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"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=757",
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"results": [
{
"created": "2022-09-19T07:31:02.708388+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DBH was added\ngene: DBH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DBH were set to Dopamine beta-hydroxylase deficiency",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:02.014526+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DAPK3 was added\ngene: DAPK3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DAPK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DAPK3 were set to Congenital heart disease",
"entity_name": "DAPK3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:01.503606+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DAG1 was added\ngene: DAG1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:00.805735+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP7B1 was added\ngene: CYP7B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP7B1 were set to Cholestasis, severe",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:31:00.312370+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP7A1 was added\ngene: CYP7A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CYP7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP7A1 were set to Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency",
"entity_name": "CYP7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:59.888659+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYCS was added\ngene: CYCS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CYCS were set to Thrombocytopenia 4",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:59.137570+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTF1 was added\ngene: CTF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CTF1 was set to Unknown\nPhenotypes for gene: CTF1 were set to Cardiomyopathy, dilated",
"entity_name": "CTF1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:58.608475+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTDP1 was added\ngene: CTDP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTDP1 were set to Congenital cataracts - facial dysmorphism - neuropathy",
"entity_name": "CTDP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:57.911353+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSTA was added\ngene: CSTA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSTA were set to Exfoliative ichthyosis",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:57.494771+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSRP3 was added\ngene: CSRP3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene\nMode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CSRP3 were set to Cardiomyopathy, dilated, 1M; Cardiomyopathy, familial hypertrophic, 12",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:57.004805+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSF2RB was added\ngene: CSF2RB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSF2RB were set to Pulmonary alveolar proteinosis",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:56.387645+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSF1R was added\ngene: CSF1R was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:55.909686+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRELD1 was added\ngene: CRELD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CRELD1 were set to Cardiac atrioventricular septal defect",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:55.198358+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CR2 was added\ngene: CR2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CR2 were set to Hypogammaglobulinaemia",
"entity_name": "CR2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:54.715391+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPZ was added\ngene: CPZ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CPZ were set to Autism",
"entity_name": "CPZ",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:53.819304+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to CPOX.\nSource BabySeq Category C gene was added to CPOX.\nMode of inheritance for gene CPOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Coproporphyria for gene: CPOX\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:53.404507+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX4I2 was added\ngene: COX4I2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:52.517489+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to COQ6.\nSource BabySeq Category C gene was added to COQ6.\nAdded phenotypes Nephrotic syndrome with sensorineural deafness for gene: COQ6\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:51.840721+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to COQ2.\nSource BabySeq Category C gene was added to COQ2.\nAdded phenotypes Coenzyme Q10 deficiency, primary, 1 for gene: COQ2\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:51.190929+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG7 was added\ngene: COG7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:50.710784+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG4 was added\ngene: COG4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COG4 were set to Congenital disorder of glycosylation, type IIj",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:50.051198+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNTNAP2 was added\ngene: CNTNAP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CNTNAP2 was set to Unknown\nPhenotypes for gene: CNTNAP2 were set to Autism spectrum disorder",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:49.601796+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLMP was added\ngene: CLMP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLMP were set to Congenital short-bowel syndrome",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:49.115193+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN1 was added\ngene: CLDN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:48.500908+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN1 was added\ngene: CLCN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CLCN1 were set to Myotonia congenita, recessive, MIM# 255700; Myotonia congenita, dominant, MIM# 160800",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:48.092472+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CITED2 was added\ngene: CITED2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CITED2 were set to Congenital heart defects",
"entity_name": "CITED2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:47.399159+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CISD2 was added\ngene: CISD2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CISD2 were set to Wolfram syndrome",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:46.931097+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHSY1 was added\ngene: CHSY1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:46.504338+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHST3 was added\ngene: CHST3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHST3 were set to Larsen syndrome",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:45.616510+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to CHRNB1.\nSource BabySeq Category C gene was added to CHRNB1.\nAdded phenotypes Congenital myasthenic syndrome for gene: CHRNB1\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:44.905435+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNA2 was added\ngene: CHRNA2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CHRNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHRNA2 were set to Epilepsy",
"entity_name": "CHRNA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:44.427672+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRM2 was added\ngene: CHRM2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CHRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHRM2 were set to Cardiomyopathy, dilated",
"entity_name": "CHRM2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:44.001946+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHEK2 was added\ngene: CHEK2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHEK2 were set to Breast cancer, susceptibility to",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:43.310730+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFI was added\ngene: CFI was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFI were set to Haemolytic uraemic syndrome",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:42.907188+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFHR5 was added\ngene: CFHR5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CFHR5 were set to Haemolytic uraemic syndrome",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:42.214420+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFHR4 was added\ngene: CFHR4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CFHR4 was set to Unknown\nPhenotypes for gene: CFHR4 were set to Hemolytic-uremic syndrome, atypical, susceptibility to",
