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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1769",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1767",
"results": [
{
"created": "2020-06-17T11:08:01.118198+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXW11 were changed from Intellectual disability; developmental eye anomalies; digital anomalies to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Intellectual disability; developmental eye anomalies; digital anomalies",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2020-06-17T11:07:28.474891+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2020-06-17T11:07:19.948998+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXW11 were changed from Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Intellectual disability; developmental eye anomalies; digital anomalies to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Intellectual disability; developmental eye anomalies; digital anomalies",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2020-06-17T11:06:59.287233+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXW11 were changed from Intellectual disability; developmental eye anomalies; digital anomalies to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Intellectual disability; developmental eye anomalies; digital anomalies",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2020-06-17T11:06:13.651694+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2020-06-17T10:51:48.931235+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MTFMT as ready",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2020-06-17T10:51:48.917739+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtfmt has been classified as Green List (High Evidence).",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2020-06-17T10:51:44.957101+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MTFMT as Green List (high evidence)",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2020-06-17T10:51:44.947785+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtfmt has been classified as Green List (High Evidence).",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2020-06-17T10:51:34.890126+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTFMT was added\ngene: MTFMT was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTFMT were set to 26060307; 24461907\nPhenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15 MIM#614947; Mitochondrial complex I deficiency, nuclear type 27 MIM#618248\nReview for gene: MTFMT was set to GREEN\nAdded comment: Five unrelated cases reported with paediatric onset ataxia as a prominent feature of the condition. \nSources: Expert list",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2020-06-17T10:28:12.233334+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FA2H as ready",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2020-06-17T10:28:12.223302+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fa2h has been classified as Green List (High Evidence).",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2020-06-17T10:28:08.122112+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FA2H as Green List (high evidence)",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2020-06-17T10:28:08.109671+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fa2h has been classified as Green List (High Evidence).",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2020-06-17T10:27:58.794832+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FA2H was added\ngene: FA2H was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FA2H were set to 31135052\nPhenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive\tMIM#612319\nReview for gene: FA2H was set to GREEN\nAdded comment: Limb ataxia is reported as a feature of the condition in at least 13 cases with mainly paediatric onset. \nSources: Expert list",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2020-06-17T09:09:40.999356+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FDX2 as ready",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-06-17T09:09:40.987073+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fdx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-06-17T09:09:33.890514+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FDX2 as Amber List (moderate evidence)",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-06-17T09:09:33.881520+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fdx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-06-17T09:09:25.223237+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FDX2 was added\ngene: FDX2 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FDX2 were set to 30010796\nPhenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900\nReview for gene: FDX2 was set to AMBER\nAdded comment: Two apparently unrelated consanguineous Brazilian families reported with reversible leukoencephalopathy with a paediatric onset as a feature of the condition. \nSources: Expert list",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-06-17T08:57:30.171253+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COA7 as ready",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-06-17T08:57:30.162431+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: coa7 has been classified as Green List (High Evidence).",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-06-17T08:57:19.185373+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COA7 as Green List (high evidence)",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-06-17T08:57:19.172495+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: coa7 has been classified as Green List (High Evidence).",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-06-17T08:57:08.705980+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: At least 3 unrelated cases reported with leukoencephalopathy as a feature of the condition. \nSources: Expert list; to: At least 3 unrelated cases reported with leukoencephalopathy as a feature of the condition. Paediatric age of onset.\r\nSources: Expert list",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-06-17T08:55:13.215333+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COA7 was added\ngene: COA7 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COA7 were set to 27683825; 29718187\nPhenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387\nReview for gene: COA7 was set to GREEN\nAdded comment: At least 3 unrelated cases reported with leukoencephalopathy as a feature of the condition. \nSources: Expert list",
"entity_name": "COA7",
"entity_type": "gene"
},
{
"created": "2020-06-17T08:36:20.861037+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AP4B1 as ready",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-06-17T08:36:20.848908+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ap4b1 has been classified as Green List (High Evidence).",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-06-17T08:36:16.003596+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AP4B1 as Green List (high evidence)",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-06-17T08:36:15.991040+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ap4b1 has been classified as Green List (High Evidence).",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-06-17T08:36:07.258335+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AP4B1 was added\ngene: AP4B1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4B1 were set to 29193663\nPhenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive\tMIM#614066\nReview for gene: AP4B1 was set to GREEN\nAdded comment: White matter changes have been reported as a feature of the condition in at least ten unrelated cases with biallelic variants. The onset of the condition is paediatric. \nSources: Expert list",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:41:37.397675+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.51",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: PTPN11 as ready",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:41:37.382556+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.51",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Green List (High Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:23:07.977304+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.51",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: PTPN11 as Green List (high