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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1069",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1067",
"results": [
{
"created": "2021-12-30T11:42:55.136373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 unrelated families reported, overgrowth, and in particular macrocephaly reported.; to: More than 10 unrelated families reported, overgrowth, and in particular macrocephaly.",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:42:46.522686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668385, 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93, MIM # 300659; 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": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:41:27.061077+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRWD3 were changed from Mental retardation, X-linked 93, MIM# 300659 to Intellectual developmental disorder, X-linked 93, OMIM # 300659",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:40:50.563404+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRWD3 were set to 17668385",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:40:33.293538+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRWD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:40:04.066845+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BRWD3: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:39:39.060540+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRWD3 as ready",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:39:39.042519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brwd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:39:33.023816+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRWD3 were changed from MENTAL RETARDATION X-LINKED TYPE 93 to tellectual developmental disorder, X-linked 93, MIM# 300659",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:39:12.682190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRWD3 as Amber List (moderate evidence)",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:39:12.672995+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brwd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:39:00.574438+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93, MIM# 300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:38:39.158502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10404",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ING1",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:38:01.427089+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10404",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ING1 as ready",
"entity_name": "ING1",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:38:01.422333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10404",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Cancer association only. Red for mendeliome.",
"entity_name": "ING1",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:38:01.396123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10404",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ing1 has been classified as Red List (Low Evidence).",
"entity_name": "ING1",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:36:55.466778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10404",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ING1 as Red List (low evidence)",
"entity_name": "ING1",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:36:55.461805+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10404",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Cancer association only",
"entity_name": "ING1",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:36:55.416487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10404",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ing1 has been classified as Red List (Low Evidence).",
"entity_name": "ING1",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:36:32.250953+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA1 as ready",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:36:32.236575+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca1 has been classified as Green List (High Evidence).",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:36:28.810145+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA1 were changed from INTELLECTUAL DISABILITY to Fanconi anaemia, complementation group S, MIM# 617883",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:36:14.902685+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRCA1 as Green List (high evidence)",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:36:14.890520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca1 has been classified as Green List (High Evidence).",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:36:01.198909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group S, MIM# 617883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:34:59.981333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDHB as ready",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:34:59.966078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdhb has been classified as Green List (High Evidence).",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:34:52.151544+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib, MIM# 248600",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:34:32.453128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCKDHB were set to ",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:34:14.966902+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCKDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:33:56.919165+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34883003, 34556729, 34288399; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:32:54.491513+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDHB as ready",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:32:54.482296+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdhb has been classified as Red List (Low Evidence).",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:32:48.687798+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCKDHB were changed from MAPLE SYRUP URINE DISEASE to Maple syrup urine disease, type Ib, MIM# 248600",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:32:32.992215+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCKDHB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:31:47.320108+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDHA as ready",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:31:47.310380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdha has been classified as Green List (High Evidence).",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:31:39.333715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCKDHA were changed from to Maple syrup urine disease, type Ia, MIM# 248600",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:31:19.978844+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCKDHA were set to ",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:30:57.624309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCKDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:30:38.985724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34883003, 34556729, 34288399; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:28:57.180503+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDHA as ready",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:28:57.171029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdha has been classified as Red List (Low Evidence).",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:28:05.640449+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCKDHA were changed from MAPLE SYRUP URINE DISEASE to Maple syrup urine disease, type Ia, MIM# 248600",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2021-12-30T11:27:26.889648+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCKDHA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2021-12-30T09:50:02.895945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10397",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: FSCN2 as ready",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2021-12-30T09:50:02.885132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10397",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fscn2 has been classified as Red List (Low Evidence).",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2021-12-30T09:49:50.244064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10397",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: FSCN2 were changed from to Retinitis pigmentosa 30 MIM#607921; Macular degeneration",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2021-12-30T09:49:29.480794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10396",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: FSCN2 were set to ",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2021-12-30T09:49:07.642253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10395",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: FSCN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2021-12-30T09:48:21.799613+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10394",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: FSCN2 as Red List (low evidence)",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2021-12-30T09:48:21.787227+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10394",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fscn2 has been classified as Red List (Low Evidence).",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2021-12-30T09:48:19.284321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10394",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: FSCN2 as Red List (low evidence)",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2021-12-30T09:48:19.274039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10394",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fscn2 has been classified as Red List (Low Evidence).",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2021-12-30T09:47:24.153213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10393",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: None; Publications: 11527955, 16043865, 16280978, 17251446, 18450588; Phenotypes: Retinitis pigmentosa 30 MIM#607921, Macular degeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2021-12-30T09:46:35.057937+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.31",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: FSCN2 were changed from Retinitis pigmentosa 30, 607921 to Retinitis pigmentosa 30 MIM#607921; Macular degeneration",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:23:16.036543+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM# 615834 to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:22:47.892558+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AUTS2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834; Mode of inheritance: None",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:22:19.967456+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM#\t615834 to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:21:53.798701+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AUTS2: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:21:37.776740+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM#615834 to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:21:11.156282+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AUTS2: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:20:47.666697+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: AUTS2.",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:20:39.288562+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AUTS2 as ready",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:20:39.283783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note CNVs common.",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:20:39.257267+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auts2 has been classified as Green List (High Evidence).",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:20:35.726404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM#615834 to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:20:18.340210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AUTS2: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:19:56.325151+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUTS2 were changed from SYNDROMIC INTELLECTUAL DISABILITY to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:19:44.601762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AUTS2 were set to ",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:19:34.653811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AUTS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:19:25.470286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AUTS2 as Green List (high evidence)",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:19:25.460949+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auts2 has been classified as Green List (High Evidence).",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:19:13.070440+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mental retardation, autosomal dominant 26, MIM#615834; to: Low birth weight and microcephaly reported.",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:18:56.008417+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AUTS2: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:17:39.408358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AUH as ready",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:17:39.396159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auh has been classified as Green List (High Evidence).",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:17:31.404126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUH were changed from to 3-methylglutaconic aciduria, type I, MIM# 250950",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:16:59.949448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AUH were set to ",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:16:40.799801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:16:21.942306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434311, 16354225, 20855850, 21840233; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:14:23.489642+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AUH as ready",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:14:23.479448+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auh has been classified as Red List (Low Evidence).",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:14:16.550857+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUH were changed from 3-METHYLGLUTACONIC ACIDURIA TYPE 1 to 3-methylglutaconic aciduria, type I, MIM# 250950",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:14:02.046767+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:12:53.266499+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP8B1 as ready",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:12:53.252172+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp8b1 has been classified as Green List (High Evidence).",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:12:49.854431+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP8B1 were set to ",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:12:26.585529+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP8B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:11:59.908992+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP8B1: Changed phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300, Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:11:50.152100+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP8B1: Changed phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300, Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:11:39.397327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP8B1 as ready",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:11:39.386417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp8b1 has been classified as Green List (High Evidence).",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:11:20.897760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.\r\n\r\nSpectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.; to: Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:11:09.961282+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.\r\n\r\nSpectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.; to: Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:10:47.731339+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.; to: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.\r\n\r\nSpectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:10:27.475932+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.\r\n\r\nSpectrum of severity. Mono-allelic variants linked to cholestasis of pregnancy.; to: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.\r\n\r\nSpectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:09:08.386768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.; to: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.\r\n\r\nSpectrum of severity. Mono-allelic variants linked to cholestasis of pregnancy.",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:08:43.233548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP8B1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:08:22.186280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP8B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ATP8B1",
"entity_type": "gene"
}
]
}