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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=624",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=622",
"results": [
{
"created": "2023-03-24T14:19:41.000731+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2023-03-24T14:19:11.667256+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, X-linked, MIM# 305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2023-03-24T14:17:13.754231+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC29A3 as ready",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2023-03-24T14:17:13.742268+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc29a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2023-03-24T14:17:09.807574+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC29A3 as Amber List (moderate evidence)",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2023-03-24T14:17:09.796821+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc29a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2023-03-24T14:16:58.948131+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC29A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome - MIM#602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2023-03-24T13:57:52.573837+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STX4 were changed from to Non-syndromic genetic hearing loss, MONDO:0019497, STX4-related.",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2023-03-24T13:56:12.666989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STX4 were set to ",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2023-03-24T13:55:52.051765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2023-03-24T13:54:49.853642+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STX4 as Amber List (moderate evidence)",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2023-03-24T13:54:49.842400+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STX4",
"entity_type": "gene"
},
{
"created": "2023-03-24T13:50:10.520693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARF1 were set to 28868155; 34353862",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2023-03-24T13:48:44.963651+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SARS as ready",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-03-24T13:48:44.953358+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sars has been classified as Red List (Low Evidence).",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-03-24T13:48:38.394413+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SARS as Red List (low evidence)",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-03-24T13:48:38.377166+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sars has been classified as Red List (Low Evidence).",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:57:06.459446+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCARB2 as ready",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:57:06.442257+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scarb2 has been classified as Red List (Low Evidence).",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:56:59.108725+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCARB2 as Red List (low evidence)",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:56:59.097773+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scarb2 has been classified as Red List (Low Evidence).",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:56:31.756992+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPING1 as ready",
"entity_name": "SERPING1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:56:31.745946+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serping1 has been classified as Red List (Low Evidence).",
"entity_name": "SERPING1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:56:25.891024+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SERPING1 as Red List (low evidence)",
"entity_name": "SERPING1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:56:25.882118+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serping1 has been classified as Red List (Low Evidence).",
"entity_name": "SERPING1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:56:16.324642+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SERPING1.\nTag immunological tag was added to gene: SERPING1.",
"entity_name": "SERPING1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:54:05.658057+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGPL1 as ready",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:54:05.647422+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Red List (Low Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:54:00.794350+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGPL1 as Red List (low evidence)",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:54:00.783030+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Red List (Low Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:53:50.608542+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag renal tag was added to gene: SGPL1.",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:52:48.033611+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A3 as ready",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:52:48.021807+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a3 has been classified as Red List (Low Evidence).",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:52:43.199247+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC1A3 as Red List (low evidence)",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:52:43.192334+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a3 has been classified as Red List (Low Evidence).",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:52:34.124596+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag neurological tag was added to gene: SLC1A3.",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:51:57.120399+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCD2 as ready",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:51:57.105617+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcd2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:51:47.831350+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCD2 as Green List (high evidence)",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:51:47.823676+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcd2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:51:37.428304+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SMARCD2.\nTag immunological tag was added to gene: SMARCD2.",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:51:25.608665+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMARCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Specific granule deficiency 2 MIM#617475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:49:10.885597+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNX10 as ready",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:49:10.869888+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx10 has been classified as Green List (High Evidence).",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:49:05.900387+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNX10 as Green List (high evidence)",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:49:05.883161+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx10 has been classified as Green List (High Evidence).",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:48:54.685942+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SNX10.\nTag skeletal tag was added to gene: SNX10.",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:48:04.021391+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SORD as ready",
"entity_name": "SORD",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:48:04.010519+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sord has been classified as Red List (Low Evidence).",
"entity_name": "SORD",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:47:00.933346+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SORD as Red List (low evidence)",
"entity_name": "SORD",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:47:00.925931+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sord has been classified as Red List (Low Evidence).",
