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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=315",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=313",
"results": [
{
"created": "2025-01-03T14:32:17.853347+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.990",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: dym has been classified as Green List (High Evidence).",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2025-01-03T14:32:04.037283+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.990",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: DYM were changed from Dyggve-Melchior-Clausen disease, 223800 (3) to Dyggve-Melchior-Clausen disease MIM#223800; Smith-McCort dysplasia MIM#607326",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2025-01-03T14:31:39.794411+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.989",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: DYM were set to ",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2025-01-03T14:31:18.642722+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.988",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: DYM: Rating: ; Mode of pathogenicity: None; Publications: 16326827, 38860472, 35477554; Phenotypes: Dyggve-Melchior-Clausen disease MIM#223800, Smith-McCort dysplasia MIM#607326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2025-01-03T14:27:37.879199+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.988",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: DKC1 as ready",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-01-03T14:27:37.861243+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.988",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Green List (High Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-01-03T14:27:28.513312+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.988",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: DKC1 were changed from Dyskeratosis congenita, X-linked, 305000 (3) to Dyskeratosis congenita, X-linked MIM#305000",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-01-03T14:27:11.802018+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.987",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: DKC1 were set to ",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-01-03T14:26:44.269368+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.986",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 20301779; Phenotypes: Dyskeratosis congenita, X-linked MIM#305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-01-03T14:23:13.563506+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.986",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: DCAF17 as ready",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2025-01-03T14:23:13.526507+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.986",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: dcaf17 has been classified as Green List (High Evidence).",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2025-01-03T14:23:07.575420+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.986",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome, 241080 (3) to Woodhouse-Sakati syndrome MIM#241080",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2025-01-03T14:22:54.988496+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.985",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: DCAF17 were set to ",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2025-01-03T14:22:35.706015+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542792, 38320940, 30409855, 35876063; Phenotypes: Woodhouse-Sakati syndrome MIM#241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2025-01-02T17:24:13.397639+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: TMEM107: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26518474, 26595381, 26123494; Phenotypes: Orofaciodigital syndrome XVI, MIM #617563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM107",
"entity_type": "gene"
},
{
"created": "2025-01-02T14:58:18.395693+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: TAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30189467, 10074494, 28161407, 36839544, 16087697, 10931128; Phenotypes: MHC class I deficiency 1, MIM #604571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAP1",
"entity_type": "gene"
},
{
"created": "2025-01-02T13:07:27.784433+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31908400, 32799588; Phenotypes: Leber congenital amaurosis 3, MIM #604232, Retinitis pigmentosa 94, variable age at onset, autosomal recessive, MIM #604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2025-01-02T12:39:34.373976+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20118786, 21203343, 26451371, 17220209, 32884076; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM #217400 (CDPD), Corneal endothelial dystrophy, autosomal recessive, MIM#217700 (CHED2); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2025-01-02T11:24:22.074757+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2025-01-02T11:24:13.486026+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM #217400, Corneal endothelial dystrophy, MIM #217700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2025-01-02T11:18:07.613437+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17952091, 19508970, 31423530, 38058750, 35934917; Phenotypes: Schneckenbecken dysplasia, MIM #269250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35D1",
"entity_type": "gene"
},
{
"created": "2025-01-02T10:30:17.729470+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34298585, 19412178; Phenotypes: Anemia, sideroblastic, 1, MIM #300751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2025-01-02T10:11:19.320311+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301789, 20083155, 15980113; Phenotypes: Allan-Herndon-Dudley syndrome, MIM #300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2024-12-31T16:52:42.231416+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10053026, 11462235, 22131869, 8225316, 26143542, 16969763, 14564670; Phenotypes: Retinitis pigmentosa 2, MIM #312600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "RP2",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:57:07.225082+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WWOX as ready",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:57:07.210176+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wwox has been classified as Green List (High Evidence).",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:57:03.878688+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WWOX were changed from Epileptic encephalopathy, early infantile, 28, 616211 (3) to Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322; Developmental and epileptic encephalopathy 28, MIM# 616211",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:56:52.429719+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WWOX were set to ",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:56:38.558618+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WWOX: Changed publications: 33916893",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:56:17.073425+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322, Developmental and epileptic encephalopathy 28, MIM# 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:54:30.477717+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPA as ready",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:54:30.469156+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpa has been classified as Green List (High Evidence).",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:54:26.970115+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XPA were changed from Xeroderma pigmentosum, group A, 278700 (3) to Xeroderma pigmentosum, group A , MIM#278700",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:54:10.315859+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A , MIM#278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:53:09.784281+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMPSTE24 as ready",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:53:09.768502+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmpste24 has been classified as Green List (High Evidence).",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:53:05.961128+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMPSTE24 were changed from Restrictive dermopathy, lethal, 275210 (3) to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; Restrictive dermopathy, lethal, MIM# 275210",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:52:53.264150+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZMPSTE24 were set to ",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:52:37.706136+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZMPSTE24: Changed phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, Restrictive dermopathy, lethal, MIM# 275210",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:52:06.765450+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZMPSTE24: Changed publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998, 27409638, 15937076, 16671095, 22718200, 29794150, 24169522",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:51:38.833771+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:50:23.585293+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF711 as ready",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:50:23.550855+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf711 has been classified as Green List (High Evidence).",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:50:19.887415+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF711 were changed from Mental retardation, X-linked 97, 300803 (3) to Intellectual developmental disorder, X-linked 97, MIM# 300803",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:50:06.462287+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 97, MIM# 300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:49:36.339269+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF711 were changed from Mental retardation, X-linked 97; OMIM #300803 to Intellectual developmental disorder, X-linked 97, MIM# 300803",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:48:56.746806+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 97, MIM# 300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:34:08.129205+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: Characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood.\r\n \r\nA 32kb deletion which included the three last exons of TRIB3 and the first four exons of RBCK1 was identified in one family, also had a nonsense mutation (PMID: 23104095).\r\n\r\nThe nature and localization of the underlying mutation might predict the phenotype, with N-terminal mutations mainly causing immunological dysfunction. In contrast, variants in the middle- or C-terminal regions were presumed to predominantly cause cardiomyopathy and neuromuscular symptoms. Further, it was suggested that truncating variants might generally result in more severe phenotypes than missense mutations. Frameshift mutations beyond the N-terminus\r\nof RBCK1 may lead to a combined phenotype including both myopathy and immunological dysfunction in single\r\nfamilies (PMID: 29260357).; to: Characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood.\r\n \r\nA 32kb deletion which included the three last exons of TRIB3 and the first four exons of RBCK1 was identified in one family, also had a nonsense mutation (PMID: 23104095).\r\n\r\nThe nature and localization of the underlying mutation might predict the phenotype, with N-terminal mutations mainly causing immunological dysfunction. In contrast, variants in the middle- or C-terminal regions were presumed to predominantly cause cardiomyopathy and neuromuscular symptoms. Further, it was suggested that truncating variants might generally result in more severe phenotypes than missense mutations. Frameshift mutations beyond the N-terminus of RBCK1 may lead to a combined phenotype including both myopathy and immunological dysfunction in single families (PMID: 29260357).",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2024-12-31T15:08:15.815633+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23104095, 23798481, 32187699, 23889995, 29260357; Phenotypes: Polyglucosan body myopathy 1 with or without immunodeficiency, MIM #615895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2024-12-31T14:48:03.557400+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14662654, 18783408, 30811539, 24033328, 22736936, 28831107; Phenotypes: Microphthalmia, syndromic 16, MIM #611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2024-12-31T14:34:39.883452+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: RARS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31814314, 28905880, 24777941; Phenotypes: Leukodystrophy, hypomyelinating, 9, MIM #616140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2024-12-31T12:04:26.137863+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25434005, 34761259, 29152164, 20159109; Phenotypes: Intellectual developmental disorder, X-linked 72, MIM #300271; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2024-12-31T10:41:47.873025+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: RAB33B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35477554, 34000439, 22652534, 28127940, 23042644, 34284742; Phenotypes: Smith-McCort dysplasia 2, MIM #615222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB33B",
"entity_type": "gene"
},
{
"created": "2024-12-30T17:12:23.123040+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10682309, 30632081, 11309366, 19267410, 8554069; Phenotypes: Metachromatic leukodystrophy due to SAP-b deficiency, MIM #249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2024-12-30T17:05:52.489407+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 37352919, 26548497, 22634753, 23474776, 25879317, 26070314, 27129361; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736, MONDO:0013874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2024-12-30T15:50:30.131836+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841, 36252909, 33596490, 38310242; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, MONDO:0014547, ?Deafness, autosomal recessive 94 - MIM#618434, MONDO:0032749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2024-12-30T15:44:51.199691+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28176794, 28041644, 20301301; Phenotypes: Ciliary dyskinesia, primary, 36, X-linked, MIM #300991; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2024-12-30T15:40:17.002603+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: None; Publications: 26429889, 26437028, 26437029, 36123719, 33240936; Phenotypes: Heterotaxy, visceral, 7, autosomal MIM#616749, MONDO:0014762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2024-12-30T15:10:25.147564+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301502, 9354791; Phenotypes: Opitz GBBB syndrome MIM#300000, MONDO:0017138; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2024-12-30T15:01:17.508412+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PGAP3",
"entity_type": "gene"
},
{
