HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=752",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=750",
"results": [
{
"created": "2022-09-19T18:54:43.142462+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ALDH7A1.",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:54:16.039670+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH7A1 as ready",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:54:16.023004+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh7a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:54:00.775493+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent, MIM# 266100",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:53:00.677361+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH7A1 were set to ",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:52:34.681553+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:51:57.280464+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ALDH7A1.",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:51:16.456052+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33200442; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:34:19.285533+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH7A1 as ready",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:34:19.276020+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh7a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:33:55.188770+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent, MIM# 266100",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:33:26.557664+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH7A1 were set to 33200442",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:32:53.063456+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH7A1 were set to ",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:32:15.702265+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:31:46.821286+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ALDH7A1.",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:31:38.057975+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33200442; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:31:28.050115+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH7A1 as ready",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:31:28.040620+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh7a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:30:54.059614+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ALDH7A1.",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:30:39.447701+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH7A1 were set to ",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:30:22.910367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ALDH7A1.",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:30:02.873333+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ALDH7A1.",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:29:51.995132+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33200442; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:27:54.730301+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH5A1 as ready",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:27:54.717126+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh5a1 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:27:51.701822+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:27:40.082027+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH5A1 as Red List (low evidence)",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:27:40.067019+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh5a1 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:27:29.251803+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH5A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:25:43.447274+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH3A2 as ready",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:25:43.437781+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:25:40.301216+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome to Sjogren-Larsson syndrome MIM#270200",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:25:28.314935+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH3A2 as Red List (low evidence)",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:25:28.303556+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:25:17.874505+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH3A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sjogren-Larsson syndrome MIM#270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:23:44.283996+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH18A1 as ready",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:23:44.274300+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh18a1 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:23:40.517883+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:23:24.850544+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:23:16.714537+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH18A1 as Red List (low evidence)",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:23:16.705351+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh18a1 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:23:05.299510+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIIA MIM#219150, Spastic paraplegia 9A, autosomal dominant MIM#601162, Spastic paraplegia 9B, autosomal recessive MIM#616586, Cutis laxa, autosomal dominant 3 MIM#616603, disorders of ornithine or proline metabolism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:20:24.724392+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALB as ready",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:20:24.715737+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alb has been classified as Red List (Low Evidence).",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:20:21.054471+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALB were changed from Analbuminemia to Analbuminemia, MIM# 616000",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:20:08.765155+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALB as Red List (low evidence)",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:20:08.740360+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alb has been classified as Red List (Low Evidence).",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:19:57.481548+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Analbuminemia, MIM# 616000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:17:17.902353+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALAS2 as ready",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:17:17.892496+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alas2 has been classified as Red List (Low Evidence).",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:17:14.365055+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALAS2 were changed from Anemia, sideroblastic, X-linked to Anaemia, sideroblastic, 1, MIM# 300751; Protoporphyria, erythropoietic, X-linked, MIM# 300752",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:17:02.725987+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALAS2 as Red List (low evidence)",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:17:02.714453+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alas2 has been classified as Red List (Low Evidence).",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:16:52.466675+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ALAS2.",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:16:42.578523+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anaemia, sideroblastic, 1, MIM# 300751, Protoporphyria, erythropoietic, X-linked, MIM# 300752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:12:39.263416+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AKR1D1.",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:12:16.781134+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AKR1D1.",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:12:00.874357+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AKR1D1.",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:11:41.019396+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AKR1D1.",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:11:26.191000+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: AKR1D1.