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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=768",
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"results": [
{
"created": "2022-09-19T07:24:38.907727+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V0A2 was added\ngene: ATP6V0A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:38.803698+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP2B2 was added\ngene: ATP2B2 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATP2B2 were set to Deafness, childhood onset",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:38.698706+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP2A1 was added\ngene: ATP2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP2A1 were set to Brody myopathy",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:38.593614+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP1A2 was added\ngene: ATP1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATP1A2 were set to Hemiplegic migraine",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:38.488701+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATM was added\ngene: ATM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATM were set to Ataxia-telangiectasia",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:38.322049+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASS1 was added\ngene: ASS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASS1 were set to Citrullinemia, MIM#215700",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:38.214834+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASPA was added\ngene: ASPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASPA were set to Canavan disease",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:38.109047+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASL was added\ngene: ASL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASL were set to Argininosuccinic aciduria, MIM#207900",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:37.999486+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARX was added\ngene: ARX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARX were set to Lissencephaly, X-linked 2",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:37.896042+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSB was added\ngene: ARSB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy)",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:37.790136+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSA was added\ngene: ARSA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSA were set to Metachromatic leukodystrophy",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:37.620475+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARPC1B was added\ngene: ARPC1B was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:37.508399+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARMC4 was added\ngene: ARMC4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARMC4 were set to Primary ciliary dyskinesia",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:37.443286+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARID1B was added\ngene: ARID1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ARID1B were set to Coffin-Siris syndrome",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:37.309647+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARG1 was added\ngene: ARG1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARG1 were set to Arginase deficiency, MIM#207800",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:37.162266+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARFGEF2 was added\ngene: ARFGEF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:37.003088+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AR was added\ngene: AR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AR were set to Androgen insensitivity, MIM# 300068",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:36.850945+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APTX was added\ngene: APTX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:36.713462+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APRT was added\ngene: APRT was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency, MIM#\t614723",
"entity_name": "APRT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:36.600339+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AQP2 was added\ngene: AQP2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 2, MIM#125800",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:36.491328+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APOB was added\ngene: APOB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APOB were set to Apolipoprotein B deficiency",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:36.318011+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APC was added\ngene: APC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: APC were set to Adenomatous polyposis coli; Adenomatous polyposis coli, attenuated",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:36.212762+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP4M1 was added\ngene: AP4M1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4M1 were set to 31915823; 32979048; 19559397; 25496299; 21937992; 28464862; 29096665\nPhenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, MIM#\t612936",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:36.116353+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP4E1 was added\ngene: AP4E1 was added to gNBS. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4E1 were set to 20972249; 32979048; 23472171; 21620353; 21937992\nPhenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:36.000780+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP4B1 was added\ngene: AP4B1 was added to gNBS. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4B1 were set to 24700674; 32979048; 32166732; 32171285; 22290197; 21620353; 31525725; 24781758\nPhenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:35.898192+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP3B1 was added\ngene: AP3B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:35.789399+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANTXR2 was added\ngene: ANTXR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome",
"entity_name": "ANTXR2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:35.621708+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANO10 was added\ngene: ANO10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:35.518504+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKRD26 was added\ngene: ANKRD26 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANKRD26 were set to Thrombocytopenia 2",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:35.430394+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKH was added\ngene: ANKH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANKH were set to Craniometaphyseal dysplasia",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:35.299546+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANK2 was added\ngene: ANK2 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Green\nMode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANK2 were set to Complex neurodevelopmental disorder, MONDO:0100038",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:35.127133+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANK1 was added\ngene: ANK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANK1 were set to Spherocytosis",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:35.054086+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMT was added\ngene: AMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMT were set to Hyperglycinaemia, non-ketotic",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:34.901026+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMN was added\ngene: AMN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, MIM#618882",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:34.795569+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMELX was added\ngene: AMELX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AMELX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AMELX were set to Amelogenesis imperfecta",
"entity_name": "AMELX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:34.691090+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALX4 was added\ngene: ALX4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ALX4 were set to Parietal foramina 2",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:34.535703+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALS2 was added\ngene: ALS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALS2 were set to Amyotrophic lateral sclerosis",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:34.415648+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALPL was added\ngene: ALPL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALPL were set to Hypophosphatasia, MIM#241500",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:34.304513+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALOXE3 was added\ngene: ALOXE3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:34.202329+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALOX12B was added\ngene: ALOX12B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:34.099261+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALMS1 was added\ngene: ALMS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALMS1 were set to Alstrom syndrome",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:34.000380+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG9 was added\ngene: ALG9 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG9 were set to 26453364; 25966638; 28932688\nPhenotypes for gene: ALG9 were set to Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Congenital disorder of glycosylation, type Il, MIM#608776",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:33.889961+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG8 was added\ngene: ALG8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:33.731224+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG6 was added\ngene: ALG6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:33.622267+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG3 was added\ngene: ALG3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:33.520309+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG14 was added\ngene: ALG14 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG14 were set to Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:33.437344+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG12 was added\ngene: