngene: IL2RG was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, MIM#312863",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:58.291169+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL2RB was added\ngene: IL2RB was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity\t, MIM#618495",
"entity_name": "IL2RB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:58.010086+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL10RB was added\ngene: IL10RB was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM#\t612567",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:57.801182+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL10RA was added\ngene: IL10RA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL10RA were set to Inflammatory bowel disease, MIM#613148",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:57.322377+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKBKG was added\ngene: IKBKG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IKBKG were set to Incontinentia pigmenti 1",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:57.108769+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGSF1 was added\ngene: IGSF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IGSF1 were set to Central hypothyroidism and testicular enlargement",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:56.902221+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGLL1 was added\ngene: IGLL1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: IGLL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGLL1 were set to Agammaglobulinaemia 2, MIM#\t613500",
"entity_name": "IGLL1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:56.690852+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGHMBP2 was added\ngene: IGHMBP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:56.431403+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGHM was added\ngene: IGHM was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGHM were set to Agammaglobulinaemia 1, MIM#\t601495",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:56.202558+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDUA was added\ngene: IDUA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, MIM#607014",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:55.989899+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDS was added\ngene: IDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IDS were set to Mucopolysaccharidosis II",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:55.510221+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HTRA1 was added\ngene: HTRA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HTRA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HTRA1 were set to CARASIL syndrome",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:55.303205+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSPG2 was added\ngene: HSPG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:55.094639+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSPB8 was added\ngene: HSPB8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HSPB8 were set to Charcot-Marie-Tooth disease, axonal, type 2L",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:54.831553+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD3B7 was added\ngene: HSD3B7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD3B7 were set to 3 beta-hydroxysteroid dehydrogenase deficiency",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:54.611863+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD3B2 was added\ngene: HSD3B2 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green\nMode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:54.389923+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD17B4 was added\ngene: HSD17B4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:54.107655+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD17B3 was added\ngene: HSD17B3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia",
"entity_name": "HSD17B3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:53.901892+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD17B10 was added\ngene: HSD17B10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HSD17B10 were set to 17-beta-hydroxysteroid dehydrogenase X deficiency",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:53.493518+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HRAS were set to Costello syndrome",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:53.214534+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS5 was added\ngene: HPS5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:53.005962+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS4 was added\ngene: HPS4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:52.799788+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS3 was added\ngene: HPS3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:52.530179+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS1 was added\ngene: HPS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:52.314080+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPRT1 was added\ngene: HPRT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome 1",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:52.103108+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPD was added\ngene: HPD was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HPD were set to Hawkinsinuria\t, MIM#140350; Tyrosinaemia, type III\t276710",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:51.899302+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOMER2 was added\ngene: HOMER2 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HOMER2 were set to Autosomal dominant non syndromic deafness",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:51.422875+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF4A was added\ngene: HNF4A was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#\t616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:51.210362+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF1A was added\ngene: HNF1A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF1A were set to MODY, type III\t, MIM#600496",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:51.008757+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMGCL was added\ngene: HMGCL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria, MIM#246450",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:50.726197+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HLCS was added\ngene: HLCS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, MIM#253270",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:50.505495+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HK1 was added\ngene: HK1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HK1 were set to Haemolytic anaemia due to hexokinase deficiency\t, MIM#235700",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:50.296702+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HINT1 was added\ngene: HINT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HINT1 were set to Axonal neuropathy with neuromyotonia",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:50.022926+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HGSNAT was added\ngene: HGSNAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGSNAT were set to Mucopolysaccharidosis IIIC",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:49.809056+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HGF was added\ngene: HGF was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: HGF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGF were set to Deafness, autosomal recessive",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:49.599057+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HGD was added\ngene: HGD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGD were set to Alkaptonuria",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:49.396727+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEXB was added\ngene: HEXB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:48.888501+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEXA was added\ngene: HEXA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXA were set to Tay-Sachs disease",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:48.628049+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HESX1 was added\ngene: HESX1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HESX1 were set to Septooptic dysplasia, MIM#\t182230",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:48.441516+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HDAC8 was added\ngene: HDAC8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:48.199948+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HCFC1 was added\ngene: HCFC1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: HCFC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HCFC1 were set to Methylmalonic aciduria and homocysteinemia, cblX type, MIM#\t309541",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:47.916159+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBB was added\ngene: HBB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBB were set to Beta-thalassemia",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:47.713984+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBA2 was added\ngene: HBA2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBA2 were set to Thalassemia, alpha, MIM#604131",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:47.507582+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBA1 was added\ngene: HBA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBA1 were set to Thalassaemia alpha, MIM#604131",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:47.303316+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAX1 was added\ngene: HAX1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, MIM#\t610738",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:46.894060+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HARS2 was added\ngene: HARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HARS2 were set to Perrault syndrome; autosomal recessive sensorineural hearing loss",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:46.646334+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHB