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{
"count": 220833,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1240",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1238",
"results": [
{
"created": "2021-08-13T16:10:34.963512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33652941; Phenotypes: Hypoplastic amelogenesis imperfecta; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SP6",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:09:24.196461+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SP6 as ready",
"entity_name": "SP6",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:09:24.187493+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sp6 has been classified as Green List (High Evidence).",
"entity_name": "SP6",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:09:21.653261+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SP6 were set to 18297738; 32167558; 18156176; 22676574",
"entity_name": "SP6",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:09:08.627878+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SP6 as Green List (high evidence)",
"entity_name": "SP6",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:09:08.617087+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sp6 has been classified as Green List (High Evidence).",
"entity_name": "SP6",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:08:59.562094+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SP6: Changed rating: GREEN",
"entity_name": "SP6",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:08:53.940419+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SP6: Rating: ; Mode of pathogenicity: None; Publications: 18297738, 32167558, 18156176, 22676574, 33652941; Phenotypes: Amelogenesis imperfecta; Mode of inheritance: None",
"entity_name": "SP6",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:05:13.628439+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMC2 as Green List (high evidence)",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:05:13.618070+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamc2 has been classified as Green List (High Evidence).",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:05:05.531695+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMC2 as ready",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:05:05.517911+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:05:03.179200+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMC2 were changed from Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, Herlitz type, 226700 to Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:04:50.731589+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:04:40.770003+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LAMC2: Changed publications: 26956061",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2021-08-13T16:04:17.529695+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:32:05.594160+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX26 as ready",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:32:05.585194+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex26 has been classified as Green List (High Evidence).",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:32:00.823142+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX26 as Green List (high evidence)",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:32:00.814304+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex26 has been classified as Green List (High Evidence).",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:31:52.698404+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX26 was added\ngene: PEX26 was added to Usher Syndrome. Sources: Expert Review\nMode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX26 were set to 28944237; 33926089; 28944237\nPhenotypes for gene: PEX26 were set to Heimler syndrome\nReview for gene: PEX26 was set to GREEN\nAdded comment: 5 families reported with Heimler syndrome phenotype. \nSources: Expert Review",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:30:18.613748+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX26 as ready",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:30:18.603775+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex26 has been classified as Green List (High Evidence).",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:30:16.686836+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX26 were changed from Peroxisome biogenesis disorder 7B, 614873; Peroxisome biogenesis disorder 7A (Zellweger), 614872; enamel dysplasia; Heimler syndrome; Amelogenesis imperfecta to Heimler syndrome; Amelogenesis imperfecta",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:29:47.594580+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX26 were set to 28944237",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:29:38.685278+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEX26 as Green List (high evidence)",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:29:38.674795+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex26 has been classified as Green List (High Evidence).",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:28:49.239512+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: 28944237, 33926089; Phenotypes: Heimler syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:24:48.892222+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGB4 as ready",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:24:48.882504+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb4 has been classified as Green List (High Evidence).",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:24:46.783860+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGB4 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia) to Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:24:30.112525+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITGB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:24:22.434541+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITGB4 as Green List (high evidence)",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:24:22.424188+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb4 has been classified as Green List (High Evidence).",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:23:38.409943+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:20:58.675910+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN19 as ready",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:20:58.666149+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn19 has been classified as Green List (High Evidence).",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:20:56.609549+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN19 were changed from Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC) to Hypomagnesaemia 5, renal, with ocular involvement, MIM# 248190; Amelogenesis imperfecta",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:20:37.564702+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN19 as Green List (high evidence)",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:20:37.555856+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn19 has been classified as Green List (High Evidence).",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:20:29.757344+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27530400; Phenotypes: Hypomagnesaemia 5, renal, with ocular involvement, MIM# 248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:13:59.740838+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN16 were changed from Hypomagnesemia 3, renal, MIM# 248250; Amelogenesis imperfecta to Hypomagnesaemia 3, renal, MIM# 248250; Amelogenesis imperfecta",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:13:51.034039+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLDN16: Changed phenotypes: Hypomagnesaemia 3, renal, MIM# 248250; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:13:37.758411+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN16 as ready",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:13:37.747962+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn16 has been classified as Green List (High Evidence).",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:13:34.803034+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN16 were changed from Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC) to Hypomagnesemia 3, renal, MIM# 248250; Amelogenesis imperfecta",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:13:13.766054+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN16 as Green List (high evidence)",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:13:13.756410+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn16 has been classified as Green List (High Evidence).",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:13:05.189918+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLDN16: Rating: GREEN; Mode of pathogenicity: None; Publications: 26426912; Phenotypes: Hypomagnesemia 3, renal, MIM# 248250; Mode of inheritance: None",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:09:03.047191+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C4orf26 as ready",
"entity_name": "C4orf26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:09:03.042263+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name: ODAPH",
"entity_name": "C4orf26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:09:03.013761+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c4orf26 has been classified as Green List (High Evidence).",
"entity_name": "C4orf26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:08:49.762205+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C4orf26.",
