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{
"count": 221292,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1652",
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"results": [
{
"created": "2020-08-27T20:02:16.253007+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP1A2 was added\ngene: ATP1A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:16.138669+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATM was added\ngene: ATM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:16.023665+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASS1 was added\ngene: ASS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASS1 were set to Citrullinemia",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:15.851520+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASPA was added\ngene: ASPA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:15.740559+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASL was added\ngene: ASL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASL were set to Argininosuccinic aciduria",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:15.629365+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARX was added\ngene: ARX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:15.448980+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSB was added\ngene: ARSB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:15.325905+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSA was added\ngene: ARSA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:15.153264+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARMC4 was added\ngene: ARMC4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:15.065352+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARID1B was added\ngene: ARID1B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:14.923085+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARG1 was added\ngene: ARG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARG1 were set to Arginase deficiency",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:14.750896+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARFGEF2 was added\ngene: ARFGEF2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:14.638501+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AR was added\ngene: AR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A 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",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:14.525481+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APTX was added\ngene: APTX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:14.354373+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APOB was added\ngene: APOB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:14.237154+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Adenomatous polyposis coli, attenuated for gene: APC",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:14.125607+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APC was added\ngene: APC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:13.953639+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP3B1 was added\ngene: AP3B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:13.844394+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANTXR2 was added\ngene: ANTXR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:13.732607+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANO5 was added\ngene: ANO5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, type 2L",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:13.618700+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANO10 was added\ngene: ANO10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:13.449925+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKRD26 was added\ngene: ANKRD26 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:13.337628+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKH was added\ngene: ANKH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:13.224194+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANK1 was added\ngene: ANK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:13.058594+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMT was added\ngene: AMT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:12.944768+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMN was added\ngene: AMN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:12.840686+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMELX was added\ngene: AMELX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:12.723130+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALX4 was added\ngene: ALX4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:12.560713+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALS2 was added\ngene: ALS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:12.446357+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALPL was added\ngene: ALPL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALPL were set to Hypophosphatasia",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:12.335933+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALOXE3 was added\ngene: ALOXE3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:12.225352+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALOX12B was added\ngene: ALOX12B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:12.059293+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALMS1 was added\ngene: ALMS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:11.948733+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG8 was added\ngene: ALG8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:11.837333+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG6 was added\ngene: ALG6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:11.723088+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG3 was added\ngene: ALG3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:11.553446+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG12 was added\ngene: ALG12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:11.446092+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG1 was added\ngene: ALG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:11.337421+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDOB was added\ngene: ALDOB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOB were set to Fructose intolerance",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:11.224874+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH5A1 was added\ngene: ALDH5A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:11.063613+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH3A2 was added\ngene: ALDH3A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:10.947559+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH18A1 was added\ngene: ALDH18A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:10.840238+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALB was added\ngene: ALB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:10.731737+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALAS2 was added\ngene: ALAS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:10.619297+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKR1D1 was added\ngene: AKR1D1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:10.452695+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIRE was added\ngene: AIRE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:10.349423+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIFM1 was added\ngene: AIFM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:10.241296+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AHI1 was added\ngene: AHI1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:10.133577+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGXT was added\ngene: AGXT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:10.023143+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGRN was added\ngene: AGRN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:09.858169+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGL was added\ngene: AGL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGL were set to Glycogen storage disease IIIa",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:09.749574+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGA was added\ngene: AGA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:09.642930+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADK was added\ngene: ADK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:09.529121+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Dyschromatosis symmetrica hereditaria for gene: