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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1638",
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"results": [
{
"created": "2020-08-27T21:05:42.247886+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP7B1 was added\ngene: CYP7B1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:41.617446+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP7A1 was added\ngene: CYP7A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:41.134871+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYCS was added\ngene: CYCS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:40.438260+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTF1 was added\ngene: CTF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:39.951521+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTDP1 was added\ngene: CTDP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:39.542881+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSTA was added\ngene: CSTA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:38.648453+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to CSRP3.\nSource Expert Review Red was added to CSRP3.\nAdded phenotypes Cardiomyopathy, dilated, 1M for gene: CSRP3\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:38.223416+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSF2RB was added\ngene: CSF2RB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:37.749922+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSF1R was added\ngene: CSF1R was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:37.129931+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRELD1 was added\ngene: CRELD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:36.645924+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CR2 was added\ngene: CR2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:36.240245+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPZ was added\ngene: CPZ was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:35.617444+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPOX was added\ngene: CPOX was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CPOX were set to Coproporphyria",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:35.140559+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX4I2 was added\ngene: COX4I2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:34.733678+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ6 was added\ngene: COQ6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ6 were set to Nephrotic syndrome with sensorineural deafness",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:34.046242+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ2 was added\ngene: COQ2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:33.637664+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL9A2 was added\ngene: COL9A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A2 were set to Stickler syndrome",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:33.225920+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL9A1 was added\ngene: COL9A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A1 were set to Stickler syndrome",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:32.328820+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to COL1A1.\nSource Expert Review Red was added to COL1A1.\nAdded phenotypes Caffey disease for gene: COL1A1\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:31.843469+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG7 was added\ngene: COG7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:31.224959+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG5 was added\ngene: COG5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi",
"entity_name": "COG5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:30.748909+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG4 was added\ngene: COG4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:30.345982+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNTNAP2 was added\ngene: CNTNAP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:29.644756+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLPP was added\ngene: CLPP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLPP were set to Perrault syndrome",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:29.239473+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLMP was added\ngene: CLMP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:28.840317+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN1 was added\ngene: CLDN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:28.218710+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN7 was added\ngene: CLCN7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CLCN7 were set to Osteopetrosis",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:27.750735+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN1 was added\ngene: CLCN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: CLCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CLCN1 were set to Myotonia congenita",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:27.341557+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CITED2 was added\ngene: CITED2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:26.727569+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CISD2 was added\ngene: CISD2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:26.321478+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UTP4 was added\ngene: UTP4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: UTP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UTP4 were set to North American Indian childhood cirrhosis",
"entity_name": "UTP4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:25.849134+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHSY1 was added\ngene: CHSY1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:25.227200+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHST3 was added\ngene: CHST3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:24.820394+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNB1 was added\ngene: CHRNB1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNB1 were set to Congenital myasthenic syndrome",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:24.417443+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNA2 was added\ngene: CHRNA2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:23.730247+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRM2 was added\ngene: CHRM2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:23.323975+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHEK2 was added\ngene: CHEK2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:22.849703+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFI was added\ngene: CFI was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:22.231328+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFHR5 was added\ngene: CFHR5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:21.824070+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFHR4 was added\ngene: CFHR4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:21.423069+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFHR3 was added\ngene: CFHR3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:21.018735+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFHR1 was added\ngene: CFHR1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:20.333704+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFH was added\ngene: CFH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:19.860554+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFD was added\ngene: CFD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFD were set to Complement factor D deficiency",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:19.447090+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFB was added\ngene: CFB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CFB were set to Haemolytic uraemic syndrome",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:18.833816+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP41 was added\ngene: CEP41 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:18.428239+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CENPJ was added\ngene: CENPJ was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:17.948570+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEACAM16 was added\ngene: CEACAM16 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:17.338213+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDT1 was added\ngene: CDT1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDT1 were set to Meier-Gorlin syndrome",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:16.936435+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDON was added\ngene: CDON was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:16.535100+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK5RAP2 was added\ngene: CDK5RAP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:15.683901+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to CDH1.