evidence)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:23:07.953150+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.51",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Green List (High Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:16:26.837090+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.50",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: PTPN11 was added\ngene: PTPN11 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN11 were set to 28650561\nPhenotypes for gene: PTPN11 were set to Noonan syndrome\nPenetrance for gene: PTPN11 were set to Complete\nMode of pathogenicity for gene: PTPN11 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: PTPN11 was set to GREEN\nAdded comment: Three unrelated individuals with PTPN11-related Noonan syndrome and craniosynostosis \nSources: Literature",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:14:20.785586+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.49",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: BRAF as ready",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:14:20.775814+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.49",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: braf has been classified as Green List (High Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:14:10.455042+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.49",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: BRAF as Green List (high evidence)",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:14:10.441490+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.49",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: braf has been classified as Green List (High Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:13:39.193246+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.48",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: BRAF was added\ngene: BRAF was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRAF were set to 28650561\nPhenotypes for gene: BRAF were set to CFC\nPenetrance for gene: BRAF were set to Complete\nMode of pathogenicity for gene: BRAF 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: BRAF was set to GREEN\nAdded comment: Four unrelated individuals with CFC and craniosynostosis \nSources: Literature",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:12:09.954401+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.47",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: KRAS as ready",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:12:09.941090+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.47",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: kras has been classified as Green List (High Evidence).",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:12:04.897728+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.47",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: KRAS as Green List (high evidence)",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:12:04.887775+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.47",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: kras has been classified as Green List (High Evidence).",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-06-16T22:10:39.166814+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.46",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: KRAS was added\ngene: KRAS was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRAS were set to 26249544; 28650561\nPhenotypes for gene: KRAS were set to Noonan syndrome\nPenetrance for gene: KRAS were set to Complete\nMode of pathogenicity for gene: KRAS 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: KRAS was set to GREEN\nAdded comment: 10% of all individuals with KRAS-related Noonan syndrome have craniosynostosis \nSources: Literature",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-06-16T21:59:04.486552+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.45",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: KAT6A as Green List (high evidence)",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2020-06-16T21:59:04.471320+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.45",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: kat6a has been classified as Green List (High Evidence).",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2020-06-16T21:58:41.932367+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.44",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: KAT6A as Green List (high evidence)",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2020-06-16T21:58:41.922906+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.44",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: kat6a has been classified as Green List (High Evidence).",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2020-06-16T21:58:34.438371+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.43",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: KAT6A as ready",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2020-06-16T21:58:34.426651+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.43",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: kat6a has been classified as Red List (Low Evidence).",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2020-06-16T21:55:08.717008+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-16T21:50:10.755117+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.42",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: KAT6A was added\ngene: KAT6A was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT6A were set to 30245513; 25728777\nPhenotypes for gene: KAT6A were set to Arboleda-Tham syndrome\nPenetrance for gene: KAT6A were set to Complete\nReview for gene: KAT6A was set to GREEN\nAdded comment: Low frequency association of craniosynostosis in Arboleda-Tham syndrome. Six individuals reported in two publications. \nSources: Literature",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2020-06-16T21:36:49.113494+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.41",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: FLNA as ready",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-06-16T21:36:49.097323+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.41",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-06-16T21:35:10.631062+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.41",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: FLNA as Green List (high evidence)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-06-16T21:35:10.618238+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.41",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-06-16T21:34:37.630015+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.40",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: FLNA was added\ngene: FLNA was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: FLNA were set to 25873011; 16835913; 21031081\nPhenotypes for gene: FLNA were set to otopalatodigital spectrum\nPenetrance for gene: FLNA were set to Complete\nMode of pathogenicity for gene: FLNA 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: FLNA was set to GREEN\nAdded comment: LOF variants cause PVNH; GOF variants cause OPD spectrum. Craniosynostosis is a low frequency association with FLNA-related OPD spectrum. Six unrelated probands reported in three publications. \nSources: Literature",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-06-16T20:55:09.694471+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARL6IP1 were set to 30980493; 24482476; 28471035",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-06-16T20:54:08.336822+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARL6IP1 were changed from ?Spastic paraplegia 61, autosomal recessive, MIM#615685 to Spastic paraplegia 61, autosomal recessive, MIM#615685",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-06-16T20:54:00.512111+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARL6IP1 as ready",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-06-16T20:54:00.498501+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl6ip1 has been classified as Green List (High Evidence).",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-06-16T20:18:09.904110+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NOTCH3 as Amber List (moderate evidence)",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-06-16T20:18:09.892593+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-06-16T20:17:21.636174+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NOTCH3 was added\ngene: NOTCH3 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Expert list\nMode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH3 were set to 22250206; 10356105; 27881154; 28271496\nPhenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310\nReview for gene: NOTCH3 was set to AMBER\nAdded comment: Migraine with aura is a common feature of CADASIL and the condition can be misdiagnosed as familial hemiplegic migraine. However, can only find one family reported with a confirmed NOTCH3 variant and a diagnosis of hemiplegic migraine (PMID: 22250206). \nSources: Expert list",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-06-16T18:17:29.959500+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-16T16:55:01.179993+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3089",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DCAF8 as Amber List (moderate evidence)",
