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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=543",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=541",
"results": [
{
"created": "2023-10-04T12:42:54.949165+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq6 has been classified as Green List (High Evidence).",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:42:51.807982+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ6 were changed from Nephrotic syndrome with sensorineural deafness; Coenzyme Q10 deficiency, primary, 6, MIM#\t614650 to Coenzyme Q10 deficiency, primary, 6, MIM#\t614650",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:42:33.778823+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COQ6 as Green List (high evidence)",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:42:33.752639+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq6 has been classified as Green List (High Evidence).",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:42:22.010718+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COQ6.\nTag metabolic tag was added to gene: COQ6.",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:42:09.552076+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 6 MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:36:04.762979+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ2 as ready",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:36:04.752203+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq2 has been classified as Green List (High Evidence).",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:33:05.876429+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1, MIM#\t607426; Coenzyme Q10 deficiency, primary, 1 to Coenzyme Q10 deficiency, primary, 1, MIM#\t607426",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:32:42.048771+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COQ2 as Green List (high evidence)",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:32:42.039670+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq2 has been classified as Green List (High Evidence).",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:32:30.046138+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: COQ2.\nTag metabolic tag was added to gene: COQ2.",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:32:18.031124+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM# 607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:01:05.598006+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNB1 as ready",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:01:05.583080+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnb1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:00:59.537558+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHRNB1 as Green List (high evidence)",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:00:59.517856+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnb1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:00:43.701345+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRNB1.\nTag neurological tag was added to gene: CHRNB1.",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2023-10-04T12:00:32.906620+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32895905; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2023-10-04T11:53:45.641458+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFI as ready",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2023-10-04T11:53:45.628163+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfi has been classified as Green List (High Evidence).",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2023-10-04T11:53:41.838876+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFI were changed from Haemolytic uraemic syndrome to Complement factor I deficiency MIM#610984",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2023-10-04T11:53:26.908380+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFI as Green List (high evidence)",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2023-10-04T11:53:26.900463+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfi has been classified as Green List (High Evidence).",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2023-10-04T11:53:14.549119+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor I deficiency MIM#610984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2023-10-04T11:50:16.833719+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFH as ready",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2023-10-04T11:50:16.822167+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfh has been classified as Green List (High Evidence).",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2023-10-04T11:50:13.487895+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFH were changed from Haemolytic uraemic syndrome to Complement factor H deficiency, MIM# 609814",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2023-10-04T11:49:59.032176+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFH as Green List (high evidence)",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2023-10-04T11:49:59.016510+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfh has been classified as Green List (High Evidence).",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2023-10-04T11:49:49.035161+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CFH.\nTag immunological tag was added to gene: CFH.",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2023-10-04T11:49:37.893211+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor H deficiency, MIM# 609814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:08:27.054191+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFD as ready",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:08:27.040440+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfd has been classified as Green List (High Evidence).",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:08:22.279856+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFD were changed from Complement factor D deficiency, MIM#\t613912; Complement factor D deficiency to Complement factor D deficiency, MIM#\t613912",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:08:08.952319+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFD were set to ",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:07:58.555014+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFD as Green List (high evidence)",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:07:58.523033+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfd has been classified as Green List (High Evidence).",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:07:49.606845+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CFD.\nTag immunological tag was added to gene: CFD.",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:07:38.700673+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: None; Publications: 11457876, 16527897, 31440263; Phenotypes: Complement factor D deficiency, MIM# 613912; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:03:56.270038+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEBPE as ready",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:03:56.260417+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cebpe has been classified as Green List (High Evidence).",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:03:51.608961+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEBPE as Green List (high evidence)",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:03:51.590818+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cebpe has been classified as Green List (High Evidence).",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:03:42.788522+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CEBPE.\nTag immunological tag was added to gene: CEBPE.",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:03:32.795092+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEBPE was added\ngene: CEBPE was added to BabyScreen+ newborn screening. Sources: Expert Review\nMode of inheritance for gene: CEBPE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEBPE were set to Specific granule deficiency, MIM# 245480\nReview for gene: CEBPE was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nRecurrent infections in infancy and childhood.