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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1745",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1743",
"results": [
{
"created": "2020-07-05T17:29:14.386494+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:28:44.325734+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP1B were changed from Intellectual disability; seizures; PVNH; dysmorphic features to Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:28:23.789415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAP1B: Changed phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features, Periventricular nodular heterotopia 9, MIM# 618918",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:28:16.864086+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP1B were set to ",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:27:08.584731+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-07-05T17:26:38.269405+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAP1B: Changed phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features, Periventricular nodular heterotopia 9, MIM# 618918",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:15:35.433265+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUZ12 as ready",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:15:35.422861+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suz12 has been classified as Green List (High Evidence).",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:15:32.194941+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUZ12 were changed from to Imagawa-Matsumoto syndrome, MIM# 618786",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:15:03.967790+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUZ12 were set to ",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:14:33.898855+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUZ12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:14:03.605756+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31736240, 28229514; Phenotypes: Imagawa-Matsumoto syndrome, MIM# 618786; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUZ12",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:10:43.435798+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 3 unrelated families reported.; to: At least 3 unrelated families reported, overgrowth is a key feature.",
"entity_name": "RNF125",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:09:18.933147+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF125 as ready",
"entity_name": "RNF125",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:09:18.919964+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf125 has been classified as Green List (High Evidence).",
"entity_name": "RNF125",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:09:16.293324+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF125 were changed from to Tenorio syndrome, MIM# 616260",
"entity_name": "RNF125",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:08:46.410236+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNF125 were set to ",
"entity_name": "RNF125",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:08:17.258526+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNF125 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RNF125",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:07:44.399714+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNF125: Rating: GREEN; Mode of pathogenicity: None; Publications: 25196541; Phenotypes: Tenorio syndrome, MIM# 616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RNF125",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:05:36.606607+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTCH1 as ready",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:05:36.597068+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Red List (Low Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:05:34.305590+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH1 were changed from to Basal cell nevus syndrome, MIM# 109400",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:05:01.293377+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTCH1 as Red List (low evidence)",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:05:01.267426+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Red List (Low Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2020-07-04T21:04:31.438248+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTCH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal cell nevus syndrome, MIM# 109400; Mode of inheritance: None",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:47:02.851979+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R5D as ready",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:47:02.842854+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5d has been classified as Red List (Low Evidence).",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:46:59.518866+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R5D were changed from to Mental retardation, autosomal dominant 35, MIM# 616355",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:46:30.979931+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R5D were set to ",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:46:07.952775+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP2R5D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:45:39.369651+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2R5D as Red List (low evidence)",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:45:39.360529+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5d has been classified as Red List (Low Evidence).",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:45:09.240642+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP2R5D: Rating: RED; Mode of pathogenicity: None; Publications: 26168268, 25972378, 25533962; Phenotypes: Mental retardation, autosomal dominant 35, MIM# 616355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:39:38.445109+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CA as ready",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:39:38.434988+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Green List (High Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:39:30.618899+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CA were changed from to Cowden syndrome 5, MIM# 615108",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:38:40.720009+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3CA were set to ",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:38:16.328901+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:37:43.672083+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246288, 32362992, 31929958; Phenotypes: Cowden syndrome 5, MIM# 615108; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:33:15.688008+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHF6 as ready",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:33:15.673033+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phf6 has been classified as Red List (Low Evidence).",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:33:12.837429+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHF6 were changed from to Borjeson-Forssman-Lehmann syndrome, MIM# 301900",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:32:40.040520+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:32:11.689448+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHF6 as Red List (low evidence)",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:32:11.678037+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phf6 has been classified as Red List (Low Evidence).",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:31:43.054839+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:28:17.487740+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDGFRB as ready",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:28:17.478247+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdgfrb has been classified as Green List (High Evidence).",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:28:00.174985+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDGFRB were changed from to Kosaki overgrowth syndrome, MIM# 616592",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:27:25.426354+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDGFRB were set to ",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:26:57.658931+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:26:26.783296+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25454926, 32291752, 30941910, 29226947; Phenotypes: Kosaki overgrowth syndrome, MIM# 