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{
"count": 220403,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=799",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=797",
"results": [
{
"created": "2022-07-14T19:12:56.309184+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f8 has been classified as Red List (Low Evidence).",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:11:50.700635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KITLG were changed from Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697 to Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697; deafness; heterochromia iridis; hypopigmentation of the skin; hyperpigmentation of the skin; Waardenburg syndrome,MONDO:0018094, KITLG-related",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:11:30.424290+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KITLG were set to 26522471",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:11:05.092636+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KITLG as Green List (high evidence)",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:11:05.083263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kitlg has been classified as Green List (High Evidence).",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:10:16.180716+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN5 as ready",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:10:16.173273+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:10:10.813339+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN5 as Amber List (moderate evidence)",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:10:10.805262+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:09:41.428970+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN5 was added\ngene: CLDN5 was added to Brain Calcification. Sources: Literature\nMode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLDN5 were set to 35714222\nPhenotypes for gene: CLDN5 were set to alternating hemiplegia, MONDO:0016210, CLDN5-related\nMode of pathogenicity for gene: CLDN5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: CLDN5 was set to AMBER\nAdded comment: PMID: 35714222; Hashimoto, Y. et al. (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, NM_001363066.2:c.178G>A, p.(Gly60Arg).\r\n\r\nOne with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting. The other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis.\r\n\r\nCT scans of both showed brain calcifications and aberrant blood flow patterns. Transfected cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability when compared to wildtype. \nSources: Literature",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:09:05.917981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN5 as ready",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:09:05.906752+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:08:45.552454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN5 as Amber List (moderate evidence)",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:08:45.543974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:07:47.053081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN5 was added\ngene: CLDN5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLDN5 were set to 35714222\nPhenotypes for gene: CLDN5 were set to alternating hemiplegia, MONDO:0016210, CLDN5-related\nMode of pathogenicity for gene: CLDN5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: CLDN5 was set to AMBER\nAdded comment: PMID: 35714222; Hashimoto, Y. et al. (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, NM_001363066.2:c.178G>A, p.(Gly60Arg).\r\n\r\nOne with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting. The other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis.\r\n\r\nCT scans of both showed brain calcifications and aberrant blood flow patterns. Transfected cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability when compared to wildtype. \nSources: Literature",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:05:16.734804+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC155 as ready",
"entity_name": "CCDC155",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:05:16.726673+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc155 has been classified as Green List (High Evidence).",
"entity_name": "CCDC155",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:05:14.170037+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC155 were changed from Non-obstructive azoospermia; Premature ovarian insufficiency; Infertility disorder, MONDO:0005047, CCDC155-related to Premature ovarian insufficiency; Infertility disorder, MONDO:0005047, CCDC155-related",
"entity_name": "CCDC155",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:05:02.793199+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC155 as Green List (high evidence)",
"entity_name": "CCDC155",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:05:02.776801+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc155 has been classified as Green List (High Evidence).",
"entity_name": "CCDC155",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:58:41.322448+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:MAK from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-07-14T18:56:59.940219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSMB9 were set to 26524591",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:56:38.187159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSMB9 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:55:41.180358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMB9 as Green List (high evidence)",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:55:41.172152+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmb9 has been classified as Green List (High Evidence).",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:55:25.522457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMB9: Added comment: Two additional individuals with neonatal onset autoinflammatory syndrome and a mouse model. De novo recurrent missense G156D.; Changed rating: GREEN; Changed publications: 26524591, 34819510; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:53:07.605053+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSMB9 were set to 26524591",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:52:45.186719+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PSMB9 was changed from to Other",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:52:10.960627+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSMB9 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:51:46.023790+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMB9 as Green List (high evidence)",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:51:46.012393+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmb9 has been classified as Green List (High Evidence).",
"entity_name": "PSMB9",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:50:34.061667+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCK as ready",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:50:34.052878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hck has been classified as Amber List (Moderate Evidence).",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:50:21.693545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HCK as Amber List (moderate evidence)",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:50:21.681863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hck has been classified as Amber List (Moderate Evidence).",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:49:44.994903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HCK was added\ngene: HCK was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HCK were set to 34536415\nPhenotypes for gene: HCK were set to Autoinflammatory syndrome, MONDO:0019751, HCK-related\nMode of pathogenicity for gene: HCK was set to Other\nReview for gene: HCK was set to AMBER\nAdded comment: Single patient with supportive functional data. \nSources: Literature",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:49:01.624969+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCK as ready",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:49:01.616221+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hck has been classified as Amber List (Moderate Evidence).",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:47:53.230419+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCK were changed from Autoinflammation to Autoinflammatory syndrome, MONDO:0019751, HCK-related",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:46:31.826466+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HCK as Amber List (moderate evidence)",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:46:31.814703+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hck has been classified as Amber List (Moderate Evidence).",