"created": "2024-12-30T14:55:12.339831+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763, 25227500, 30382371, 35154277; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588, Macular dystrophy with central cone involvement, MIM# 616170, MONDO:0014515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2024-12-30T14:51:20.454575+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301621, 9398847, 17055079; Phenotypes: Peroxisome biogenesis disorder 1A (Zellweger), MIM #214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2024-12-30T14:29:07.137298+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "changed review comment from: Strong gene-disease association, multiple unrelated families reported severe intellectual disability.; to: Strong gene-disease association, multiple unrelated families reported severe intellectual disability.",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2024-12-30T14:28:39.176709+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "changed review comment from: Strong gene-disease association, multiple unrelated families reported severe intellectual disability..; to: Strong gene-disease association, multiple unrelated families reported severe intellectual disability.",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2024-12-30T14:27:40.844056+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2024-12-30T14:26:05.506167+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2024-12-30T14:25:51.128470+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2024-12-30T14:16:59.775239+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14630978, 10528859, 23430938, 1546315; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866, Peroxisome biogenesis disorder 5B, MIM#614867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-12-30T13:43:07.454641+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15138885, 18164639, 26865159, 19924563, 34138529; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency, MIM #614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2024-12-30T13:22:38.868968+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "reviewed gene: KRT8: Rating: RED; Mode of pathogenicity: None; Publications: 15235035, 11372009, 12724528, 9011570; Phenotypes: Cirrhosis, cryptogenic, MIM#215600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2024-12-30T12:53:28.698918+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22791835, 25594860, 31461705, 23633440; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes, MIM #612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2024-12-30T12:43:52.204920+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "changed review comment from: X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. 25 affected males from three unrelated families have been reported. Heterozygous females are typically unaffected; however, some may experience mild behavior problems such as irritability or aggression. The NSDHL pathogenic variants c.455G>A, c.696_698delGAA, and c.1098dupT have been consistently associated with CK syndrome.\r\n\r\nOther phenotype associated with this gene is CHILD syndrome (MIM #308050) not reportable for Prepair1000 as is X-linked dominant, only affects females, lethal before birth in hemizygous males.; to: X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. 25 affected males from three unrelated families have been reported. Heterozygous females are typically unaffected; however, some may experience mild behavior problems such as irritability or aggression. The NSDHL pathogenic variants c.455G>A, c.696_698delGAA, and c.1098dupT have been consistently associated with CK syndrome.\r\n\r\nOther phenotype associated with this gene is CHILD syndrome (MIM #308050) not reportable for Prepair1000 as is X-linked dominant, only affects females, lethal before birth in hemizygous males.\r\n\r\nSee also GeneReviews PMID: 21290788",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2024-12-30T12:40:07.206153+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19842190, 21129721, 34091503, 23042573; Phenotypes: CK syndrome, MIM #300831; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2024-12-30T12:00:00.841786+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343, 39273648; Phenotypes: Desbuquois dysplasia 2, MIM#615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2024-12-30T10:56:08.632479+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27358180, 33144681; Phenotypes: Intellectual developmental disorder, X-linked 98, MIM #300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2024-12-30T10:38:43.331019+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11063730, 8985184, 9054950, 39194692; Phenotypes: Sialidosis, type I, MIM #256550, Sialidosis, type II, MIM #256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2024-12-27T18:13:32.944834+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, MIM #618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:22:56.083137+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO7 as ready",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:22:56.072003+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo7 has been classified as Green List (High Evidence).",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:22:51.929210+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO7 were changed from Parkinson disease 15, autosomal recessive, 260300 (3) to Parkinson disease 15, autosomal recessive, MIM#260300",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:22:40.387070+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBXO7 were set to ",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:21:46.104985+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC8 as ready",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:21:46.091796+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:21:42.452113+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC8 were changed from Cockayne syndrome, type A, 216400 (3) to Cockayne syndrome, type A, MIM#216400",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:21:25.765566+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A, MIM#216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:20:22.157053+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B2 as ready",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:20:22.133442+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:20:19.269352+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B2 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:20:07.881864+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2B2 were set to ",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:18:09.047819+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCDC2 as ready",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:18:09.033938+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcdc2 has been classified as Green List (High Evidence).",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:18:05.711958+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCDC2 were changed from Nephronophthisis 19, 616217 (3) to Nephronophthisis 19, MIM #616217; Sclerosing cholangitis, neonatal, MIM #617394",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:17:54.239342+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCDC2 were set to ",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:17:16.401477+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CWC27 as ready",
"entity_name": "CWC27",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:17:16.392497+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cwc27 has been classified as Green List (High Evidence).",
"entity_name": "CWC27",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:17:12.982375+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CWC27 were changed from Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410",
"entity_name": "CWC27",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:16:53.175964+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CWC27 were set to ",
"entity_name": "CWC27",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:16:24.271964+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CTSF.",
"entity_name": "CTSF",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:14:41.362822+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.969",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CYBA as ready",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:14:41.352583+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.969",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cyba has been classified as Green List (High Evidence).",
"entity_name": "CYBA",
"entity_type": "gene"
}
]
}