\nTag treatable tag was added to gene: AKR1D1.",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2022-09-19T18:11:08.550453+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12970144, 20522910, 30373615; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:49:11.020883+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: XRCC4 was added\ngene: XRCC4 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XRCC4 were set to 32524007; 25728776; 25839420\nPhenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction (MIM#616541)\nReview for gene: XRCC4 was set to GREEN\nAdded comment: Prenatal-onset severe global growth failure consistently described \nSources: Literature",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:41:57.467401+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: XYLT1 was added\ngene: XYLT1 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XYLT1 were set to 35081921; 30554721; 24581741; 23982343\nPhenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome\nReview for gene: XYLT1 was set to GREEN\nAdded comment: Prenatally detected skeletal anomalies such as short long bones described. \nSources: Literature",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:34:17.043617+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: XYLT2 was added\ngene: XYLT2 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XYLT2 were set to 26027496; 26987875; 30891060; 34925453; 35186392\nPhenotypes for gene: XYLT2 were set to Spondyloocular syndrome MIM# 605822\nReview for gene: XYLT2 was set to AMBER\nAdded comment: Prenatal skeletal manifestations not described in the published literature. Early onset scoliosis and fractures reported, including in children <12 months old. \nSources: Literature",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:29:33.038825+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIRE as ready",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:29:33.026765+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aire has been classified as Green List (High Evidence).",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:29:27.351966+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIRE were changed from Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:29:04.029140+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: AIRE.\nTag treatable tag was added to gene: AIRE.",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:28:46.518841+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: 32557834; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:19:15.537234+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: AFND has multiple clinical features amenable to prenatal diagnosis including hypertelorism, nasal malformation, cleft palate, preaxial polydactyly, lower limb malformation, talipes equinovarus and CNS anomalies. Prenatal diagnosis has been reported in the published literature (PMID: 33776626). \nSources: Literature; to: AFND has multiple skeletal features amenable to prenatal diagnosis including preaxial polydactyly, mesomelic shortening and lower limb malformations. Prenatal diagnosis on the basis of skeletal features and other anomalies has been reported in the published literature (PMID: 33776626). \r\n\r\nSources: Literature",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:16:40.871731+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: YY1 was added\ngene: YY1 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: YY1 were set to PMID 28575647\nPhenotypes for gene: YY1 were set to Gabriele-de Vries syndrome - MIM#617557\nReview for gene: YY1 was set to GREEN\nAdded comment: Skeletal anomalies that may be detected prenatally reported including hemihypertrophy of the lower limb, distal arthrogryposis and craniosynostosis. \nSources: Literature",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:16:30.091694+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIFM1 as ready",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:16:30.075138+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aifm1 has been classified as Red List (Low Evidence).",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:16:25.048671+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIFM1 were changed from Cowchock syndrome to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:16:13.576528+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AIFM1 as Red List (low evidence)",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:16:13.567731+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aifm1 has been classified as Red List (Low Evidence).",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:13:10.379875+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIFM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:10:08.122536+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHI1 as ready",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:10:08.114749+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahi1 has been classified as Red List (Low Evidence).",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:10:04.662764+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHI1 were changed from Joubert syndrome-3 to Joubert syndrome 3, MIM# 608629",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:09:53.728332+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AHI1 were set to ",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:09:43.311102+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AHI1 as Red List (low evidence)",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:09:43.302516+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahi1 has been classified as Red List (Low Evidence).",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:09:30.525671+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AHI1: Rating: RED; Mode of pathogenicity: None; Publications: 15322546, 15467982, 16155189; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:07:45.491985+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGXT as ready",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:07:45.481217+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agxt has been classified as Green List (High Evidence).",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:07:42.083184+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGXT were changed from Hyperoxaluria, primary, type 1 to Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:07:31.507564+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGXT were set to ",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:06:44.162731+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag clinical trial tag was added to gene: AGXT.",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:06:05.830681+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AGXT.",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:05:04.852357+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AGXT.\nTag clinical trial tag was added to gene: AGXT.",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:04:27.729336+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: AGXT.\nTag treatable tag was added to gene: AGXT.\nTag clinical trial tag was added to gene: AGXT.",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-09-19T17:04:10.869363+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: None; Publications: 33789010; Phenotypes: Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-09-19T16:33:14.286451+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ZMPSTE24 was added\ngene: ZMPSTE24 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZMPSTE24 were set to 11923874; 22718200; 29794150; 29208544; 12913070; 27410998; 27409638; 15937076; 16671095; 22718200; 29794150; 24169522\nPhenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143\nReview for gene: ZMPSTE24 was set to GREEN\nAdded comment: Severity of disease correlates with residual enzyme activity. \r\n\r\nMandibuloacral dysplasia is the milder phenotype and is characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acroosteolysis, cutaneous atrophy, and lipodystrophy. Results from one hylomorphic allele in trans with a second hylomorphic or null allele. \r\n\r\nHutchinson-Guildford progeria syndrome, atypical: limited evidence of association, 2 cases reported. Intermediate between the two more common phenotypes. \r\n\r\nRestrictive dermatopathy, lethal: results from bi-allelic null alleles, tautness of the skin causes fetal akinesia or hypokinesia deformation sequence. 44 families reported, p.Leu362Phefs*18 identified in ~60%, founder effect in Mennonite and Hutterite populations. \nSources: Literature",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2022-09-19T16:01:16.219458+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.91",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ZSWIM6 was added\ngene: ZSWIM6 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZSWIM6 were set to PMID: 33776626\nPhenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis - MIM#603671\nReview for gene: ZSWIM6 was set to GREEN\nAdded comment: AFND has multiple clinical features amenable to prenatal diagnosis including hypertelorism, nasal malformation, cleft palate, preaxial polydactyly, lower limb malformation, talipes equinovarus and CNS anomalies. Prenatal diagnosis has been reported in the published literature (PMID: 33776626). \nSources: Literature",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2022-09-19T15:06:09.850750+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGA as ready",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2022-09-19T15:06:09.841298+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aga has been classified as Red List (Low Evidence).",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2022-09-19T15:06:06.089129+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGA were changed from Aspartylglucosaminuria to Aspartylglucosaminuria, MIM# 208400 MONDO:0008830",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2022-09-19T15:05:52.788191+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGA as Red List (low evidence)",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2022-09-19T15:05:52.779502+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aga has been classified as Red List (Low Evidence).",
"entity_name": "AGA",
"entity_type": "gene"
}
]
}