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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=760",
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"results": [
{
"created": "2022-09-19T07:28:19.293723+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A11 was added\ngene: SLC4A11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:18.916574+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A1 was added\ngene: SLC4A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC4A1 were set to Spherocytosis",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:18.400781+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC46A1 was added\ngene: SLC46A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM#",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:18.016210+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC45A2 was added\ngene: SLC45A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC45A2 were set to Oculocutaneous albinism, type IV",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:17.700646+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC3A1 was added\ngene: SLC3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC3A1 were set to Cystinuria",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:17.311989+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC39A8 was added\ngene: SLC39A8 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:16.799825+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC39A4 was added\ngene: SLC39A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:16.490833+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC37A4 was added\ngene: SLC37A4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, MIM#232220",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:16.103303+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC35D1 was added\ngene: SLC35D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:15.503425+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC34A3 was added\ngene: SLC34A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:15.191483+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC34A2 was added\ngene: SLC34A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC34A2 were set to Pulmonary alveolar microlithiasis",
"entity_name": "SLC34A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:14.807970+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC2A10 was added\ngene: SLC2A10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:14.498980+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC2A1 was added\ngene: SLC2A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 2, childhood onset, 612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:13.907544+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC27A4 was added\ngene: SLC27A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:13.595852+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC26A4 was added\ngene: SLC26A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A4 were set to Pendred syndrome",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:13.212977+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC26A3 was added\ngene: SLC26A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:12.694664+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC26A2 was added\ngene: SLC26A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A2 were set to Achondrogenesis 1B",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:12.317266+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A4 was added\ngene: SLC25A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC25A4 were set to Progressive external ophthalmoplegia",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:11.998509+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A38 was added\ngene: SLC25A38 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:11.413291+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A20 was added\ngene: SLC25A20 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency, MIM#212138",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:11.010396+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A15 was added\ngene: SLC25A15 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:10.621089+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A13 was added\ngene: SLC25A13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A13 were set to Citrullinemia, MIM#605814",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:10.299808+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A1 was added\ngene: SLC25A1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:09.711155+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC22A5 was added\ngene: SLC22A5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM#212140",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:09.394685+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC19A3 was added\ngene: SLC19A3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A3 were set to Basal ganglia disease, biotin-responsive, MIM#607483",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:09.004043+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC19A2 was added\ngene: SLC19A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:08.426123+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC18A3 was added\ngene: SLC18A3 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, MIM#\t617239",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:08.099617+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC18A2 was added\ngene: SLC18A2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# \t618049",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:07.725218+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC17A5 was added\ngene: SLC17A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:07.416697+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC16A2 was added\ngene: SLC16A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:06.813318+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC16A1 was added\ngene: SLC16A1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SLC16A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC16A1 were set to Hyperinsulinemic hypoglycemia, familial, 7, MIM#\t610021",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:06.494612+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC12A6 was added\ngene: SLC12A6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:06.113302+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC12A3 was added\ngene: SLC12A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A3 were set to Gitelman syndrome",
"entity_name": "SLC12A3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:05.597084+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC12A1 was added\ngene: SLC12A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A1 were set to Bartter syndrome",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:05.211820+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SKI was added\ngene: SKI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:04.898750+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIX3 was added\ngene: SIX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SIX3 were set to Holoprosencephaly-2",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:04.309608+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIX1 was added\ngene: SIX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SIX1 were set to Branchiootorenal syndrome",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:03.995571+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIL1 was added\ngene: SIL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:03.614425+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SI was added\ngene: SI was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, MIM#\t222900",
"entity_name": "SI",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:03.302312+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHH was added\ngene: SHH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SHH were set to Holoprosencephaly-3",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:02.708654+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHANK3 was added\ngene: SHANK3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SHANK3 were set to 17173049; 30842224; 16284256; 20186804; 22892527\nPhenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:02.313808+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH3TC2 was added\ngene: SH3TC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease",
"entity_name": "SH3TC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:02.000316+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH2D1A was added\ngene: SH2D1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, MIM#308240",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:01.192900+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGSH was added\ngene: SGSH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A)",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:00.809021+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCG was added\ngene: SGCG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:00.491662+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCD was added\ngene: SGCD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:00.049259+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCB was added\ngene: SGCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:59.505434+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCA was added\ngene: SGCA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:59.196468+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SFTPC was added\ngene: SFTPC was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SFTPC were set to Interstitial lung disease; Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620",
"entity_name": "SFTPC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:58.815138+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SFTPB was added\ngene: SFTPB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary",
