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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1262",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1260",
"results": [
{
"created": "2021-07-23T13:36:05.560114+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2011585, 11133775, 10706888, 16972229, 16972229; Phenotypes: Chronic granulomatous disease 1, autosomal recessive, MIM# 233700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:27:04.058879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL25A1 were set to 25500261; 26486031",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:26:44.154167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL25A1 as Green List (high evidence)",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:26:44.141966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col25a1 has been classified as Green List (High Evidence).",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:26:26.090216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL25A1: Added comment: PMID: 2643702 - Patient: 273182 reported in DECIPHER, chet COL25A1 missense variants (listed as Likely Pathogenic). Phenotype includes Duane anomaly of the eye.\r\n\r\nPMID: 31875546 - Mouse models, including Col25a1 KO and muscle-specific KO mice showed a significant reduction in the number of motor neurons in the cranial nerve nuclei, including the oculomotor, trochlear, trigeminal, and facial motor nuclei. Abnormalities in motor innervation of muscles of the head, such as the extraocular and masseter muscles, were also observed\r\n\r\nPMID: 31875546 - Functional studies in human cell lines showed that the reported COL25A1 variants (G382R and G497X) impaired the interaction of COL25A1 with receptor protein tyrosine phosphatases, thereby reducing the ability to attract motor axons.; Changed rating: GREEN; Changed publications: 25500261, 26486031, 31875546, 26437029",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:24:48.705647+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL25A1 were set to 25500261; 26486031",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:24:31.434522+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL25A1 as Green List (high evidence)",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:24:31.424571+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col25a1 has been classified as Green List (High Evidence).",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-07-23T10:18:14.783148+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.2",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25500261, 26486031, 31875546, 26437029; Phenotypes: Fibrosis of extraocular muscles, congenital, 5, 610004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:49:18.289419+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LTBP1 as ready",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:49:18.277433+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp1 has been classified as Green List (High Evidence).",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:49:12.805626+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LTBP1 were changed from cutis laxa syndrome to Cutis laxa, autosomal recessive, type IIE MIM#619451",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:49:09.889613+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LTBP1 were changed from cutis laxa syndrome to Cutis laxa, autosomal recessive, type IIE MIM#619451",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:48:37.117880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LTBP1 were changed from cutis laxa syndrome to Cutis laxa, autosomal recessive, type IIE MIM#619451",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:48:18.492205+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LTBP1 were changed from cutis laxa syndrome to Cutis laxa, autosomal recessive, type IIE MIM#619451",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:47:16.311626+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LTBP1 were changed from cutis laxa syndrome to Cutis laxa, autosomal recessive, type IIE MIM#619451",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:46:27.364176+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LTBP1: Changed phenotypes: cutis laxa, autosomal recessive, type IIE MIM#619451",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:45:21.369899+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STX3 as ready",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:45:21.360217+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx3 has been classified as Green List (High Evidence).",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:45:19.116740+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STX3 were changed from Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446 to Retinal dystrophy and microvillus inclusion disease, MIM#619446",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:45:05.797480+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STX3 as Green List (high evidence)",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:45:05.781405+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx3 has been classified as Green List (High Evidence).",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:44:55.211026+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STX3: Changed phenotypes: Retinal dystrophy and microvillus inclusion disease, MIM#619446",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:44:45.502112+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STX3 was added\ngene: STX3 was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: STX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STX3 were set to 24726755; 29266534; 25358429; 29282386; 30909251; 29282386\nPhenotypes for gene: STX3 were set to Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446\nReview for gene: STX3 was set to GREEN\nAdded comment: At least 5 unrelated families reported. STX3 isoform B (STX3B) predominates in the retina, so mutations in the STX3 gene that affect both isoform A (STX3A) and STX3B cause both retinal and gastrointestinal disease (RDMVID), whereas mutations in STX3 affecting only the STX3A transcript cause only diarrhoea. \nSources: Expert Review",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:41:54.286699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STX3 were changed from Microvillus inclusion disease, MIM#619445 to Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:41:36.508924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 5 unrelated families reported.; to: At least 5 unrelated families reported.\r\n\r\nSTX3 isoform B (STX3B) predominates in the retina, so mutations in the STX3 gene that affect both isoform A (STX3A) and STX3B cause both retinal and gastrointestinal disease (RDMVID), whereas mutations in STX3 affecting only the STX3A transcript cause only diarrhoea.",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:41:29.069283+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STX3 were changed from Microvillus inclusion disease, MIM#619445 to Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:41:13.946976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STX3: Changed phenotypes: Microvillus inclusion disease, MIM#619445, Retinal dystrophy and microvillus inclusion disease, MIM#619446",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:40:24.791005+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STX3: Changed phenotypes: Microvillus inclusion disease, MIM#619445, Retinal dystrophy and microvillus inclusion disease, MIM#619446",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:39:54.168991+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 5 unrelated families reported.; to: At least 5 unrelated families reported.\r\n\r\nSTX3 isoform B (STX3B) predominates in the retina, so mutations in the STX3 gene that affect both isoform A (STX3A) and STX3B cause both retinal and gastrointestinal disease (RDMVID), whereas mutations in STX3 affecting only the STX3A transcript cause only diarrhoea.",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:38:36.579876+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STX3 were changed from Microvillus inclusion disease to Microvillus inclusion disease, MIM#619445",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:38:18.767432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STX3: Changed phenotypes: Microvillus inclusion disease, MIM#619445",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:37:53.496773+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STX3 were changed from Microvillus inclusion disease to Microvillus inclusion disease, MIM#619445",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-23T09:37:21.955834+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STX3: Changed phenotypes: Microvillus inclusion disease, MIM#619445",
