HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=756",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=754",
"results": [
{
"created": "2022-09-19T07:32:03.205458+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYLS1 was added\ngene: HYLS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HYLS1 were set to Hydrolethalus syndrome",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:32:02.704104+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYDIN was added\ngene: HYDIN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HYDIN were set to Primary ciliary dyskinesia",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:32:01.964436+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS6 was added\ngene: HPS6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:32:01.106709+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to HPD.\nSource BabySeq Category C gene was added to HPD.\nMode of inheritance for gene HPD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Tyrosinemia, type III for gene: HPD\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:32:00.394573+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXA1 was added\ngene: HOXA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:59.812164+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOMEZ was added\ngene: HOMEZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HOMEZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HOMEZ were set to Congenital heart disease",
"entity_name": "HOMEZ",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:59.124113+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF1B was added\ngene: HNF1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:58.620537+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMBS was added\ngene: HMBS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HMBS were set to Porphyria, acute intermittent",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:57.720063+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to HK1.\nSource BabySeq Category C gene was added to HK1.\nMode of inheritance for gene HK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Hemolytic anemia due to hexokinase deficiency for gene: HK1\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:57.235975+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIBCH was added\ngene: HIBCH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HIBCH were set to Neurodegeneration, progressive infantile",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:56.514328+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HFE2 was added\ngene: HFE2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE2 were set to Haemochromatosis",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:56.090124+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HFE was added\ngene: HFE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE were set to Hemochromatosis",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:55.105420+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to HESX1.\nSource BabySeq Category C gene was added to HESX1.\nMode of inheritance for gene HESX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Pituitary hypoplasia for gene: HESX1\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:54.615421+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HERC2 was added\ngene: HERC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HERC2 were set to Autism spectrum disorder",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:53.901862+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HCN4 was added\ngene: HCN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HCN4 were set to Brugada syndrome",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:53.417207+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HCCS was added\ngene: HCCS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HCCS were set to Microphthalmia",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:52.793710+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAS2 was added\ngene: HAS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HAS2 were set to Congenital heart disease",
"entity_name": "HAS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:52.300917+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HARS was added\ngene: HARS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HARS were set to Usher syndrome type 3B",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:51.809881+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAMP was added\ngene: HAMP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HAMP were set to Haemochromatosis",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:51.107876+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: H19 was added\ngene: H19 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene\nMode of inheritance for gene: H19 was set to Unknown\nPhenotypes for gene: H19 were set to Beckwith-Wiedemann Syndrome",
"entity_name": "H19",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:50.615780+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GYG1 was added\ngene: GYG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GYG1 were set to Glycogen storage disease XV",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:49.913922+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUCY2C was added\ngene: GUCY2C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GUCY2C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GUCY2C were set to Meconium ileus",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:49.500298+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTF2H5 was added\ngene: GTF2H5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GTF2H5 were set to Trichothiodystrophy",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:48.798947+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRIN2A was added\ngene: GRIN2A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GRIN2A were set to Epilepsy with neurodevelopmental defects",
"entity_name": "GRIN2A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:48.308620+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPX1 was added\ngene: GPX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPX1 were set to Hemolytic anemia due to glutathione peroxidase deficiency",
"entity_name": "GPX1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:47.888744+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPHN was added\ngene: GPHN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPHN were set to Hyperekplexia",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:47.193110+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPC6 was added\ngene: GPC6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPC6 were set to Omodysplasia",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:46.698703+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPC4 was added\ngene: GPC4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPC4 were set to Simpson-Golabi-Behmel syndrome",
"entity_name": "GPC4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:45.999227+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GMPPA was added\ngene: GMPPA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GMPPA were set to Congenital disorder of glycosylation",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:45.497840+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLUL was added\ngene: GLUL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLUL were set to Congenital brain dysgenesis due to glutamine synthetase deficiency",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:44.523633+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to GLRB.\nSource BabySeq Category C gene was added to GLRB.\nAdded phenotypes Hyperekplexia 2, autosomal recessive for gene: GLRB\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "GLRB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:43.610317+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to GLIS3.\nSource BabySeq Category C gene was added to GLIS3.\nAdded phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism for gene: GLIS3\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:43.101463+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLI2 was added\ngene: GLI2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLI2 were set to Holoprosencephaly-9",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:42.610455+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLE1 was added\ngene: GLE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLE1 were set to Lethal arthrogryposis with anterior horn cell disease",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:41.913201+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFER was added\ngene: GFER was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay",