"entity_name": "HCK",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:45:07.406485+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX21 as Amber List (moderate evidence)",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:45:07.399233+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx21 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:44:46.240042+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX21 as ready",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:44:46.232503+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx21 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:44:42.365012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported with disseminated disease following BCG vaccination, who subsequently developed severe persistent reactive airway disease and eosinophilia that responded to steroid treatment. Homozygous variant identified.\r\n\r\nAssociation with asthma and nasal polyps pertains to promoter SNPs.; to: Single individual reported with disseminated disease following BCG vaccination, who subsequently developed severe persistent reactive airway disease and eosinophilia that responded to steroid treatment. Homozygous variant identified. Functional data.\r\n\r\nAssociation with asthma and nasal polyps pertains to promoter SNPs.",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:44:31.910495+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBX21: Changed rating: AMBER",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:44:15.423195+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX21 as Amber List (moderate evidence)",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:44:15.412053+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx21 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:43:26.257282+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX21 were changed from Susceptibility to mycobacterial disease to Immunodeficiency 88, MIM# 619630; Susceptibility to mycobacterial disease",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:41:56.303417+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC25 were set to 27486780",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:41:42.707696+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC25 as Green List (high evidence)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:41:42.695585+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Green List (High Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:41:30.600019+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TTC25: Added comment: At least 7 families reported now.; Changed rating: GREEN; Changed publications: 27486780, 31765523, 33715250, 33746037, 34215651",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:41:07.088239+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC25 were set to 27486780",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:39:36.449882+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC25 as Green List (high evidence)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:39:36.441411+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Green List (High Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:39:09.729992+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TTC25: Added comment: At least 7 families reported now.; Changed rating: GREEN; Changed publications: 27486780, 31765523, 33715250, 33746037, 34215651",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:38:38.237798+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC25 were set to 27486780",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:38:12.909370+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC25 as Green List (high evidence)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:38:12.901796+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Green List (High Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:37:47.485188+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: None; Publications: 27486780, 31765523, 33715250, 33746037, 34215651; Phenotypes: Ciliary dyskinesia, primary, 35, OMIM:617092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:36:14.054469+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC25 were set to 27486780",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:35:39.196199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC25 as Green List (high evidence)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T18:35:39.184292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Green List (High Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-07-14T17:29:40.080337+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.29",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "changed review comment from: Homozygous founder variant in ADAT3 (p.V144M) reported in two cohort studies of children diagnosed with cerebral palsy (PMIDs 35076175; 34321325). \r\n\r\nTone abnormalities, including spasticity and hypotonia, are frequently reported in individuals from additional families with the same variant (PMID 26842963, 11 families, variant also called V128M) and are variable within families. Intellectual disability/developmental delay are always present and the majority with strabismus and growth failure. \nSources: Literature; to: Homozygous founder variant in ADAT3 (p.V144M) reported in two cohort studies of children diagnosed with cerebral palsy (PMIDs 35076175; 34321325). \r\n\r\nTone abnormalities, including spasticity and hypotonia, are frequently reported in individuals from additional families with the same variant (PMID 26842963, 11 families, variant also called V128M) and are variable within families. Intellectual disability/developmental delay are always present and the majority with strabismus and growth failure. \r\nSources: Literature",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2022-07-14T17:29:08.449482+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.29",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ADAT3 was added\ngene: ADAT3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAT3 were set to 35076175; 34321325\nPhenotypes for gene: ADAT3 were set to MIM #615286\nReview for gene: ADAT3 was set to GREEN\nAdded comment: Homozygous founder variant in ADAT3 (p.V144M) reported in two cohort studies of children diagnosed with cerebral palsy (PMIDs 35076175; 34321325). \r\n\r\nTone abnormalities, including spasticity and hypotonia, are frequently reported in individuals from additional families with the same variant (PMID 26842963, 11 families, variant also called V128M) and are variable within families. Intellectual disability/developmental delay are always present and the majority with strabismus and growth failure. \nSources: Literature",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2022-07-14T16:48:07.596419+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1G (MIM#604145), Cardiomyopathy, familial hypertrophic, 9 (MIM#613765), Muscular dystrophy, limb-girdle, autosomal recessive 10 (MIM#608807), Myopathy, myofibrillar, 9, with early respiratory failure (MIM#603689), Salih myopathy (MIM#611705), Tibial muscular dystrophy, tardive (MIM#600334); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2022-07-14T16:34:23.408607+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: VWF: Rating: AMBER; Mode of pathogenicity: Other; Publications: ; Phenotypes: von Willebrand disease, type 1 (MIM#193400), von Willebrand disease, type 3 (MIM#277480), von Willebrand disease, types 2A, 2B, 2M, and 2N (MIM#613554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2022-07-14T15:26:02.783895+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Langer mesomelic dysplasia (MIM#249700), Leri-Weill dyschondrosteosis (MIM#127300), Short stature, idiopathic familial (MIM#300582); Mode of inheritance: Other",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-07-14T15:16:01.282163+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia (MIM#304110); 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": "EFNB1",
"entity_type": "gene"
},
{
"created": "2022-07-14T15:11:49.861170+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120463, 26307567, 27473128; Phenotypes: Leukodystrophy, hypomyelinating, 12 (MIM#616683); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS11",