was added\ngene: HADHB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency, MIM#609015",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:46.410220+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHA was added\ngene: HADHA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency, MIM#609015; LCHAD deficiency, MIM#\t609016",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:46.118687+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADH was added\ngene: HADH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:45.913432+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GYS2 was added\ngene: GYS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GYS2 were set to Glycogen storage disease 0",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:45.693866+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUSB was added\ngene: GUSB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, MIM#253220",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:45.428400+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GSS was added\ngene: GSS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GSS were set to Glutathione synthetase deficiency",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:45.231492+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRXCR1 was added\ngene: GRXCR1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: GRXCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRXCR1 were set to 26445815; 20137778; 20137774; 26226137; 25802247; 26969326\nPhenotypes for gene: GRXCR1 were set to Deafness, autosomal recessive 25, MIM#\t613285",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:44.757434+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRHPR was added\ngene: GRHPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:44.562140+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRHL2 was added\ngene: GRHL2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GRHL2 were set to Autosomal dominant hearing loss, MIM# 608641",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:44.298218+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPSM2 was added\ngene: GPSM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:44.092133+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPR143 was added\ngene: GPR143 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPR143 were set to Ocular albinism, type I",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:43.835405+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPC3 was added\ngene: GPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:43.614901+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GOT2 was added\ngene: GOT2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GOT2 were set to Developmental and epileptic encephalopathy 82, MIM#\t618721",
"entity_name": "GOT2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:43.413771+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNS was added\ngene: GNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNS were set to Mucopolysaccharidosis IIId",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:43.201030+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNPTG was added\ngene: GNPTG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTG were set to Mucolipidosis III gamma",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:43.004839+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNPTAB was added\ngene: GNPTAB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTAB were set to Mucolipidosis II",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:42.588465+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNE was added\ngene: GNE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNE were set to Inclusion body myopathy",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:42.316025+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAS was added\ngene: GNAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GNAS was set to Unknown\nPhenotypes for gene: GNAS were set to Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:42.120130+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLUD1 was added\ngene: GLUD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLUD1 were set to Hyperinsulinism, MIM#606762",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:41.901348+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLRB was added\ngene: GLRB was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLRB were set to Hyperekplexia 2, MIM#\t614619",
"entity_name": "GLRB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:41.706496+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLRA1 was added\ngene: GLRA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive, MIM#149400",
"entity_name": "GLRA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:41.488639+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLIS3 was added\ngene: GLIS3 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#\t610199",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:41.231492+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLI3 was added\ngene: GLI3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:41.013074+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLDC was added\ngene: GLDC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLDC were set to Glycine encephalopathy",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:40.807445+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLB1 was added\ngene: GLB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLB1 were set to Gangliosidosis GM1",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:40.600130+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLA was added\ngene: GLA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GLA were set to Fabry disease",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:40.190094+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJC2 was added\ngene: GJC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GJC2 were set to Pelizaeus-Merzbacher-like disease",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:39.916459+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJB2 was added\ngene: GJB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GJB2 were set to Deafness and palmoplantar keratoderma; Deafness",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:39.732979+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJB1 was added\ngene: GJB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:39.517276+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJA1 was added\ngene: GJA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GJA1 were set to Oculodentodigital dysplasia",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:39.309763+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GIPC3 was added\ngene: GIPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GIPC3 were set to Hearing loss",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:39.029324+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert list was added to GIF.\nAdded phenotypes Intrinsic factor deficiency # 261000 for gene: GIF",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:38.799431+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GGCX was added\ngene: GGCX was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:38.592941+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFPT1 was added\ngene: GFPT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome, limb-girdle, MIM#610542",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:38.332246+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFM1 was added\ngene: GFM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:38.157529+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFAP was added\ngene: GFAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GFAP were set to Alexander disease",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:37.681871+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDAP1 was added\ngene: GDAP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:37.422047+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCK was added\ngene: GCK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial, MIM#602485",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:37.195949+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCH1 was added\ngene: GCH1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM#\t128230",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:36.990883+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCDH was added\ngene: GCDH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCDH were set to Glutaric aciduria, type I, MIM#231670",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:36.720823+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBA was added\ngene: GBA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBA were set to Gaucher disease 1",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:36.511343+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA4 was added\ngene: GATA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GATA4 were set to Congenital heart defects",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:36.304000+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA3 was added\ngene: GATA3 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:36.151854+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA2 was added\ngene: GATA2 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATA2 were set to PMID: 25397911, 30047422\nPhenotypes for gene: GATA2 were set to Immunodeficiency 21 MIM# 614172; Emberger syndrome MIM# 614038",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:35.881963+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA1 was added\ngene: GATA1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GATA1 were set to Blackfan-Diamond anaemia, ORPHA:124; Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#\t300835; Congenital erythropoietic porphyria, ORPHA:79277; Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM#\t300367",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:25:35.619443+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GAN was added\ngene: GAN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAN were set to Giant axonal neuropathy",
"entity_name": "GAN",
"entity_type": "gene"
}
]
}