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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=374",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=372",
"results": [
{
"created": "2024-10-05T21:31:44.240546+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 30584594: Additional compound het case (c.322G>T; p.D108Y and large deletion, spanning approximately 17.8 kb from chr16:30,362-48,162) reported a phenotype consistent with POLR3-related leukodystrophy. Reduced POLR3K RNA expressed in the patient compared to controls. Now 3 cases with paediatric onset have been reported with supporting functional evidence and similar phenotypes to the orthologous POLR3 genes.; to: https://doi.org/10.1155/2024/8807171: Additional compound het case (c.322G>T; p.D108Y and large deletion, spanning approximately 17.8 kb from chr16:30,362-48,162) reported a phenotype consistent with POLR3-related leukodystrophy. Reduced POLR3K RNA expressed in the patient compared to controls. Now 3 cases with paediatric onset have been reported with supporting functional evidence and similar phenotypes to the orthologous POLR3 genes.",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:31:26.525693+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR3K were set to 30584594; 33659930",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:30:27.576981+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR3K as Green List (high evidence)",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:30:27.567826+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3k has been classified as Green List (High Evidence).",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:29:53.848133+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR3K as Green List (high evidence)",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:29:53.834455+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3k has been classified as Green List (High Evidence).",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:29:14.209701+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR3K: Added comment: PMID 30584594: Additional compound het case (c.322G>T; p.D108Y and large deletion, spanning approximately 17.8 kb from chr16:30,362-48,162) reported a phenotype consistent with POLR3-related leukodystrophy. Reduced POLR3K RNA expressed in the patient compared to controls. Now 3 cases with paediatric onset have been reported with supporting functional evidence and similar phenotypes to the orthologous POLR3 genes.; Changed rating: GREEN; Changed publications: 30584594, 33659930, 30584594",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:16:03.852063+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF1 as ready",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:16:03.832700+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf1 has been classified as Green List (High Evidence).",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:16:00.251602+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLF1 were changed from MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:15:49.141094+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF1 were set to ",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:15:35.146688+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLF1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:14:43.676824+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KLF1: Added comment: Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia.; Changed publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881, 24443441, 25724378, 28361594, 34554218; Changed phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355, Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:13:36.894763+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLF1 were changed from Dyserythropoietic anaemia, congenital, type IV MIM#613673 to Dyserythropoietic anaemia, congenital, type IV MIM#613673; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:13:18.555835+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF1 were set to 28361594; 25724378",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:12:49.541948+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T21:12:27.807945+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24443441, 25724378, 28361594, 34554218; Phenotypes: Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:12:29.499646+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLF1 were changed from Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:12:06.065165+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF1 were set to 21055716; 33339573; 32815883; 32221653; 32032242; 31818881",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:11:26.447406+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:11:09.504828+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KLF1: Added comment: Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia.; Changed publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881, 24443441, 25724378, 28361594, 34554218; Changed phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355, Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:10:00.169065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLF1 were changed from Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:09:35.468486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF1 were set to 21055716; 33339573; 32815883; 32221653; 32032242; 31818881",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:09:12.358676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:08:47.498862+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KLF1: Added comment: Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia.; Changed publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881, 24443441, 25724378, 28361594, 34554218; Changed phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355, Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:08:06.106893+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLF1 were changed from Congenital Dyserythropoietic Anemia Type IV, MIM#613673; severe nonspherocytic hemolytic anemia to Congenital Dyserythropoietic Anemia Type IV, MIM#613673; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:07:20.356626+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF1 were set to 29300242; 25724378; 28265383",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:06:43.915494+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:06:06.031686+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24443441, 25724378, 28361594, 34554218; Phenotypes: Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:03:41.631837+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLF1 were changed from Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355 to Dyserythropoietic anaemia, congenital, type IVa, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:03:03.667133+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF1 were set to 21055716; 33339573; 32815883; 32221653; 32032242; 31818881",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:02:26.913846+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T18:01:50.269193+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KLF1: Added comment: Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia.; Changed publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881, 24443441, 25724378, 28361594, 34554218; Changed phenotypes: Dyserythropoietic anaemia, congenital, type IVa, MIM# 613673, MONDO:0013355, Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2024-10-05T12:03:47.293328+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.390",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: BBS10 as ready",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2024-10-05T12:03:47.269872+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.390",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: bbs10 has been classified as Green List (High Evidence).",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2024-10-05T12:03:43.358008+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.390",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: BBS10 were set to ",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2024-10-05T12:02:57.220674+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.389",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: BSCL2 as ready",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-10-05T12:02:57.190460+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.389",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: bscl2 has been classified as Green List (High Evidence).",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-10-05T12:02:52.962631+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.389",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: BSCL2 were changed from Encephalopathy, progressive, with or without lipodystrophy, 615924 (3) to Encephalopathy, progressive, with or without lipodystrophy (MIM#615924); Lipodystrophy, congenital generalized, type 2 (MIM#269700)",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-10-05T12:02:19.440949+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.388",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: BSCL2 were set to ",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-10-05T12:01:30.156646+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.387",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: C5 as ready",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2024-10-05T12:01:30.115637+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.387",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: c5 has been classified as Green List (High Evidence).",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:59:57.112056+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.387",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: C5 were set to ",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:59:14.714081+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.386",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CARS2 as ready",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:59:14.697431+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.386",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cars2 has been classified as Green List (High Evidence).",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:59:05.423964+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.386",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CARS2 were set to ",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:53:55.521059+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.385",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SGPL1 as ready",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:53:55.489612+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.385",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Green List (High Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:53:49.287476+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.385",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SGPL1 were set to ",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:53:26.144412+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.384",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36050428, 30517686, 35748945; Phenotypes: RENI syndrome MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:46:40.856005+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.384",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TSPYL1 as ready",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:46:40.850270+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.384",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Originally reported only in Amish community, founder variant \r\nsubsequently reported in 3 unrelated families, non amish - GREEN AT UPGRADE\r\n2 cohort studies looking for variants in this gene in SIDS cohorts but it's very rare and presents with more of a progressive neurological phenotype in the non Amish families",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:46:40.812228+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.384",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: tspyl1 has been classified as Red List (Low Evidence).",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:38:33.494086+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.384",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TSPYL1 were set to ",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:36:07.732290+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.383",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SLC38A8 as ready",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:36:07.720425+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.383",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: slc38a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:36:04.082638+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.383",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SLC38A8 were set to ",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:29:56.171778+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.382",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: NDUFS8 as ready",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:29:56.155933+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.382",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ndufs8 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:29:51.758650+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.382",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS8 were changed from Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222)",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:29:22.796207+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.381",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: NDUFS8 were set to ",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:28:25.693180+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.380",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: NGF as ready",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:28:25.663028+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.380",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ngf has been classified as Green List (High Evidence).",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:28:21.356234+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.380",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: NGF were set to ",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:27:27.983787+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.379",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: NECTIN1 as ready",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:27:27.956710+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.379",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: nectin1 has been classified as Green List (High Evidence).",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:27:24.454405+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.379",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: NECTIN1 were set to ",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:26:41.170586+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.378",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FGA as ready",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:26:41.155701+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.378",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fga has been classified as Green List (High Evidence).",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:25:52.755188+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.378",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FGB as ready",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2024-10-05T11:25:52.739588+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.378",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fgb has been classified as Green List (High Evidence).",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2024-10-05T09:06:43.833896+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.378",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FGG as ready",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2024-10-05T09:06:43.821787+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.378",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fgg has been classified as Green List (High Evidence).",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2024-10-05T09:06:39.603056+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.378",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FGG were set to ",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2024-10-05T09:03:45.361922+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.377",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GNPTAB as ready",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2024-10-05T09:03:45.339344+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.377",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gnptab has been classified as Green List (High Evidence).",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2024-10-05T09:03:41.842232+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.377",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: GNPTAB were changed from Mucolipidosis III alpha/beta, 252600 (3) to Mucolipidosis III alpha/beta MIM#252600; Mucolipidosis II alpha/beta MIM#252500",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2024-10-05T09:03:35.844606+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.376",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GNPTAB were set to ",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2024-10-05T09:02:16.746341+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.375",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GSS as ready",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2024-10-05T09:02:16.712924+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.375",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gss has been classified as Green List (High Evidence).",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:52:15.719876+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.375",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: HADHB as ready",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:52:15.709691+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.375",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: hadhb has been classified as Green List (High Evidence).",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:52:12.321655+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.375",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015 (3) to Mitochondrial trifunctional protein deficiency 2 MIM#620300",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:50:51.499898+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.374",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: HLCS as ready",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:50:51.474019+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.374",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: hlcs has been classified as Green List (High Evidence).",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:50:47.777913+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.374",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: HLCS were set to ",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:48:46.909656+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.373",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: HPS5 as ready",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:48:46.893442+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.373",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: hps5 has been classified as Green List (High Evidence).",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:46:48.938156+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.373",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: KCTD7 as ready",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:46:48.921182+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.373",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: kctd7 has been classified as Green List (High Evidence).",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:46:42.887494+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.373",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: KCTD7 were set to ",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:44:48.349910+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.372",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: LARS as ready",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:44:48.336623+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.372",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: lars has been classified as Green List (High Evidence).",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:44:44.018228+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.372",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: LARS were set to ",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:41:39.273453+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.371",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PNKP as ready",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:41:39.260008+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.371",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: pnkp has been classified as Green List (High Evidence).",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:41:34.290504+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.371",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: CMT phenotype is usually onset in 30's but childhood onset has been reported.",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:41:34.244833+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.371",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: PNKP were changed from Microcephaly, seizures, and developmental delay, 613402 (3) to Charcot-Marie-Tooth disease, type 2B2 MIM#605589; Ataxia-oculomotor apraxia 4 MIM#616267; Microcephaly, seizures, and developmental delay MIM#613402",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:34:15.864187+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.370",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PNKP were set to ",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2024-10-05T08:33:26.041201+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.369",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CYP27A1 as ready",
"entity_name": "CYP27A1",
"entity_type": "gene"
}
]
}