"entity_type": "gene"
},
{
"created": "2022-07-14T14:57:44.663643+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: None; Publications: 31681265; Phenotypes: Immunodeficiency, common variable, 2 (MIM#240500); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2022-07-14T14:50:20.537857+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: None; Publications: 25316788, 26290468, 25846674, 29066376; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2022-07-14T13:36:46.737211+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SERPINA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema due to AAT deficiency (MIM#613490), Emphysema-cirrhosis, due to AAT deficiency (MIM#613490), Hemorrhagic diathesis due to antithrombin Pittsburgh (MIM#613490); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-07-14T13:28:49.551015+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TRAC: Rating: RED; Mode of pathogenicity: None; Publications: 33909184, 21206088; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient (MIM#615387); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:56:07.907339+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: OCA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, brown oculocutaneous (MIM#203200), Albinism, oculocutaneous, type II (MIM#203200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:48:03.684088+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: F8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophilia A (MIM#306700); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:38:55.704307+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.53",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "changed review comment from: PMID: 35714222; Hashimoto, Y. et al. (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, NM_001363066.2:c.178G>A, p.(Gly60Arg). \r\nOne with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting.\r\nThe other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis. \r\nCT scans of both showed brain calcifications and aberrant blood flow patterns. \r\nTransfected HEK cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability of the blood brain barrier when compared to wildtype. \r\nSources: Literature; to: PMID: 35714222; Hashimoto, Y. et al. (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, NM_001363066.2:c.178G>A, p.(Gly60Arg). \r\nOne with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting.\r\nThe other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis. \r\nCT scans of both showed brain calcifications and aberrant blood flow patterns. \r\nTransfected cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability when compared to wildtype. \r\nSources: Literature",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:30:14.668726+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.53",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "changed review comment from: PMID: 35714222; Hashimoto, Y et al (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, c.178G>A, p.(Gly60Arg). \r\nOne with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting.\r\nThe other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis. \r\nCT scans of both showed brain calcifications and aberrant blood flow patterns. \r\nTransfected HEK cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability of the blood brain barrier when compared to wildtype. \nSources: Literature; to: PMID: 35714222; Hashimoto, Y. et al. (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, NM_001363066.2:c.178G>A, p.(Gly60Arg). \r\nOne with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting.\r\nThe other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis. \r\nCT scans of both showed brain calcifications and aberrant blood flow patterns. \r\nTransfected HEK cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability of the blood brain barrier when compared to wildtype. \r\nSources: Literature",
"entity_name": "CLDN5",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:23:52.433312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.138",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 35543077, 28504826, 19375057, 21368769; Phenotypes: deafness, heterochromia iridis, hypopigmentation of the skin, hyperpigmentation of the skin, Waardenburg syndrome,MONDO:0018094, KITLG-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:21:32.560810+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT7B as ready",
"entity_name": "WNT7B",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:21:32.549311+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt7b has been classified as Green List (High Evidence).",
"entity_name": "WNT7B",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:17:15.527778+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.132",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AUTS2 as ready",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:17:15.514191+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.132",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: auts2 has been classified as Green List (High Evidence).",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:16:47.623600+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.132",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AUTS2 as Green List (high evidence)",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:16:47.612111+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.132",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: auts2 has been classified as Green List (High Evidence).",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:16:23.708269+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.131",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: AUTS2 was added\ngene: AUTS2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: AUTS2 were set to PMID: 35802027; 34573342\nPhenotypes for gene: AUTS2 were set to Intellectual developmental disorder, autosomal dominant 26\tMIM#615834\nReview for gene: AUTS2 was set to GREEN\nAdded comment: PMID: 35802027 - human cerebral organoid model used to illustrate functionality of de novo missense variants.\r\nDescribes rat model who lacked a microcephaly presentation.\r\nProband has profound ID, microcephaly, epilepsy, cerebellar hypoplasia and dysmorphic features.\r\n\r\nPMID: 34573342 - microcephaly as a feature in 3/5 patients in an internal cohort. Review of the literature found 65% freq of microcephaly (34/52 patients) \nSources: Literature",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:16:06.051625+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFATC2 as ready",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:16:06.030794+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfatc2 has been classified as Red List (Low Evidence).",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:16:01.558238+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFATC2 as Red List (low evidence)",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:16:01.543475+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfatc2 has been classified as Red List (Low Evidence).",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:14:09.143278+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KITLG were changed from Deafness, autosomal dominant 69, unilateral or asymmetric, MIM#\t616697 to Waardenburg syndrome, MONDO:0018094, KITLG-related; Deafness, autosomal dominant 69, unilateral or asymmetric, MIM#\t616697",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:14:08.503546+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFATC2 as ready",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:14:08.491457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfatc2 has been classified as Red List (Low Evidence).",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:13:01.448586+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KITLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:12:42.765100+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KITLG as Green List (high evidence)",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:12:42.757140+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kitlg has been classified as Green List (High Evidence).",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:10:43.615050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFATC2 as Red List (low evidence)",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2022-07-14T12:10:43.604081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfatc2 has been classified as Red List (Low Evidence).",
"entity_name": "NFATC2",
"entity_type": "gene"
}
]
}