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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=901",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=899",
"results": [
{
"created": "2022-04-01T10:47:54.863037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, MIM# 234500; Hyperglycinuria, MIM# 138500; Iminoglycinuria, MIM# 242600",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2022-04-01T10:47:33.721444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A19 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2022-04-01T10:26:09.962175+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BNIP1 as Amber List (moderate evidence)",
"entity_name": "BNIP1",
"entity_type": "gene"
},
{
"created": "2022-04-01T10:26:09.952477+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bnip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BNIP1",
"entity_type": "gene"
},
{
"created": "2022-04-01T10:25:40.264389+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BNIP1 was added\ngene: BNIP1 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: BNIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BNIP1 were set to 35266227; 31344970\nPhenotypes for gene: BNIP1 were set to spondyloepiphyseal dysplasia MONDO:0016761\nReview for gene: BNIP1 was set to AMBER\nAdded comment: Two apparently unrelated cases with spondyloepiphyseal dysplasia from India were identified with the same variant (c.84+3A>T). The kindred coefficient comparison of the 2 cases exome data suggested they were unrelated, however there was a stretch of shared homozygosity suggesting remote consanguinity. ~80% aberrantly spliced BNIP1 pre-mRNAs, reduced BNIP1 mRNA level to ~80%, and BNIP1 protein level reduction by ~50% were detected in one of the cases fibroblasts. A block at the terminal stage of autolysosome formation and/or clearance in patient fibroblasts was suggested based on the data. A drosophila model of the BNIP1 orthologue Sec20 also demonstrated defective autolysosome formation. \nSources: Literature",
"entity_name": "BNIP1",
"entity_type": "gene"
},
{
"created": "2022-04-01T10:24:36.708980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12371",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BNIP1 as ready",
"entity_name": "BNIP1",
"entity_type": "gene"
},
{
"created": "2022-04-01T10:24:36.697542+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12371",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bnip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BNIP1",
"entity_type": "gene"
},
{
"created": "2022-04-01T10:23:07.162002+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12371",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BNIP1 as Amber List (moderate evidence)",
"entity_name": "BNIP1",
"entity_type": "gene"
},
{
"created": "2022-04-01T10:23:07.151075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12371",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bnip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BNIP1",
"entity_type": "gene"
},
{
"created": "2022-04-01T10:21:01.809833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12370",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BNIP1 was added\ngene: BNIP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BNIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BNIP1 were set to 35266227; 31344970\nPhenotypes for gene: BNIP1 were set to spondyloepiphyseal dysplasia MONDO:0016761\nReview for gene: BNIP1 was set to AMBER\nAdded comment: Two apparently unrelated cases with spondyloepiphyseal dysplasia from India were identified with the same variant (c.84+3A>T). The kindred coefficient comparison of the 2 cases exome data suggested they were unrelated, however there was a stretch of shared homozygosity suggesting remote consanguinity. ~80% aberrantly spliced BNIP1 pre-mRNAs, reduced BNIP1 mRNA level to ~80%, and BNIP1 protein level reduction by ~50% were detected in one of the cases fibroblasts. A block at the terminal stage of autolysosome formation and/or clearance in patient fibroblasts was suggested based on the data. A drosophila model of the BNIP1 orthologue Sec20 also demonstrated defective autolysosome formation. \nSources: Literature",
"entity_name": "BNIP1",
"entity_type": "gene"
},
{
"created": "2022-04-01T09:58:54.702023+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12369",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF4E as ready",
"entity_name": "EIF4E",
"entity_type": "gene"
},
{
"created": "2022-04-01T09:58:54.684015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12369",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif4e has been classified as Red List (Low Evidence).",
"entity_name": "EIF4E",
"entity_type": "gene"
},
{
"created": "2022-04-01T09:53:21.712003+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12369",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EIF4E were changed from to {Autism, susceptibility to, 19} MIM#615091",
"entity_name": "EIF4E",
"entity_type": "gene"
},
{
"created": "2022-04-01T09:33:35.812556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12368",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EIF4E were set to ",
"entity_name": "EIF4E",
"entity_type": "gene"
},
{
"created": "2022-04-01T09:30:51.887996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12367",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EIF4E as Red List (low evidence)",
"entity_name": "EIF4E",
"entity_type": "gene"
},
{
"created": "2022-04-01T09:30:51.877022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12367",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif4e has been classified as Red List (Low Evidence).",
"entity_name": "EIF4E",
"entity_type": "gene"
},
{
"created": "2022-04-01T09:30:28.868111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12366",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EIF4E: Rating: RED; Mode of pathogenicity: None; Publications: 19556253, 23263185, 23172145; Phenotypes: {Autism, susceptibility to, 19} MIM#615091; Mode of inheritance: Unknown",
"entity_name": "EIF4E",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:59:52.320650+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLL1 as ready",
"entity_name": "TLL1",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:59:52.307267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tll1 has been classified as Green List (High Evidence).",
"entity_name": "TLL1",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:59:42.796149+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TLL1 were changed from Atrial septal defect to Atrial septal defect 6, MIM# 613087",
"entity_name": "TLL1",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:59:19.052328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 6, MIM# 613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TLL1",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:58:15.829025+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TK2 as ready",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:58:15.818960+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tk2 has been classified as Green List (High Evidence).",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:57:59.102218+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TK2 were changed from to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:57:19.586851+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TK2 were set to ",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:56:42.342574+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:56:03.163998+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687801, 12391347, 12873860, 35286480, 35280287, 35094997; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:54:54.728805+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TK2 as ready",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:54:54.716140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tk2 has been classified as Green List (High Evidence).",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:54:44.177322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TK2 were changed from to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; MIM# 617069",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:54:23.734089+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TK2 were set to ",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:54:01.317458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:53:41.962816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687801, 12391347, 12873860, 35286480, 35280287, 35094997; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:53:10.575467+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TK2 as ready",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:53:10.558463+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tk2 has been classified as Green List (High Evidence).",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:53:07.534931+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TK2 were set to ",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:52:48.021438+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33457207; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:46:28.553353+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TJP2 as ready",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:46:28.543517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tjp2 has been classified as Green List (High Evidence).",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:46:17.203476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TJP2 were changed from to Cholestasis, progressive familial intrahepatic 4, MIM# 615878; Hypercholanemia, familial 1, MIM# 607748",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:45:55.433638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TJP2 were set to ",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:44:01.542055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TJP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:43:42.738408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614073, 25921221, 31696999, 12704386; Phenotypes: Cholestasis, progressive familial intrahepatic 4, MIM# 615878, Hypercholanemia, familial 1, MIM# 607748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:41:43.193098+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TJP2 as ready",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:41:43.182763+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tjp2 has been classified as Green List (High Evidence).",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:41:38.735513+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TJP2 were changed from to Cholestasis, progressive familial intrahepatic 4, MIM# 615878",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:41:10.634042+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TJP2 were set to ",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:39:26.946369+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMP3 as ready",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:39:26.933689+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timp3 has been classified as Green List (High Evidence).",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:39:19.933916+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TIMP3 were changed from Sorsby fundus dystrophy to Sorsby fundus dystrophy, MIM# 136900",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:39:07.545332+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TIMP3 were set to ",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:38:58.937992+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TIMP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:38:58.057732+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TIMP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:38:47.947345+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TIMP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7894485, 10854443, 32715858, 32666594, 31757977, 31369189, 30668888; Phenotypes: Sorsby fundus dystrophy, MIM# 136900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:35:42.291334+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMP3 as ready",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:35:42.281191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timp3 has been classified as Green List (High Evidence).",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:35:32.820991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TIMP3 were changed from to Sorsby fundus dystrophy, MIM# 136900",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:35:11.558603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TIMP3 were set to ",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:34:50.246980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TIMP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:34:31.707143+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TIMP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7894485, 10854443, 32715858, 32666594, 31757977, 31369189, 30668888; Phenotypes: Sorsby fundus dystrophy, MIM# 136900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:31:18.511371+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMM50 as ready",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:31:18.497952+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm50 has been classified as Green List (High Evidence).",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:31:12.270044+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM# 617698",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:30:31.948034+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TIMM50 were set to ",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:29:53.716761+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:29:09.646781+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 32369862, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM# 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:28:05.042443+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMM50 as ready",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:28:05.027085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm50 has been classified as Green List (High Evidence).",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:27:56.068155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM# 617698",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:27:35.727895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TIMM50 were set to ",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:27:14.558921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2022-04-01T06:26:55.998186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 32369862, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM# 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TIMM50",
"entity_type": "gene"
},
{
"created": "2022-04-01T01:27:37.875000+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: ZNF423: Rating: ; Mode of pathogenicity: None; Publications: 22863007, 32925911, 33323469; Phenotypes: Joubert syndrome 19, OMIM:614844, Nephronophthisis 14, OMIM:614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:40:23.879177+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMM44 as ready",
"entity_name": "TIMM44",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:40:23.870259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm44 has been classified as Red List (Low Evidence).",
"entity_name": "TIMM44",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:40:12.780258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TIMM44 as Red List (low evidence)",
"entity_name": "TIMM44",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:40:12.767430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm44 has been classified as Red List (Low Evidence).",
"entity_name": "TIMM44",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:39:54.703539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TIMM44: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TIMM44",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:37:27.891939+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TICAM1 as ready",
"entity_name": "TICAM1",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:37:27.875085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ticam1 has been classified as Green List (High Evidence).",
"entity_name": "TICAM1",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:37:12.729794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TICAM1 were changed from to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850",
"entity_name": "TICAM1",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:36:53.180065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TICAM1 were set to ",
"entity_name": "TICAM1",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:36:33.997934+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TICAM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TICAM1",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:36:15.445319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22105173, 26513235; Phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TICAM1",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:29:25.515883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTBK2 as ready",
"entity_name": "TTBK2",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:29:25.506427+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttbk2 has been classified as Green List (High Evidence).",
"entity_name": "TTBK2",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:29:17.603289+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTBK2 were changed from to Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464",
"entity_name": "TTBK2",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:29:00.255263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTBK2 were set to ",
"entity_name": "TTBK2",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:28:34.531495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTBK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TTBK2",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:28:14.096447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301723; Phenotypes: Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TTBK2",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:22:58.774205+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTLL5 as ready",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:22:58.753338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttll5 has been classified as Green List (High Evidence).",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:22:51.363574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTLL5 were changed from to Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:22:32.501931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTLL5 were set to ",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:22:10.321285+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTLL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:15:47.431209+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTR as ready",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:15:47.421408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttr has been classified as Green List (High Evidence).",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:15:37.354269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, MIM #105210; Carpal tunnel syndrome, familial, MIM# 115430",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:15:00.611087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTR were set to ",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:14:37.664167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TTR",
"entity_type": "gene"
}
]
}