\r\n\r\nTreatment: long term antimicrobial prophalaxis\r\n\r\nNon-genetic confirmatory testing available \nSources: Expert Review",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:00:18.101529+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C3 as ready",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2023-10-04T08:00:18.087239+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c3 has been classified as Green List (High Evidence).",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:58:54.434706+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C3 were changed from Haemolytic uraemic syndrome; C3 deficiency, MIM#\t613779 to C3 deficiency, MIM#\t613779",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:58:39.525062+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C3 as Green List (high evidence)",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:58:39.486784+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c3 has been classified as Green List (High Evidence).",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:58:30.882465+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: C3.\nTag immunological tag was added to gene: C3.",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:58:19.800303+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C3 deficiency, MIM# 613779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:55:42.953603+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C2 as ready",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:55:42.941416+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2 has been classified as Green List (High Evidence).",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:54:57.401226+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C2 as Green List (high evidence)",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:54:57.381844+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2 has been classified as Green List (High Evidence).",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:54:48.428781+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: C2.\nTag immunological tag was added to gene: C2.",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:54:36.908949+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C2 was added\ngene: C2 was added to BabyScreen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: C2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C2 were set to 31421540\nPhenotypes for gene: C2 were set to C2 deficiency, MIM#\t217000\nReview for gene: C2 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nCan present with severe early infections in infancy/childhood.\r\n\r\nLater manifestations include autoimmune phenomena.\r\n\r\nTreatment: pneumococcal, meningococcal, haemophilus influenzae vaccines\r\n\r\nNon-genetic confirmatory tests: complement levels \nSources: Expert list",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:44:02.754419+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOA5 as ready",
"entity_name": "APOA5",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:44:02.743216+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoa5 has been classified as Red List (Low Evidence).",
"entity_name": "APOA5",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:43:28.607952+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APOA5 was added\ngene: APOA5 was added to BabyScreen+ newborn screening. Sources: Expert list\ntreatable tags were added to gene: APOA5.\nMode of inheritance for gene: APOA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: APOA5 were set to 23307945; 31390500\nPhenotypes for gene: APOA5 were set to Hyperchylomicronaemia, late-onset, MIM#\t144650\nReview for gene: APOA5 was set to RED\nAdded comment: Established gene-disease association.\r\n\r\nVariable age of onset, many of the reported individuals are adults.\r\n\r\nTreatment: Volanesorsen \nSources: Expert list",
"entity_name": "APOA5",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:32:53.223504+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP3D1 as ready",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:32:53.203649+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:32:47.236846+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP3D1 as Amber List (moderate evidence)",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:32:47.222816+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:30:36.267941+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP3D1 was added\ngene: AP3D1 was added to BabyScreen+ newborn screening. Sources: Expert list\ntreatable, haematological tags were added to gene: AP3D1.\nMode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP3D1 were set to 26744459; 9697856; 30472485; 36445457\nPhenotypes for gene: AP3D1 were set to Hermansky-Pudlak syndrome 10, MIM# 617050\nReview for gene: AP3D1 was set to AMBER\nAdded comment: Four individuals from two unrelated families and a mouse model. Borderline gene-disease association.\r\n\r\nNew case report 36445457, proband presenting with SNHL and questionable other subtle features of HPS, homozygous missense variant (VOUS).\r\n\r\nOnset in infancy.\r\n\r\nTreatable: BMT for immunodeficiency. \nSources: Expert list",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:24:02.333069+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMACR as ready",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:24:02.319548+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:23:58.092645+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMACR were changed from Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4 to Bile acid synthesis defect, congenital, 4, MIM# 214950",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:23:44.872555+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMACR were set to ",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:23:31.924388+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMACR as Green List (high evidence)",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:23:31.911702+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:23:22.343225+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AMACR.\nTag liver tag was added to gene: AMACR.",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-10-04T07:23:08.267770+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12512044; Phenotypes: Bile acid synthesis defect, congenital, 4, MIM# 214950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-10-03T21:04:36.954948+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ABCD4.",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2023-10-03T16:20:57.300297+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC9A3: Changed rating: AMBER",
"entity_name": "SLC9A3",
"entity_type": "gene"
},
{
"created": "2023-10-03T16:20:49.977286+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: SLC9A3",
"entity_name": "SLC9A3",
"entity_type": "gene"
},
{
"created": "2023-10-03T14:48:42.604550+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFB as ready",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2023-10-03T14:48:42.587811+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfb has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:47:19.965700+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:47:10.204468+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:46:37.110169+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:46:16.069403+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040 to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:45:44.372003+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:45:29.714244+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:44:58.368171+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATRX as ready",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:44:58.357319+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:44:54.150556+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:44:20.635290+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:43:46.064206+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ATR-X-related syndrome MONDO:0016980; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:43:10.692421+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Alpha-thalassaemia/mental retardation syndrome, MIM# 301040 to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:42:49.070080+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:42:29.718019+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:42:03.091135+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome MIM#301040 to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:41:28.827856+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:40:44.301610+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:40:27.739063+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Intellectual disability-hypotonic facies syndrome, X-linked, MIM#\t309580; Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. to ATR-X-related syndrome MONDO:0016980; Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies.",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:39:38.508447+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580; Alpha-thalassemia/mental retardation syndrome, MIM# 301040 to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:39:07.467982+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
}
]
}