"entity_name": "GFER",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:41.500170+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDNF was added\ngene: GDNF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GDNF were set to Hirschsprung disease; Central hypoventilation syndrome",
"entity_name": "GDNF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:40.799229+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF1 was added\ngene: GDF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GDF1 were set to Congenital heart defects",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:40.312652+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCSH was added\ngene: GCSH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCSH were set to Glycine encephalopathy",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:39.607704+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCLC was added\ngene: GCLC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency",
"entity_name": "GCLC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:39.192761+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBE1 was added\ngene: GBE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form; Glycogen storage disease IV",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:38.702963+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATAD1 was added\ngene: GATAD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GATAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GATAD1 were set to Cardiomyopathy, dilated, 2B",
"entity_name": "GATAD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:38.012804+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA6 was added\ngene: GATA6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GATA6 were set to Atrial fibrillation",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:37.523550+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA5 was added\ngene: GATA5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GATA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GATA5 were set to Familial atrial fibrillation",
"entity_name": "GATA5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:36.624919+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to GATA1.\nSource BabySeq Category A gene was added to GATA1.\nSource BabySeq Category C gene was added to GATA1.\nAdded phenotypes Dyserythropoietic anemia with thrombocytopenia; Porphyria, congenital erythropoietic for gene: GATA1\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:36.110959+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABRA1 was added\ngene: GABRA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GABRA1 were set to Epilepsy, idiopathic generalised",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:35.402412+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FTCD was added\ngene: FTCD was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:34.907109+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FSCN2 was added\ngene: FSCN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FSCN2 were set to Retinitis pigmentosa",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:34.211559+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FREM2 was added\ngene: FREM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FREM2 were set to Fraser syndrome",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:33.790000+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FREM1 was added\ngene: FREM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FREM1 were set to Manitoba oculotrichoanal syndrome",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:32.822106+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to FOXN1.\nSource BabySeq Category C gene was added to FOXN1.\nMode of inheritance for gene FOXN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Congenital alopecia with T-cell immunodeficiency for gene: FOXN1\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:32.315808+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXH1 was added\ngene: FOXH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FOXH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXH1 were set to Congenital heart defects",
"entity_name": "FOXH1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:31.687637+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXF2 was added\ngene: FOXF2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FOXF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXF2 were set to Disorders of sex development with cleft palate",
"entity_name": "FOXF2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:31.116038+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXE1 was added\ngene: FOXE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOXE1 were set to Bamforth-Lazarus syndrome",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:30.490746+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FMO3 was added\ngene: FMO3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FMO3 were set to Trimethylaminuria",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:30.016825+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLNC was added\ngene: FLNC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FLNC were set to Myofibrillar myopathy",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:29.517990+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLG was added\ngene: FLG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FLG were set to Ichthyosis vulgaris",
"entity_name": "FLG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:28.746549+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FKBPL was added\ngene: FKBPL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FKBPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FKBPL were set to Infertility",
"entity_name": "FKBPL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:28.206917+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FHL2 was added\ngene: FHL2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FHL2 were set to Cardiomyopathy, hypertrophic",
"entity_name": "FHL2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:27.502982+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FHL1 was added\ngene: FHL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene\nMode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FHL1 were set to Myofibrillar myopathy; Emery-Dreifuss muscular dystrophy",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:27.009276+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBLN5 was added\ngene: FBLN5 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene\nMode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FBLN5 were set to Age-related macular degeneration; Cutis laxa",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:26.505532+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCM was added\ngene: FANCM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCM were set to Fanconi anaemia",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:25.597479+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to FANCL.\nSource BabySeq Category C gene was added to FANCL.\nAdded phenotypes Fanconi anaemia for gene: FANCL\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:24.646133+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to FANCF.\nSource BabySeq Category C gene was added to FANCF.\nAdded phenotypes Fanconi anaemia for gene: FANCF\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:23.704502+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to FANCE.\nSource BabySeq Category C gene was added to FANCE.\nAdded phenotypes Fanconi anaemia for gene: FANCE\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:23.219435+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM111B was added\ngene: FAM111B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FAM111B were set to Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:22.783805+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAAH2 was added\ngene: FAAH2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: FAAH2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FAAH2 were set to Autism spectrum disorder",
