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{
"count": 220771,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1592",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1590",
"results": [
{
"created": "2020-09-14T10:40:29.381275+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:39:36.774494+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG4 as ready",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:39:36.757537+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Green List (High Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:39:28.125660+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG4 as ready",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:39:28.116988+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig4 has been classified as Green List (High Evidence).",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:39:25.687610+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:38:59.702085+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIG4 were set to ",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:38:43.793420+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:38:02.128807+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:37:54.733450+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:37:39.698043+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIG4 were set to ",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:37:00.737606+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:36:38.019096+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:31:46.664516+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF23 as ready",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:31:46.653687+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif23 has been classified as Red List (Low Evidence).",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:31:07.585607+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF23 was added\ngene: KIF23 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: KIF23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF23 were set to 23570799\nPhenotypes for gene: KIF23 were set to Congenital dyserythropoietic anemia type III\nReview for gene: KIF23 was set to RED\nAdded comment: Single family reported only. \nSources: Expert list",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:23:50.076285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA11 as ready",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:23:50.066905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:23:41.887837+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA11 were changed from to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:23:22.096795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXA11 were set to ",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:22:45.275045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:22:19.910668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXA11 as Amber List (moderate evidence)",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:22:19.899029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:22:03.054526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 11101832, 16765069; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:21:20.173736+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXA11 as Amber List (moderate evidence)",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:21:20.164963+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:20:57.072925+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: HOXA11: Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm. Two families reported in 2000, segregating same variant. Some functional data. No further reports since.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:20:42.289739+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXA11 were set to 11101832",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:20:33.818757+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HOXA11: Changed rating: AMBER; Changed phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MM# 605432",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:20:14.891672+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HOXA11: Changed publications: 11101832, 16765069",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:11:40.598874+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA11 as ready",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:11:40.591084+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:11:21.078032+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA11 were changed from to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:11:04.115883+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXA11 were set to ",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:09:34.547352+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:09:17.158784+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXA11 as Amber List (moderate evidence)",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:09:17.148317+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:08:49.235060+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 11101832; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-09-14T10:02:21.988994+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:GP1BA from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-14T09:56:05.108843+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLRX5 as ready",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:56:05.100687+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glrx5 has been classified as Green List (High Evidence).",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:55:37.334514+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLRX5 were changed from to Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:55:11.383832+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLRX5 were set to ",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:54:45.408030+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLRX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:54:20.802556+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17485548, 25342667, 30660387; Phenotypes: Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:49:13.307830+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FECH as ready",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:49:13.299724+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fech has been classified as Red List (Low Evidence).",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:49:09.835877+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1, MIM# 177000",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:48:41.672203+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FECH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:48:16.443271+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FECH as Red List (low evidence)",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:48:16.434462+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fech has been classified as Red List (Low Evidence).",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:47:52.793669+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FECH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Protoporphyria, erythropoietic, 1, MIM# 177000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:34:59.494430+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC4 as ready",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:34:59.485752+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:34:57.115748+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC4 were changed from to Fanconi anemia, complementation group Q, MIM# 615272",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:34:28.943405+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC4 were set to ",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:34:08.369866+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:33:40.716632+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623386; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2020-09-14T09:15:03.042431+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDX41: Added comment: Approximately half of individuals reported in this cohort experienced cytopaenia in the years preceding the diagnosis of a malignancy.; Changed publications: 31698430, 31484648; Changed phenotypes: {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:37:30.536643+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALAS2 as ready",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:37:30.528035+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alas2 has been classified as Green List (High Evidence).",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:37:27.647648+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALAS2 were changed from to Anemia, sideroblastic, 1, MIM# 300751",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:37:03.342334+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALAS2 were set to ",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:36:38.304037+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALAS2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:36:15.405345+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10029606; Phenotypes: Anemia, sideroblastic, 1, MIM# 300751; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:33:54.133769+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416; Phenotypes: Reticular dysgenesis, MIM# 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:30:30.904926+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB7 as ready",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:30:30.894927+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb7 has been classified as Green List (High Evidence).",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:30:28.532092+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB7 were changed from to Anemia, sideroblastic, with ataxia, MIM# 301310",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:30:07.576832+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB7 were set to ",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:29:43.020233+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:29:16.159178+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2020-09-13T18:01:39.376714+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: XRCC1.",
"entity_name": "XRCC1",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:58:11.276529+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Ataxia is part of the phenotype. \nSources: Expert list; to: Ataxia is part of the phenotype. Two unrelated families and a mouse model.\r\nSources: Expert list",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:57:57.760799+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UCHL1: Changed publications: 28007905, 23359680, 11555633",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:23:06.793038+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed was removed from gene: TGM6.\nTag refuted tag was added to gene: TGM6.",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:22:49.231549+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGM6 as ready",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:22:49.221420+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgm6 has been classified as Red List (Low Evidence).",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:22:43.115105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGM6 were changed from to Spinocerebellar ataxia 35, MIM# 613908",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:22:28.227130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGM6 were set to ",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:22:11.046839+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:21:56.584712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TGM6 as Red List (low evidence)",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:21:56.573943+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgm6 has been classified as Red List (Low Evidence).",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:21:39.860261+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: TGM6.",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:21:26.818595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:21:15.223321+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGM6 were changed from to Spinocerebellar ataxia 35, MIM# 613908",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:21:14.524207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: None; Publications: 30670339, 32426513; Phenotypes: Spinocerebellar ataxia 35, MIM# 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:20:54.469475+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGM6 were set to ",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:20:27.416775+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:19:57.945039+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TGM6 as Red List (low evidence)",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:19:57.934354+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgm6 has been classified as Red List (Low Evidence).",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:19:25.650798+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: TGM6.",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:18:58.103949+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TGM6: Added comment: Recent publication refutes the association of this gene with SCA:\r\nIn a Chinese exome sequencing cohort, 8 families were identified with reported TGM6 variants sharing no features of SCA35. These variants were significantly more common in the East Asian gnomAD sub-population than in other ethnic groups (P < 0.0001). Gene constraint metrics showed that both missense and loss-of-function variants in TGM6 are likely to be tolerated and there is no regional constraint. Inflation analysis demonstrated that the cumulative frequency of TGM6 reported pathogenic variants is at least 111-fold inflated over disease prevalence of all autosomal dominant SCAs, indicating a high chance of misdiagnosis or low penetrance.; Changed publications: 30670339, 32426513",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:17:48.871922+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 35, MIM# 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:01:09.507777+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SVBP.",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:01:00.798781+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SVBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM #618569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:00:30.079190+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SVBP.",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-09-13T17:00:21.493754+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \nSources: Literature; to: 5 unrelated families with homozygous mutations in SVBP. Some shared the same founder variant, p.Q28*. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \r\nSources: Literature",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-09-13T16:59:55.281051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SVBP.",
"entity_name": "SVBP",
"entity_type": "gene"
},
{
"created": "2020-09-13T16:59:42.486378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \nSources: Literature; to: 5 unrelated families with homozygous mutations in SVBP. Some shared the same founder variant, p.Q28*. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \r\nSources: Literature",
"entity_name": "SVBP",
"entity_type": "gene"
}
]
}