"entity_name": "DCAF8",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:55:01.167782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3089",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dcaf8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCAF8",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:54:32.087849+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3088",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DCAF8 was added\ngene: DCAF8 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DCAF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DCAF8 were set to 24500646\nPhenotypes for gene: DCAF8 were set to Giant axonal neuropathy 2, autosomal dominant MIM#610100\nReview for gene: DCAF8 was set to AMBER\nAdded comment: A single large family segregating a missense variant and in vitro functional assays demonstrating the variant reduces the association of DCAF8 and DDB1, which is important in Cul4-ubiquitin E3 function \nSources: Expert list",
"entity_name": "DCAF8",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:52:36.100713+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DCAF8 as Amber List (moderate evidence)",
"entity_name": "DCAF8",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:52:36.088916+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dcaf8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCAF8",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:49:18.338429+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: DCAF8: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DCAF8",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:49:09.854639+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DCAF8: Rating: AMBER; Mode of pathogenicity: None; Publications: 24500646; Phenotypes: Giant axonal neuropathy 2, autosomal dominant MIM#610100; Mode of inheritance: None",
"entity_name": "DCAF8",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:47:34.864857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARL6IP1 as ready",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:47:34.852699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arl6ip1 has been classified as Green List (High Evidence).",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:46:31.251707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARL6IP1 as Green List (high evidence)",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:46:31.239414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3087",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arl6ip1 has been classified as Green List (High Evidence).",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:44:22.344951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3086",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARL6IP1 was added\ngene: ARL6IP1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL6IP1 were set to 24482476; 31272422; 30980493; 28471035\nPhenotypes for gene: ARL6IP1 were set to Spastic paraplegia 61, autosomal recessive MIM#615685\nReview for gene: ARL6IP1 was set to GREEN\ngene: ARL6IP1 was marked as current diagnostic\nAdded comment: At least 4 families reported with paediatric onset complicated spastic paraplegia and neuropathy. Supporting zebrafish model. \nSources: Expert list",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:39:20.390379+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARL6IP1 as ready",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:39:20.378861+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arl6ip1 has been classified as Green List (High Evidence).",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:39:11.327741+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 31272422, 30980493, 28471035; Phenotypes: Spastic paraplegia 61, autosomal recessive MIM#615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL6IP1",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:36:14.059935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3085",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to gene: RFC1.",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:24:30.104568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3085",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PMP2 as ready",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:24:30.094494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3085",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pmp2 has been classified as Green List (High Evidence).",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:20:00.720978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3085",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PMP2 as Green List (high evidence)",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:20:00.711754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3085",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pmp2 has been classified as Green List (High Evidence).",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2020-06-16T16:19:12.156598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3084",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PMP2 was added\ngene: PMP2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PMP2 were set to 26257172; 26828946; 27009151\nPhenotypes for gene: PMP2 were set to Charcot-Marie-Tooth disease, demyelinating, type 1G\tMIM#618279\nReview for gene: PMP2 was set to GREEN\nAdded comment: 4 unrelated families reported with missense variants, with supporting transgenic mouse and null zebrafish models. \nSources: Expert list",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2020-06-16T11:27:48.308801+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPRT1 were set to ",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-06-16T11:27:27.788041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HPRT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-06-16T10:36:22.613289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3081",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20176575; Phenotypes: HPRT-related gout (MIM# 300323), Lesch-Nyhan syndrome (MIM# 300322); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-06-16T09:39:11.590909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASTN2 were changed from to Intellectual disability",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2020-06-16T09:38:48.793071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASTN2 were set to ",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2020-06-16T09:38:27.367266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2020-06-16T09:38:07.261584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASTN2: Changed phenotypes: Intellectual disability",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2020-06-16T09:37:50.853910+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASTN2: Changed phenotypes: Intellectual disability, microcephaly",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2020-06-15T20:02:57.675837+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASCC1 as ready",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-06-15T20:02:57.642855+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ascc1 has been classified as Green List (High Evidence).",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-06-15T20:02:53.597941+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASCC1 as Green List (high evidence)",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2020-06-15T20:02:53.587626+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ascc1 has been classified as Green List (High Evidence).",
"entity_name": "ASCC1",
"entity_type": "gene"
}
]
}