"entity_name": "SORD",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:46:51.440643+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SORD.\nTag metabolic tag was added to gene: SORD.",
"entity_name": "SORD",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:45:15.653998+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX3 as ready",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:45:15.646480+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:45:08.253761+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX3 as Amber List (moderate evidence)",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:45:08.241858+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:44:54.170791+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SOX3.\nTag treatable tag was added to gene: SOX3.\nTag endocrine tag was added to gene: SOX3.",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:44:35.810458+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Panhypopituitarism, X-linked MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:43:24.576074+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX3 as ready",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:43:24.565059+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:43:17.644402+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX3 as Amber List (moderate evidence)",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:43:17.634726+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:43:10.047276+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SOX3.",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:43:01.270627+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Panhypopituitarism, X-linked, MIM# 312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:40:13.009262+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAT1 as ready",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:40:12.998902+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat1 has been classified as Green List (High Evidence).",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:40:02.764050+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAT1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:39:52.251567+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STAT1 as Green List (high evidence)",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:39:52.237918+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat1 has been classified as Green List (High Evidence).",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:39:42.339632+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: STAT1.\nTag immunological tag was added to gene: STAT1.",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:39:29.412872+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:37:19.111368+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STIM1 as ready",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:37:19.100176+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Green List (High Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:37:13.684651+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STIM1 as Green List (high evidence)",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:37:13.676128+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Green List (High Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:37:02.800626+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: STIM1.\nTag immunological tag was added to gene: STIM1.",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:36:46.575922+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 10 MIM612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:23:12.510683+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STK4 as ready",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:23:12.500670+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stk4 has been classified as Green List (High Evidence).",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:23:07.347733+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STK4 as Green List (high evidence)",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:23:07.331805+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stk4 has been classified as Green List (High Evidence).",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:22:55.524553+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: STK4.\nTag immunological tag was added to gene: STK4.",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:22:43.403570+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:21:24.328802+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.93",
"user_name": "Aimee Huynh",
"item_type": "entity",
"text": "gene: IL2RB was added\ngene: IL2RB was added to Inflammatory bowel disease. Sources: Expert Review\nMode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL2RB were set to 31040184, 31040185\nPhenotypes for gene: IL2RB were set to immunodeficiency; autoimmune enteropathy\nPenetrance for gene: IL2RB were set to unknown\nReview for gene: IL2RB was set to AMBER\ngene: IL2RB was marked as current diagnostic\nAdded comment: 3 homozygous mutations in the IL2RB gene of 8 individuals from 4 consanguineous families that cause disease by distinct mechanisms. Nearly all patients presented with autoantibodies, hypergammaglobulinemia, bowel inflammation, dermatological abnormalities, lymphadenopathy, and CMV disease. 4/5 children had severe diarrhea and infectious/autoimmune enteropathy. Endoscopy of patient B1 showed villous atrophy, and gastrointestinal biopsies revealed chronic inflammatory infiltration of the duodenum and rectum. \nSources: Expert Review",
"entity_name": "IL2RB",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:21:12.689410+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STX16 as ready",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:21:12.682061+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx16 has been classified as Green List (High Evidence).",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:21:05.544576+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STX16 as Green List (high evidence)",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:21:05.532026+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx16 has been classified as Green List (High Evidence).",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:20:53.785558+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: STX16.\nTag endocrine tag was added to gene: STX16.",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:19:49.234060+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYT2 as ready",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:19:49.214893+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syt2 has been classified as Green List (High Evidence).",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:19:43.651886+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYT2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:19:32.078414+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYT2 as Green List (high evidence)",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:19:32.070674+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syt2 has been classified as Green List (High Evidence).",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:19:22.658592+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SYT2.\nTag neurological tag was added to gene: SYT2.",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:18:28.375686+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBL1X as ready",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:18:28.368593+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbl1x has been classified as Green List (High Evidence).",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:18:12.948240+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBL1X as Green List (high evidence)",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:18:12.940746+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbl1x has been classified as Green List (High Evidence).",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2023-03-24T11:18:03.671100+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.2064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TBL1X.\nTag endocrine tag was added to gene: TBL1X.",
"entity_name": "TBL1X",
"entity_type": "gene"
}
]
}