"entity_name": "STX3",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:31:38.474841+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1QB as ready",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:31:38.464672+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qb has been classified as Green List (High Evidence).",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:27:38.999945+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C1QB were changed from to C1q deficiency, MIM# 613652",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:27:22.886770+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C1QB were set to 2894352; 17513176",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:27:02.297483+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C1QB were set to ",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:25:51.143215+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1QB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:25:20.664285+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C1QB: Rating: GREEN; Mode of pathogenicity: None; Publications: 2894352, 17513176; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:21:01.376136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1QA as ready",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:21:01.362946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qa has been classified as Green List (High Evidence).",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:20:52.903594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C1QA were changed from to C1q deficiency, MIM# 613652",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:20:33.911613+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C1QA were set to ",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:20:08.454949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1QA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:19:48.904754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9225968, 21654842, 9590289; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:18:55.314962+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1QA as ready",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:18:55.302829+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qa has been classified as Green List (High Evidence).",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:17:28.051911+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C1QA were changed from to C1q deficiency, MIM# 613652",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:16:57.923147+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C1QA were set to ",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:16:32.149469+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1QA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:16:11.388126+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1QA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2021-07-22T17:15:25.576900+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9225968, 21654842, 9590289; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:58:23.541932+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DKC1 as ready",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:58:23.527905+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Green List (High Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:58:18.962759+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DKC1 were changed from to Dyskeratosis congenita, X-linked MIM# 305000; Bone marrow failure, pulmonary & hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, immunodeficiency; aplastic anaemia; thrombocytopaenia; neurodevelopmental delay; cerebellar hypoplasia; opportunistic infections",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:57:37.414475+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIITA as ready",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:57:37.402470+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ciita has been classified as Green List (High Evidence).",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:57:30.543103+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DKC1 were set to ",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:57:22.955239+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIITA were changed from to Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920; varied ID; bronchiolitis; pneumonia; severe autoimmune cytopaenia; CD4 T-cell lymphopaenia; hypogammaglobulinemia; absence of antigen-induced immune response; chronic diarrhoea; recurrent respiratory infections; recurrent gastroenteritis; failure to thrive; liver/biliary tract disease",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:57:05.174078+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:56:59.345954+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CIITA were set to ",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:56:13.022277+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIITA as ready",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:56:13.012109+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ciita has been classified as Green List (High Evidence).",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:56:12.834332+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.229",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "changed review comment from: More than 20 affected unrelated individuals have been reported; multiple mouse models.\r\n\r\nHeterozygous non-frameshift deletion variants and missense variants have been identified in DKC1 in these individuals, including the most common p.Ala353Val. \r\n\r\nTypically presents with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, bone marrow failure and immunodeficiencies. \r\n\r\nPMID: 9663235 (1998) partial expression in heterozygous females displayed early pigmentary skin changes; to: More than 20 affected unrelated individuals have been reported; multiple mouse models.\r\n\r\nHeterozygous deletion variants and missense variants have been identified in DKC1 in these individuals, including the most common p.Ala353Val. \r\n\r\nTypically presents with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, bone marrow failure and immunodeficiencies. \r\n\r\nPMID: 9663235 (1998) partial expression in heterozygous females displayed early pigmentary skin changes",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:56:03.854010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CIITA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:56:02.642755+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIITA were changed from to Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920; varied ID; bronchiolitis; pneumonia; severe autoimmune cytopaenia; CD4 T-cell lymphopaenia; hypogammaglobulinemia; absence of antigen-induced immune response; chronic diarrhoea; recurrent respiratory infections; recurrent gastroenteritis; failure to thrive; liver/biliary tract disease",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:55:34.835546+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIITA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8402893, 9099848, 11862382, 28676232, 24789686, 20197681, 11466404, 15821736, 