"entity_name": "SFTPB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:58.296778+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SETX was added\ngene: SETX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SETX were set to Ataxia-ocular apraxia 2",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:57.911169+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SETBP1 was added\ngene: SETBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SETBP1 were set to Schinzel-Giedion syndrome",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:57.595972+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINA1 was added\ngene: SERPINA1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINA1 were set to Emphysema due to AAT deficiency, OMIM #107400; Antitrypsin alpha 1 deficiency",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:57.208658+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SELENON was added\ngene: SELENON was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine; Myopathy, congenital, with fiber-type disproportion",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:56.693351+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SDHD was added\ngene: SDHD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:56.313722+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCO2 was added\ngene: SCO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:56.011186+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1G was added\ngene: SCNN1G was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I, MIM#\t264350",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:55.491356+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1B was added\ngene: SCNN1B was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I MIM# 264350",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:55.104022+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1A was added\ngene: SCNN1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, MIM#264350",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:54.794975+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN8A was added\ngene: SCN8A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN8A were set to Developmental and epileptic encephalopathy 13, MIM#614558",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:54.488772+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN5A was added\ngene: SCN5A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SCN5A were set to Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Long QT syndrome 3 (MIM#603830); Heart block, progressive, type IA, MIM# 113900",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:53.905210+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN4A was added\ngene: SCN4A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SCN4A were set to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Paramyotonia congenita , MIM#168300; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Myasthenic syndrome, congenital, 16, MIM# 614198; Hypokalemic periodic paralysis, type 2, MIM# 613345",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:53.596884+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN3A was added\ngene: SCN3A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN3A were set to Developmental and epileptic encephalopathy 62, MIM#\t617938",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:53.288604+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN2A was added\ngene: SCN2A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11, MIM#\t613721",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:52.914600+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN1A was added\ngene: SCN1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN1A were set to Dravet syndrome, MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet\t, MIM#619317",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:52.405461+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN11A was added\ngene: SCN11A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN11A were set to Episodic pain syndrome",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:52.088569+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SBDS was added\ngene: SBDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SBDS were set to Shwachman-Bodian-Diamond syndrome",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:51.728535+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMHD1 was added\ngene: SAMHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:51.396343+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SALL1 was added\ngene: SALL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SALL1 were set to Townes-Brocks syndrome",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:50.805212+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SACS was added\ngene: SACS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:50.504611+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RYR2 was added\ngene: RYR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2; Ventricular tachycardia, catecholaminergic polymorphic",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:50.192534+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,BabySeq Category B gene,BabySeq Category C gene,Expert Review Green\nMode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RYR1 were set to Malignant hyperthermia, multiminicore disease MIM#180901",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:49.597753+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RUNX2 was added\ngene: RUNX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RUNX2 were set to Cleidocranial dysostosis",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:49.230610+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPH9 was added\ngene: RSPH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:48.910279+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPH4A was added\ngene: RSPH4A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:48.606009+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RS1 was added\ngene: RS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RS1 were set to Retinoschisis, X linked",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:48.096675+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRM2B was added\ngene: RRM2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:47.719143+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS6KA3 was added\ngene: RPS6KA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:47.436374+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS7 was added\ngene: RPS7 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS7 were set to Diamond-Blackfan anaemia 8, MIM#\t612563",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:47.104851+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS29 was added\ngene: RPS29 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS29 were set to Diamond-Blackfan anaemia 13, MIM#\t615909",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:46.511169+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS28 was added\ngene: RPS28 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS28 were set to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM#\t606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:46.203033+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS27 was added\ngene: RPS27 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS27 were set to Diamond-Blackfan anaemia 17, MIM# \t617409",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:45.895635+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS26 was added\ngene: RPS26 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS26 were set to Diamond-Blackfan anaemia, MM#613309",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:45.313945+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS24 was added\ngene: RPS24 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS24 were set to Diamond-Blackfan anaemia, MIM#610629",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:45.007204+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS19 was added\ngene: RPS19 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS19 were set to Diamond-Blackfan anaemia, MIM#105650",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:44.697608+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS17 was added\ngene: RPS17 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS17 were set to Diamond-Blackfan anaemia, MIM#612527",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:44.393833+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS15A was added\ngene: RPS15A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS15A were set to Diamond-Blackfan anaemia 20, MIM# \t618313",
"entity_name": "RPS15A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:43.812870+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS15 was added\ngene: RPS15 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS15 were set to Diamond-Blackfan anemia",
"entity_name": "RPS15",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:43.511375+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS10 was added\ngene: RPS10 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS10 were set to Diamond-Blackfan anaemia 9, MIM#\t613308",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:43.219163+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL5 was added\ngene: RPL5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL5 were set to Diamond-Blackfan anaemia, MIM#612561",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:42.910119+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL35A was added\ngene: RPL35A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL35A were set to Diamond-Blackfan anaemia 5, MIM#\t612528",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:42.397268+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL35 was added\ngene: RPL35 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL35 were set to Diamond-Blackfan anaemia 19 , MIM#\t618312",
"entity_name": "RPL35",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:42.025059+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL27 was added\ngene: RPL27 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RPL27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL27 were set to Diamond-Blackfan anaemia 16 , MIM#\t617408",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:41.713336+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL26 was added\ngene: RPL26 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL26 were set to Diamond-Blackfan anaemia 11 , MIM#\t614900",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:41.393851+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL18 was added\ngene: RPL18 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL18 were set to Diamond-Blackfan anaemia 18 , MIM#\t618310",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:40.809795+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL15 was added\ngene: RPL15 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL15 were set to Diamond-Blackfan anaemia 12 , MIM#\t615550",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:40.504041+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL11 was added\ngene: RPL11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL11 were set to Diamond-Blackfan anaemia, MIM#612562",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:40.187649+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPGRIP1L was added\ngene: RPGRIP1L was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1L were set to Joubert syndrome; Meckel syndrome",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:39.809716+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPGR was added\ngene: RPGR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPGR were set to Retinitis pigmentosa",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:39.305413+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROR2 was added\ngene: ROR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ROR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ROR2 were set to Robinow syndrome; Brachydactyly, type B1",
"entity_name": "ROR2",
"entity_type": "gene"
}
]
}