"entity_name": "C4orf26",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:06:27.851906+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMTN as ready",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:06:27.841615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amtn has been classified as Red List (Low Evidence).",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:06:18.597366+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: AMTN was changed from None to Other",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:06:15.622971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMTN was added\ngene: AMTN was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: AMTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AMTN were set to 27412008; 25715379; 26620968\nPhenotypes for gene: AMTN were set to Amelogenesis imperfecta, type IIIB\nMode of pathogenicity for gene: AMTN was set to Other\nReview for gene: AMTN was set to RED\nAdded comment: In a Costa Rican family segregating autosomal dominant hypomineralized amelogenesis imperfecta, Smith et al. (2016) identified a heterozygous deletion/insertion mutation in the amelotin gene that segregated with the phenotype in the family. The mutation was predicted to result in an in-frame deletion of 92 amino acids, shortening the protein from 209 to 117 amino acids. Mode of pathogenicity not established. Toxic gain of function proposed as Atmn KO and +/- mice did not recapitulate the human phenotype. \nSources: Expert Review",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:05:37.141791+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: AMTN was changed from to None",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:04:42.101254+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMTN as ready",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:04:42.091135+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amtn has been classified as Red List (Low Evidence).",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:04:39.767205+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMTN were changed from dominant hypomineralised AI; Amelogenesis imperfecta; ?Amelogenesis imperfecta, type IIIB, \t617607; Amelogenesis imperfecta, hypomaturation type to Amelogenesis imperfecta, type IIIB",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:04:30.939937+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMTN were set to 27412008",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:04:22.106478+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMTN as Red List (low evidence)",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:04:22.095704+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amtn has been classified as Red List (Low Evidence).",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:04:13.733582+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMTN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AMTN",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:02:28.415447+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR72 as ready",
"entity_name": "WDR72",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:02:28.405127+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr72 has been classified as Green List (High Evidence).",
"entity_name": "WDR72",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:02:17.575483+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR72 were changed from to Amelogenesis imperfecta, type IIA3, MIM# 613211",
"entity_name": "WDR72",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:00:59.742043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR72 were set to ",
"entity_name": "WDR72",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:00:36.662952+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR72 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR72",
"entity_type": "gene"
},
{
"created": "2021-08-13T11:00:16.986019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR72: Rating: GREEN; Mode of pathogenicity: None; Publications: 21196691, 27259663, 20938048, 26502894, 23293580, 25008349, 19853237; Phenotypes: Amelogenesis imperfecta, type IIA3, MIM# 613211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR72",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:59:34.963335+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR72 as ready",
"entity_name": "WDR72",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:59:34.953234+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr72 has been classified as Green List (High Evidence).",
"entity_name": "WDR72",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:59:32.787002+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR72 were changed from Amelogenesis Imperfecta, Type IIA3, 613211; Amelogenesis imperfecta, type IIA3, 613211; Amelogenesis Imperfecta, Recessive; Hypomaturation AI to Amelogenesis imperfecta, type IIA3, MIM# 613211",
"entity_name": "WDR72",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:59:18.726989+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR72: Rating: GREEN; Mode of pathogenicity: None; Publications: 21196691, 27259663, 20938048, 26502894, 23293580, 25008349, 19853237; Phenotypes: Amelogenesis imperfecta, type IIA3, MIM# 613211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR72",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:57:50.785854+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STIM1 as ready",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:57:50.772618+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.45",
"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": "2021-08-13T10:57:48.496300+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STIM1 were changed from Immunodeficiency 10, 612783 to Immunodeficiency 10, MIM# 612783; Hypomineralised amelogenesis imperfecta",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:57:26.756223+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STIM1 were set to 19420366; 26560041; 24621671; 22190180; 28732182",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:57:13.204425+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844; Phenotypes: Immunodeficiency 10, MIM# 612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:55:15.723024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC24A4 as ready",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:55:15.714000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc24a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:55:07.517860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC24A4 were changed from to Amelogenesis imperfecta, type IIA5, MIM# 615887",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:54:47.652759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC24A4 were set to ",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:54:28.303457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC24A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:54:09.791726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC24A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23375655, 24621671, 25442250, 24532815, 26502894, 27129268; Phenotypes: Amelogenesis imperfecta, type IIA5, MIM# 615887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:53:23.621234+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC24A4 as ready",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:53:23.612547+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc24a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:53:21.644978+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC24A4 were changed from Amelogenesis imperfecta, type IIA5, 615887; amelogenesis imperfecta (non-syndromic form); hypomaturation/hypomineralised amelogenesis imperfecta to Amelogenesis imperfecta, type IIA5, MIM# 615887",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:53:08.260631+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 3 families and a mouse model.; to: Multiple families and a mouse model.",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:53:00.864275+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC24A4: Changed publications: 23375655, 24621671, 25442250, 24532815, 26502894, 27129268",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:52:26.224807+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC24A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23375655, 24621671; Phenotypes: Amelogenesis imperfecta, type IIA5, MIM# 615887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:50:07.144192+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC13A5 as ready",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:50:07.133895+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:50:04.359249+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC13A5 were changed from Kohlsch tter-T nz syndrome(KTZS); Epileptic encephalopathy, early infantile, 25 615905; hypoplastic amelogenesis imperfecta to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:48:43.104900+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC10A7 as ready",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:48:43.094576+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc10a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:48:40.498849+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC10A7 were changed from short stature; amelogenesis imperfect hypo mineralised; skeletal dysplasia; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363; skeletal dysplasia and amelogenesis imperfecta; scoliosis to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MIM#618363)",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:48:02.763413+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROGDI as ready",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-08-13T10:48:02.752579+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rogdi has been classified as Green List (High Evidence).",
"entity_name": "ROGDI",
"entity_type": "gene"
}
]
}