12910265; Phenotypes: Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920, varied ID, bronchiolitis, pneumonia, severe autoimmune cytopaenia, CD4 T-cell lymphopaenia, hypogammaglobulinemia, absence of antigen-induced immune response, chronic diarrhoea, recurrent respiratory infections, recurrent gastroenteritis, failure to thrive, liver/biliary tract disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:55:06.399596+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CIITA were set to ",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:54:26.330318+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CIITA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:54:04.659933+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD40LG as ready",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:54:04.649549+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd40lg has been classified as Green List (High Evidence).",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:52:46.083742+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD7 as ready",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:52:46.073243+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Green List (High Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:52:42.828465+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD7 were changed from to CHARGE syndrome MIM# 214800; Hypogonadotropic hypogonadism 5 with or without anosmia MIM# 612370; Kallmann syndrome; hypogonadotropic hypogonadism with or without anosmia (HH); Coloboma of the eye; heart anomaly; choanal atresia; intellectual disability; genital and ear anomalies, Deafness; Delayed pubertal development; CNS malformation; Cleft lip; SCID-like features; lymphopaenia; sever T-cell deficiency; hypogammaglobulinaemia",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:52:08.796141+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD7 were set to ",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:51:41.455702+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:48:09.005172+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD40LG were changed from to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Severe opportunistic infections (recurrent), idiopathic neutropaenia; dysgammaglobulinaemia hepatitis; cholangitis; cholangiocarcinoma; autoimmune blood cytopenias; haemolytic anaemia; thrombocytopaenia; diarrhoea; peripheral neuroectodermal tumours",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:47:15.712679+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD40LG as ready",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:47:15.697493+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd40lg has been classified as Green List (High Evidence).",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:47:12.488521+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD40LG were changed from Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Severe opportunistic infections (recurrent), idiopathic neutropaenia; dysgammaglobulinaemia hepatitis; cholangitis; cholangiocarcinoma; autoimmune blood cytopenias; haemolytic anaemia; thrombocytopaenia; diarrhoea; peripheral neuroectodermal tumours to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Severe opportunistic infections (recurrent), idiopathic neutropaenia; dysgammaglobulinaemia hepatitis; cholangitis; cholangiocarcinoma; autoimmune blood cytopenias; haemolytic anaemia; thrombocytopaenia; diarrhoea; peripheral neuroectodermal tumours",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:46:56.582397+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD40LG were changed from to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Severe opportunistic infections (recurrent), idiopathic neutropaenia; dysgammaglobulinaemia hepatitis; cholangitis; cholangiocarcinoma; autoimmune blood cytopenias; haemolytic anaemia; thrombocytopaenia; diarrhoea; peripheral neuroectodermal tumours",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:46:54.439004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD40LG were set to ",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:46:32.017388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD40LG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:46:03.842347+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD40LG were set to ",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:43:38.743664+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD40LG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:41:56.620305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD3G as ready",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:41:56.606339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3g has been classified as Green List (High Evidence).",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:41:43.490519+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD3G were changed from to Immunodeficiency 17, CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea.",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:41:42.952831+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD3G as ready",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:41:42.938532+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3g has been classified as Green List (High Evidence).",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:41:23.744607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD3G were set to ",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:41:02.523302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD3G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:40:02.050209+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD3G were changed from Immunodeficiency 17; CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; Bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea. to Immunodeficiency 17, CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; Bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea.",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:39:36.484407+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD3G were changed from to Immunodeficiency 17; CD3 gamma deficient MIM# 615607; immune deficiency; autoimmunity; failure to thrive; recurrent gastrointestinal infections; recurrent respiratory infections; autoimmune haemolytic anaemia; Bronchiolitis obliterans; low CD3 complex; partial T lymphocytopenia; intractable diarrhoea.",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:39:05.249309+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD3G were set to ",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:38:39.924871+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD3G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3G",
"entity_type": "gene"
},
{
"created": "2021-07-22T16:11:41.506021+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.216",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9590285, 24914498, 22664374, 10700698, 21931702, 15842668, 12400016, 15240872, 9663235; Phenotypes: Dyskeratosis congenita, X-linked MIM# 305000, Bone marrow failure, pulmonary & hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation, microcephaly, immunodeficiency, aplastic anaemia, thrombocytopaenia, neurodevelopmental delay, cerebellar hypoplasia, opportunistic infections; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-07-22T15:03:53.225493+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.216",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: CIITA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8402893, 9099848, 11862382, 28676232, 24789686, 20197681, 11466404, 15821736, 12910265; Phenotypes: Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920, varied ID, bronchiolitis, pneumonia, severe autoimmune cytopaenia, CD4 T-cell lymphopaenia, hypogammaglobulinemia, absence of antigen-induced immune response, chronic diarrhoea, recurrent respiratory infections, recurrent gastroenteritis, failure to thrive, liver/biliary tract disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIITA",
"entity_type": "gene"
}
]
}