"entity_name": "CFHR4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:41.807134+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFHR3 was added\ngene: CFHR3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CFHR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFHR3 were set to Haemolytic uraemic syndrome",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:41.400489+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFHR1 was added\ngene: CFHR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CFHR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFHR1 were set to Haemolytic uraemic syndrome",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:40.695971+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFH was added\ngene: CFH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFH were set to Haemolytic uraemic syndrome",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:40.022152+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to CFD.\nSource BabySeq Category C gene was added to CFD.\nAdded phenotypes Complement factor D deficiency for gene: CFD\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:39.115846+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to CFB.\nSource BabySeq Category C gene was added to CFB.\nAdded phenotypes Haemolytic uraemic syndrome for gene: CFB\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:38.690811+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP41 was added\ngene: CEP41 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP41 were set to Joubert syndrome",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:38.008775+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CENPJ was added\ngene: CENPJ was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CENPJ were set to Primary microcephaly",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:37.517547+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEACAM16 was added\ngene: CEACAM16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CEACAM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CEACAM16 were set to Hearing loss, autosomal dominant",
"entity_name": "CEACAM16",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:36.892290+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDON was added\ngene: CDON was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDON were set to Holoprosencephaly",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:36.410366+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH1 was added\ngene: CDH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene\nMode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDH1 were set to Orofacial clefts; Gastric cancer",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:35.997010+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD96 was added\ngene: CD96 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CD96 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD96 were set to C syndrome",
"entity_name": "CD96",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:35.302508+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD46 was added\ngene: CD46 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CD46 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD46 were set to Haemolytic uraemic syndrome",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:34.890812+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD36 was added\ngene: CD36 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CD36 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD36 were set to Platelet glycoprotein IV deficiency",
"entity_name": "CD36",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:34.212252+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD2AP was added\ngene: CD2AP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CD2AP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD2AP were set to Glomerulosclerosis, focal segmental, 3",
"entity_name": "CD2AP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:33.803398+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC88C was added\ngene: CCDC88C was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC88C were set to Hydrocephalus",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:33.397841+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC78 was added\ngene: CCDC78 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CCDC78 were set to Congenital myopathy with prominent internal nuclei and atypical cores",
"entity_name": "CCDC78",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:32.708875+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC50 was added\ngene: CCDC50 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CCDC50 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCDC50 were set to 27911912; 24875298; 17503326\nPhenotypes for gene: CCDC50 were set to Deafness, autosomal dominant 44 , MIM# 607453",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:32.307062+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC103 was added\ngene: CCDC103 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC103 were set to Primary ciliary dyskinesia",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:31.899929+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAVIN4 was added\ngene: CAVIN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CAVIN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CAVIN4 were set to Cardiomyopathy, dilated",
"entity_name": "CAVIN4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:31.206884+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASP10 was added\ngene: CASP10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CASP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CASP10 were set to Autoimmune lymphoproliferative syndrome II",
"entity_name": "CASP10",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:30.800307+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARS2 was added\ngene: CARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CARS2 were set to Epileptic encephalopathy",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:30.133347+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNB2 was added\ngene: CACNB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNB2 were set to Brugada syndrome",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:29.707350+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA2D1 was added\ngene: CACNA2D1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA2D1 were set to Brugada syndrome",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:29.305008+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1S was added\ngene: CACNA1S was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1S were set to Malignant hyperthermia",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:28.429609+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to CACNA1D.\nSource BabySeq Category C gene was added to CACNA1D.\nMode of inheritance for gene CACNA1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Sinoatrial node dysfunction and deafness for gene: CACNA1D\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:27.534098+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to C3.\nSource BabySeq Category C gene was added to C3.\nAdded phenotypes Haemolytic uraemic syndrome for gene: C3\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:27.099762+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BVES was added\ngene: BVES was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: BVES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BVES were set to Congenital heart disease",
"entity_name": "BVES",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:26.290354+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to BRCA2.\nSource BabySeq Category A gene was added to BRCA2.\nSource BabySeq Category C gene was added to BRCA2.\nMode of inheritance for gene BRCA2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Fanconi anemia, complementation group D1; Breast-ovarian cancer, familial, 2 for gene: BRCA2\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:25.808519+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRCA1 was added\ngene: BRCA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRCA1 were set to Breast-ovarian cancer, familial, 1",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:25.309150+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BPGM was added\ngene: BPGM was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: BPGM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BPGM were set to Erythrocytosis due to bisphosphoglycerate mutase deficiency",