ALG12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:33.323221+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG1 was added\ngene: ALG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:33.214273+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDOB was added\ngene: ALDOB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOB were set to Fructose intolerance, MIM#229600",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:33.125753+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH7A1 was added\ngene: ALDH7A1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green\nMode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM#\t266100",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:33.009621+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH5A1 was added\ngene: ALDH5A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:32.901198+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH3A2 was added\ngene: ALDH3A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:32.796966+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH18A1 was added\ngene: ALDH18A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:32.691790+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALB was added\ngene: ALB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALB were set to Analbuminemia",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:32.591218+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALAS2 was added\ngene: ALAS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ALAS2 were set to Anemia, sideroblastic, X-linked",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:32.491336+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKR1D1 was added\ngene: AKR1D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:32.337993+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AK2 was added\ngene: AK2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AK2 were set to Reticular dysgenesis, MIM#\t267500",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:32.231307+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIRE was added\ngene: AIRE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:32.135868+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIFM1 was added\ngene: AIFM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AIFM1 were set to Cowchock syndrome",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:32.024977+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AHI1 was added\ngene: AHI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AHI1 were set to Joubert syndrome-3",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:31.912026+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AHCY was added\ngene: AHCY was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: AHCY was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#\t613752",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:31.815049+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGXT was added\ngene: AGXT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:31.711522+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGRN was added\ngene: AGRN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial, MIM#615120",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:31.611330+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGL was added\ngene: AGL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGL were set to Glycogen storage disease IIIa, MIM#232400",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:31.507351+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGA was added\ngene: AGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGA were set to Aspartylglucosaminuria",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:31.410759+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADK was added\ngene: ADK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADK were set to Hypermethioninemia due to adenosine kinase deficiency",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:31.313381+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADGRV1 was added\ngene: ADGRV1 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:31.208373+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADGRG1 was added\ngene: ADGRG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:31.106776+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ADAR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:31.009922+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTSL2 was added\ngene: ADAMTSL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:30.908834+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS13 was added\ngene: ADAMTS13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM#274150",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:30.796163+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADA was added\ngene: ADA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency, MIM#102700",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:30.690230+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACVRL1 was added\ngene: ACVRL1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:30.525605+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACVR1 was added\ngene: ACVR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva",
"entity_name": "ACVR1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:30.444018+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTN4 was added\ngene: ACTN4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACTN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTN4 were set to Glomerulosclerosis, focal segmental, 1",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:30.318655+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTN1 was added\ngene: ACTN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTN1 were set to Macrothrombocytopenia",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:30.223065+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTG2 was added\ngene: ACTG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTG2 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:30.129737+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTG1 was added\ngene: ACTG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome; Deafness, autosomal dominant",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:30.030124+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACOX1 was added\ngene: ACOX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:29.928362+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACE was added\ngene: ACE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACE were set to Renal tubular dysgenesis",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:29.824508+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAT1 was added\ngene: ACAT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, MIM#203750",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:29.788364+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADVL was added\ngene: ACADVL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADVL were set to VLCAD deficiency, MIM#201475",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:29.688627+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADM was added\ngene: ACADM was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADM were set to Medium chain acyl CoA dehydrogenase deficiency, MIM#201450",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:29.588602+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAD9 was added\ngene: ACAD9 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, MIM#611126",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:29.488384+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAD8 was added\ngene: ACAD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:29.388656+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCG5 was added\ngene: ABCG5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCG5 were set to Sitosterolemia",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:29.292063+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCD4 was added\ngene: ABCD4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCD4 were set to MAHCJ, MIM#614857; Methylmalonic aciduria and homocystinuria, cblJ TYPE",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:29.191914+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCD1 was added\ngene: ABCD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCD1 were set to Adrenoleukodystrophy",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:29.092334+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC8 was added\ngene: ABCC8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, MIM#256450",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:28.992532+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC6 was added\ngene: ABCC6 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, #MIM614473",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:28.889267+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC2 was added\ngene: ABCC2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: ABCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCC2 were set to 11477083; 30344695\nPhenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome, MIM# 237500",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:28.800677+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB4 was added\ngene: ABCB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:28.614307+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB11 was added\ngene: ABCB11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:28.518424+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCA4 was added\ngene: ABCA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA4 were set to Stargardt disease",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:28.434050+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCA3 was added\ngene: ABCA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:28.319712+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCA12 was added\ngene: ABCA12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:28.250695+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AARS was added\ngene: AARS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AARS were set to Charcot-Marie-Tooth disease",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:28.165404+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AAAS was added\ngene: AAAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:24:28.048193+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel gNBS",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-09-19T07:22:05.717137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GIF as ready",
"entity_name": "GIF",
"entity_type": "gene"
}
]
}