"entity_name": "FAAH2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:21.812386+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 F13B.\nSource Expert Review Red was added to F13B.\nAdded phenotypes Factor XIIIB deficiency MIM# 613235 for gene: F13B\nPublications for gene F13B were updated from to PMID: 31013569\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:20.900436+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to ERCC4.\nSource BabySeq Category C gene was added to ERCC4.\nAdded phenotypes Xeroderma pigmentosum for gene: ERCC4\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:20.399489+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC3 was added\ngene: ERCC3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC3 were set to Xeroderma pigmentosum",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:19.704440+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC1 was added\ngene: ERCC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC1 were set to Xeroderma pigmentosum",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:19.216569+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERBB3 was added\ngene: ERBB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:18.800118+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPHX1 was added\ngene: EPHX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: EPHX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPHX1 were set to Hypercholanemia, familial",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:18.107822+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPCAM was added\ngene: EPCAM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EPCAM were set to Lynch syndrome",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:17.692744+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPB42 was added\ngene: EPB42 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: EPB42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EPB42 were set to Spherocytosis",
"entity_name": "EPB42",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:16.999868+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2B1 was added\ngene: EIF2B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:16.511522+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFHC1 was added\ngene: EFHC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene\nMode of inheritance for gene: EFHC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EFHC1 were set to 33181902; 28370826; 33969125; 29750216; 31056551\nPhenotypes for gene: EFHC1 were set to {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; {Epilepsy, juvenile absence, susceptibility to, 1}, 607631",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:16.096864+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFEMP2 was added\ngene: EFEMP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:15.389890+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ECE1 was added\ngene: ECE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ECE1 were set to Hirschsprung disease",
"entity_name": "ECE1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:14.906179+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DTNBP1 was added\ngene: DTNBP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:14.289922+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DTNA was added\ngene: DTNA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DTNA were set to Left ventricular noncompaction 1",
"entity_name": "DTNA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:13.807122+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DTHD1 was added\ngene: DTHD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DTHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DTHD1 were set to Leber congenital amaurosis with myopathy",
"entity_name": "DTHD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:13.114262+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPYD was added\ngene: DPYD was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:12.697452+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPP6 was added\ngene: DPP6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DPP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DPP6 were set to Ventricular fibrillation, paroxysmal familial, 2",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:12.197964+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPM1 was added\ngene: DPM1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:11.502089+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAL1 was added\ngene: DNAL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAL1 were set to Primary ciliary dyskinesia",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:11.012707+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC5 was added\ngene: DNAJC5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DNAJC5 were set to Neuronal ceroid lipofuscinosis, adult-onset",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:10.315760+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC19 was added\ngene: DNAJC19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:09.921292+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAI2 was added\ngene: DNAI2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAI2 were set to Primary ciliary dyskinesia",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:09.419091+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF5 was added\ngene: DNAAF5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF5 were set to Primary ciliary dyskinesia",
"entity_name": "DNAAF5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:08.797307+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF3 was added\ngene: DNAAF3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF3 were set to Primary ciliary dyskinesia",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:08.317478+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF2 was added\ngene: DNAAF2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAAF2 were set to Primary ciliary dyskinesia",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:07.626418+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLC1 was added\ngene: DLC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DLC1 were set to Congenital heart disease",
"entity_name": "DLC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:07.197788+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DIABLO was added\ngene: DIABLO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DIABLO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DIABLO were set to Deafness, autosomal dominant",
"entity_name": "DIABLO",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:06.730294+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHCR24 was added\ngene: DHCR24 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR24 were set to Desmosterolosis",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:06.017347+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DGKE was added\ngene: DGKE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGKE were set to Haemolytic uraemic syndrome, atypical",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:05.505849+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DECR1 was added\ngene: DECR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DECR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DECR1 were set to 2,4-Dienoyl-CoA reductase deficiency",
"entity_name": "DECR1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:04.818310+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDR2 was added\ngene: DDR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type",
"entity_name": "DDR2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:04.388623+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDOST was added\ngene: DDOST was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDOST were set to Congenital disorder of glycosylation, type Ir",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:03.899809+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDHD1 was added\ngene: DDHD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDHD1 were set to Spastic paraplegia",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:03.198886+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCTN1 was added\ngene: DCTN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DCTN1 were set to Amyotrophic lateral sclerosis",
"entity_name": "DCTN1",
"entity_type": "gene"
}
]
}