\nSource Expert Review Red was added to CDH1.\nAdded phenotypes Orofacial clefts for gene: CDH1\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:15.226649+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD96 was added\ngene: CD96 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:14.747429+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD46 was added\ngene: CD46 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:14.149597+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD36 was added\ngene: CD36 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:13.722087+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD2AP was added\ngene: CD2AP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:13.243819+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC88C was added\ngene: CCDC88C was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:12.629010+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC78 was added\ngene: CCDC78 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:12.218889+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC50 was added\ngene: CCDC50 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: CCDC50 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC50 were set to Hearing loss",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:11.748648+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC103 was added\ngene: CCDC103 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:10.930236+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene CAV3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Rippling muscle disease for gene: CAV3",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:10.248822+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Long QT syndrome-9 for gene: CAV3",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:09.349113+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to CAV3.\nSource Expert Review Red was added to CAV3.\nAdded phenotypes Cardiomyopathy, familial hypertrophic for gene: CAV3\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:08.932677+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASP10 was added\ngene: CASP10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:08.243799+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARS2 was added\ngene: CARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:07.843668+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNB2 was added\ngene: CACNB2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:07.437620+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA2D1 was added\ngene: CACNA2D1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:06.818823+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1S was added\ngene: CACNA1S was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:06.370249+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1D was added\ngene: CACNA1D was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: CACNA1D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CACNA1D were set to Sinoatrial node dysfunction and deafness",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:05.934637+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C3 was added\ngene: C3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C3 were set to Haemolytic uraemic syndrome",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:05.243932+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BVES was added\ngene: BVES was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:04.647517+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to BSCL2.\nSource Expert Review Red was added to BSCL2.\nMode of inheritance for gene BSCL2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Silver spastic paraplegia syndrome for gene: BSCL2\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:03.767041+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to BRCA2.\nSource Expert Review Red 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 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": "2020-08-27T21:05:03.333708+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRCA1 was added\ngene: BRCA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:02.440870+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to BRAF.\nSource Expert Review Red was added to BRAF.\nAdded phenotypes LEOPARD syndrome for gene: BRAF\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:01.957476+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BPGM was added\ngene: BPGM was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:01.534886+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BNC2 was added\ngene: BNC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:05:00.640058+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to BMPR1A.\nSource Expert Review Red was added to BMPR1A.\nAdded phenotypes Tetralogy of Fallot for gene: BMPR1A\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:05:00.223529+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLOC1S6 was added\ngene: BLOC1S6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:59.720227+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLOC1S3 was added\ngene: BLOC1S3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:59.035344+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BDNF was added\ngene: BDNF was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:58.634015+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCL9 was added\ngene: BCL9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:58.230140+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BARD1 was added\ngene: BARD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:57.543503+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BANF1 was added\ngene: BANF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:56.952419+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to BAG3.\nSource Expert Review Red was added to BAG3.\nAdded phenotypes Myopathy, myofibrillar for gene: BAG3\nRating Changed from Amber List (moderate evidence) to Red List (low evidence)",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:04:56.537258+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B9D2 was added\ngene: B9D2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:55.918830+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B4GALT1 was added\ngene: B4GALT1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:55.518864+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GAT3 was added\ngene: B3GAT3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:55.118713+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AXL was added\ngene: AXL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:54.435670+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATR was added\ngene: ATR was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:53.839952+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category C gene was added to ATP7A.\nSource Expert Review Red was added to ATP7A.\nAdded phenotypes Spinal muscular atrophy, distal, X-linked 3 for gene: ATP7A\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:04:53.426487+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6AP2 was added\ngene: ATP6AP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:52.743329+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP1A3 was added\ngene: ATP1A3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:52.346122+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATN1 was added\ngene: ATN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:51.943906+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATIC was added\ngene: ATIC was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:51.327802+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASNS was added\ngene: ASNS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:50.930777+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASCL1 was added\ngene: ASCL1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:50.533944+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSE was added\ngene: ARSE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:49.843676+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARL13B was added\ngene: ARL13B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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": "2020-08-27T21:04:49.442339+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARID1A was added\ngene: ARID1A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\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"
}
]
}