ADAR",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:09.421833+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:09.252621+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTSL2 was added\ngene: ADAMTSL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:09.146530+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS13 was added\ngene: ADAMTS13 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:09.042373+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADA was added\ngene: ADA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:08.933601+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACVRL1 was added\ngene: ACVRL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:08.824399+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACVR1 was added\ngene: ACVR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:08.718811+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTN4 was added\ngene: ACTN4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:08.553743+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTN1 was added\ngene: ACTN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:08.450397+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTG2 was added\ngene: ACTG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:08.344840+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Baraitser-Winter syndrome for gene: ACTG1",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:08.231179+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTG1 was added\ngene: ACTG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTG1 were set to Deafness, autosomal dominant",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:08.126007+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTB was added\ngene: ACTB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTB were set to Baraitser-Winter syndrome",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:08.017438+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTA1 was added\ngene: ACTA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTA1 were set to Nemaline myopathy",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:07.851464+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACSF3 was added\ngene: ACSF3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:07.749305+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACOX1 was added\ngene: ACOX1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:07.646100+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACE was added\ngene: ACE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:07.537581+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAT1 was added\ngene: ACAT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:07.431583+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADVL was added\ngene: ACADVL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADVL were set to VLCAD deficiency",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:07.324627+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADM was added\ngene: ACADM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:07.160107+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAD9 was added\ngene: ACAD9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAD9 were set to ACAD9 deficiency",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:07.089794+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACAD8 was added\ngene: ACAD8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:06.946153+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCG5 was added\ngene: ABCG5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:06.843859+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCD1 was added\ngene: ABCD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:06.738557+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC9 was added\ngene: ABCC9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ABCC9 were set to Hypertrichotic osteochondrodysplasia",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:06.633341+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC8 was added\ngene: ABCC8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:06.524665+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC6 was added\ngene: ABCC6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:06.421422+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB4 was added\ngene: ABCB4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:06.259137+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB11 was added\ngene: ABCB11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:06.154539+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCA4 was added\ngene: ABCA4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:06.054226+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCA3 was added\ngene: ABCA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:05.949015+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCA12 was added\ngene: ABCA12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:05.841029+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AARS was added\ngene: AARS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:05.737470+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AAAS was added\ngene: AAAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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": "2020-08-27T20:02:04.791685+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Newborn Screening_BabySeq",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-27T18:08:31.912734+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: C9orf72 as Green List (high evidence)",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-08-27T18:08:31.908542+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only reported cause of disease is a hexanucleotide repeat (GGGGCC) located between the noncoding exons 1a and 1b. RNA toxicity or proteotoxicity is the expected mechanism of disease.",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-08-27T18:08:31.873666+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c9orf72 has been classified as Green List (High Evidence).",
"entity_name": "C9orf72",
"entity_type": "gene"
},
{
"created": "2020-08-27T16:12:41.310140+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: HDL2 as Green List (high evidence)",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2020-08-27T16:12:41.299740+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hdl2 has been classified as Green List (High Evidence).",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2020-08-27T16:08:17.839330+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HDL2 was added\nSTR: HDL2 was added to Early-onset Dementia. Sources: Expert list\nSTR tags were added to STR: HDL2.\nMode of inheritance for STR: HDL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HDL2 were set to 20301701\nPhenotypes for STR: HDL2 were set to Huntington disease-like 2 MIM#606438\nReview for STR: HDL2 was set to GREEN\nSTR: HDL2 was marked as clinically relevant\nAdded comment: NM_001271604.2:c.431CTG[X] or NM_020655.4:c.382+760CTG[X]\r\nIn an alternatively spliced exon, the repeat can be transcribed in both directions, leading to CUG (more common) or CAG (less common) repeat-containing transcripts. While a dominant RNA toxic effect may occur, the repeat expansion also reduces levels of the Junctophilin-3 protein\r\nNormal: ≤28 repeats\r\nQuestionable significance: 29-39 repeats, mutable normal or reduced penetrance included\r\nFull penetrance: ≥40 repeats \nSources: Expert list",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2020-08-27T14:50:28.856028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCLAF1 as ready",
"entity_name": "BCLAF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T14:50:28.845236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bclaf1 has been classified as Red List (Low Evidence).",
"entity_name": "BCLAF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T14:50:16.885790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCLAF1 as Red List (low evidence)",
"entity_name": "BCLAF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T14:50:16.876312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bclaf1 has been classified as Red List (Low Evidence).",
"entity_name": "BCLAF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T14:14:02.372652+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3951",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: BCLAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BCLAF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T10:36:53.222406+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.204",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: MYO9A as ready",
"entity_name": "MYO9A",
"entity_type": "gene"
}
]
}