"entity_name": "BPGM",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:24.620424+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BNC2 was added\ngene: BNC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BNC2 were set to Total anomalous pulmonary venous return",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:24.211504+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLOC1S6 was added\ngene: BLOC1S6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:23.605004+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLOC1S3 was added\ngene: BLOC1S3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:23.201479+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BDNF was added\ngene: BDNF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BDNF were set to Central hypoventilation syndrome",
"entity_name": "BDNF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:22.801799+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCL9 was added\ngene: BCL9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: BCL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BCL9 were set to Congenital heart disease",
"entity_name": "BCL9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:22.128412+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BARD1 was added\ngene: BARD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: BARD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BARD1 were set to Tetralogy of Fallot",
"entity_name": "BARD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:21.705030+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BANF1 was added\ngene: BANF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BANF1 were set to Progeroid syndrome",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:21.090020+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BAG3 was added\ngene: BAG3 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene\nMode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BAG3 were set to Myopathy, myofibrillar; Cardiomyopathy, dilated",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:20.608519+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B9D2 was added\ngene: B9D2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B9D2 were set to Meckel syndrome",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:20.202252+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B4GALT1 was added\ngene: B4GALT1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B4GALT1 were set to CDG syndrome type IId",
"entity_name": "B4GALT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:19.513816+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GAT3 was added\ngene: B3GAT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:19.108654+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AXL was added\ngene: AXL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: AXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AXL were set to Hypogonadotropic hypogonadism",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:18.707434+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATR was added\ngene: ATR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATR were set to Seckel syndrome",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:18.100335+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6AP2 was added\ngene: ATP6AP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATP6AP2 were set to X-linked recessive intellectual deficit - epilepsy",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:17.699402+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP1A3 was added\ngene: ATP1A3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATP1A3 were set to Rapid-onset dystonia-parkinsonism",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:17.010411+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATN1 was added\ngene: ATN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATN1 were set to Dentatorubral-pallidoluysian atrophy 1",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:16.605501+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATIC was added\ngene: ATIC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATIC were set to AICA-Ribosiduria",
"entity_name": "ATIC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:16.198746+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASNS was added\ngene: ASNS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASNS were set to Microcephaly, intellectual disability, cerebral atrophy & intractable seizures",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:15.513392+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASCL1 was added\ngene: ASCL1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ASCL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ASCL1 were set to Congenital central hypoventilation",
"entity_name": "ASCL1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:15.096015+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSE was added\ngene: ARSE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:14.616517+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARL13B was added\ngene: ARL13B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARL13B were set to Joubert syndrome",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:13.989961+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARID1A was added\ngene: ARID1A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ARID1A were set to Coffin-Siris syndrome",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:13.587601+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARHGEF9 was added\ngene: ARHGEF9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARHGEF9 were set to Hyperekplexia and epilepsy",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:12.909965+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARHGAP31 was added\ngene: ARHGAP31 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ARHGAP31 were set to Syndromic cutis aplasia & limb anomalies",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:12.506534+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APP was added\ngene: APP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: APP were set to Alzheimer disease 1, familial",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:12.106964+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APOE was added\ngene: APOE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: APOE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APOE were set to Sea-blue histiocyte disease",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:11.492094+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP1S3 was added\ngene: AP1S3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: AP1S3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AP1S3 were set to Pustular psoriasis",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:11.013186+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANO5 was added\ngene: ANO5 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene\nMode of inheritance for gene: ANO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, type 2L; Gnathodiaphyseal dysplasia",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:10.395666+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKRD1 was added\ngene: ANKRD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene\nMode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANKRD1 were set to Cardiomyopathy, hypertrophic; Cardiomyopathy, dilated",
"entity_name": "ANKRD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:09.913140+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMPD1 was added\ngene: AMPD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMPD1 were set to Adenosine monophosphate deaminase deficiency",
"entity_name": "AMPD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:09.511388+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMACR was added\ngene: AMACR was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:08.905073+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG2 was added\ngene: ALG2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG2 were set to Congenital disorder of glycosylation, type Ii",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:08.423746+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG11 was added\ngene: ALG11 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG11 were set to Congenital disorder of glycosylation type 1P",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:08.005002+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDOA was added\ngene: ALDOA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOA were set to Aldolase A deficiency",
"entity_name": "ALDOA",
"entity_type": "gene"
}
]
}