616592; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:24:04.484902+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:NPR3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-04T13:23:18.283873+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four affected individuals from three unrelated families.; to: Four affected individuals from three unrelated families, however phenotype is more Marfanoid, rather than generalised overgrowth.",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:23:00.333599+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NPR3: Changed rating: AMBER",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:17:29.887225+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12 as ready",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:17:29.876992+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:17:25.712094+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from to Lujan-Fryns syndrome, MIM# 309520; Opitz-Kaveggia syndrome, MIM# 305450",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:16:51.630426+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:16:23.570450+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED12 as Amber List (moderate evidence)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:16:23.558622+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:15:53.458027+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Lujan-Fryns syndrome, MIM# 309520, Opitz-Kaveggia syndrome, MIM# 305450; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:12:14.867980+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT5B as Amber List (moderate evidence)",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:12:14.858874+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt5b has been classified as Amber List (Moderate Evidence).",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:11:45.666041+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Tendency towards taller height reported in some affected individuals.; to: Tendency towards taller height reported in some affected individuals, overgrowth is not a prominent/consistent feature.",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:11:26.956237+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KMT5B: Changed rating: AMBER",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:09:00.523137+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI3 as ready",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:09:00.497454+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:08:56.097652+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLI3 as Amber List (moderate evidence)",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:08:56.084114+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:08:25.427025+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:05:46.892401+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DIS3L2.",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:04:30.774861+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIS3L2 as ready",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:04:30.764878+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dis3l2 has been classified as Green List (High Evidence).",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:04:27.833908+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DIS3L2 were changed from to Perlman syndrome, MIM# 267000",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:03:58.491604+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DIS3L2 were set to ",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:03:29.227036+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DIS3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2020-07-04T13:03:00.019797+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22306653, 28328139, 29950491; Phenotypes: Perlman syndrome, MIM# 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2020-07-04T12:51:49.788313+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT2 as ready",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2020-07-04T12:51:49.778787+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt2 has been classified as Green List (High Evidence).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2020-07-04T12:51:44.196181+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AKT2 as Green List (high evidence)",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2020-07-04T12:51:44.186091+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt2 has been classified as Green List (High Evidence).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2020-07-04T12:50:29.729918+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKT2 was added\ngene: AKT2 was added to Overgrowth. Sources: Expert list\nMode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AKT2 were set to 21979934\nPhenotypes for gene: AKT2 were set to Hypoinsulinemic hypoglycemia with hemihypertrophy, MIM#\t240900\nMode of pathogenicity for gene: AKT2 was set to Other\nReview for gene: AKT2 was set to GREEN\nAdded comment: Three unrelated individuals reported with same de novo recurring missense variant, postulated to be activating, E17K. \nSources: Expert list",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2020-07-04T12:44:03.213935+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC9 as ready",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2020-07-04T12:44:03.204179+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc9 has been classified as Green List (High Evidence).",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2020-07-04T12:44:00.873717+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC9 were changed from to Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2020-07-04T12:43:32.573853+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCC9 were set to ",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2020-07-04T12:43:02.333753+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCC9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2020-07-04T12:42:30.401893+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 22610116, 22608503; Phenotypes: Hypertrichotic osteochondrodysplasia, MIM# 239850, Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2020-07-04T08:29:32.872969+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN11 were changed from LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines); Metachondromatosis, 156250 AD; Noonan syndrome 1, 163950 AD; Leukemia, juvenile myelomonocytic, somatic, 607785 to LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines); Noonan syndrome 1, 163950 AD",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:41:16.459716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRAS as ready",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:41:16.450565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mras has been classified as Green List (High Evidence).",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:40:30.380363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRAS as Green List (high evidence)",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:40:30.367903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mras has been classified as Green List (High Evidence).",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:40:06.937264+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRAS as Green List (high evidence)",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:40:06.924883+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mras has been classified as Green List (High Evidence).",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:38:17.219394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated individuals reported with de novo variants in this gene. Rated as LIMITED by ClinGen. \nSources: Expert list; to: Two unrelated individuals reported with de novo variants in this gene initially. Rated as LIMITED by ClinGen in 2018. Note 4 further individuals reported since.\r\nSources: Expert list",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:37:51.894090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRAS: Changed rating: GREEN; Changed publications: 28289718, 31173466, 31108500, 31173466",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:37:23.016130+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated individuals reported with de novo variants in this gene. Rated as LIMITED by ClinGen. \nSources: Expert list; to: Two unrelated individuals reported with de novo variants in this gene. Rated as LIMITED by ClinGen in 2018. Note 4 further individuals reported since.\r\nSources: Expert list",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-07-03T20:37:01.640011+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRAS: Changed publications: 28289718, 31173466, 31108500, 31173466",
"entity_name": "MRAS",
"entity_type": "gene"
}
]
}