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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=602",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=600",
"results": [
{
"created": "2023-05-19T10:10:44.983495+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.239",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GIGYF2 were set to PMID: 18358451, 19449032",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2023-05-19T10:09:33.060750+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.238",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GIGYF2 as Red List (low evidence)",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2023-05-19T10:09:33.050111+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.238",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gigyf2 has been classified as Red List (Low Evidence).",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2023-05-19T10:08:47.102123+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.237",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GIGYF2: Rating: RED; Mode of pathogenicity: None; Publications: 18358451, 33239198, 25279164, 20060621, 19250854, 26152800; Phenotypes: {Parkinson disease 11} , OMIM # 607688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2023-05-19T10:07:03.470583+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.887",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GIGYF2 were set to PMID: 18358451, 19449032",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2023-05-19T10:05:31.216830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.886",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GIGYF2 as Red List (low evidence)",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2023-05-19T10:05:31.203963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.886",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gigyf2 has been classified as Red List (Low Evidence).",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2023-05-19T10:05:05.975823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.885",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GIGYF2: Rating: RED; Mode of pathogenicity: None; Publications: 18358451, 33239198, 25279164, 20060621, 19250854, 26152800; Phenotypes: {Parkinson disease 11} , OMIM # 607688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GIGYF2",
"entity_type": "gene"
},
{
"created": "2023-05-19T09:49:25.009172+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.142",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301491; Phenotypes: Adrenomyeloneuropathy, adult (MIM#300100); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:43:00.950758+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301649, 20301623, 21145000; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (MIM#613954); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:22:06.516998+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301623, 15372378; Phenotypes: Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980), Amyotrophic lateral sclerosis 8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VAPB",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:07:45.097169+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDC45 were set to 27374770",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:06:53.533388+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAN2B1 as ready",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:06:53.502039+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:06:49.484225+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAN2B1 as Green List (high evidence)",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:06:49.473353+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:05:54.042276+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL6ST as ready",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:05:54.027980+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il6st has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:05:49.287556+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL6ST as Amber List (moderate evidence)",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:05:49.279197+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il6st has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:03:29.439943+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO11 as ready",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:03:29.432191+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo11 has been classified as Green List (High Evidence).",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:03:24.956488+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO11 as Green List (high evidence)",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:03:24.942385+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo11 has been classified as Green List (High Evidence).",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:02:16.645159+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT6B as ready",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:02:16.621165+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6b has been classified as Green List (High Evidence).",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:02:11.960737+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KAT6B as Green List (high evidence)",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2023-05-18T16:02:11.950363+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6b has been classified as Green List (High Evidence).",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2023-05-18T15:05:18.985344+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301623, 21857683; Phenotypes: Amyotrophic lateral sclerosis type 15 (MONDO:0010459, MIM#300857); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-05-18T15:04:02.216635+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.230",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: UBQLN2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-05-18T15:03:45.865855+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.230",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Established gene identified in many individuals with ALS and/or dementia however there is conflicting evidence on the mode of pathogenicity.\r\n\r\nPMID: 21857683 – 3 unrelated individuals with missense mutations (P497S, P509S, P525S) causative of UBQLN2- related ALS and ALS/Dementia. \r\n\r\nPMID: 31319884 Reports on multiple articles conducting functional studies with evidence supporting that mutations in UBQLN2 impair the UPS pathway. \r\n\r\nPMID: 26152284 – In vivo mouse model that showed that UBQLN2 mutants cause neurodegeneration and aggregate formation however the gene-disease association link wasn’t identified. \r\n\r\nPMID: 25388785 – transgenic knockout rat model showed that mutant UBQLN2 cells lead to aggregation formation. Cresyl violet staining in the rats showed a reduction in neuron density which led to neurodegeneration. Neural impairment in the rats were confirmed by Golgi staining and was shown to have a distorted structure of cortex.; to: Established gene identified in many individuals with ALS and/or dementia however there is conflicting evidence on the mode of pathogenicity.\r\n\r\nPMID: 21857683 – 3 unrelated individuals with missense mutations (P497S, P509S, P525S) causative of UBQLN2- related ALS and ALS/Dementia. \r\n\r\nPMID: 31319884 Reports on multiple articles conducting functional studies with evidence supporting that mutations in UBQLN2 impair the UPS pathway. \r\n\r\nPMID: 26152284 – In vivo mouse model that showed that UBQLN2 mutants cause neurodegeneration and aggregate formation however the gene-disease association link wasn’t identified. \r\n\r\nPMID: 25388785 – transgenic knockout rat model showed that mutant UBQLN2 cells lead to aggregation formation. Cresyl violet staining in the rats showed a reduction in neuron density which led to neurodegeneration. Neural impairment in the rats were confirmed by Golgi staining and was shown to have a distorted structure of cortex.",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-05-18T14:50:17.054395+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301623, 25803835; Phenotypes: Amyotrophic lateral sclerosis 4 (MIM#616439, mMONDO:0011223); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2023-05-18T14:41:21.468587+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301761, 18309045, 19609911; Phenotypes: Amyotrophic lateral sclerosis 10, with or without FTD, Frontotemporal lobar degeneration, TARDBP-related (MIM#612069, MONDO: 0012790); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2023-05-18T14:37:39.926907+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26072523; Phenotypes: Amytrophic Lateral Sclerosis (ALS), Brown-Vialetto-van Laere syndrome 1 (MIM# 211530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2023-05-18T14:29:10.340176+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Well established gene causative of ALS - Phenotypic features typically seen with an early age of onset (within the first few years of life)\r\n\r\nPMID: 22864630\r\nHEK293 in vitro functional assay was conducted that showed the reduced transporter activity compared to the wildtype in the presence of a SLC52A2 mutation.; to: Well established gene with overlapping phenotypic features consistent with ALS - Phenotypic features typically seen with an early age of onset (within the first few years of life)\r\n\r\nPMID: 22864630\r\nHEK293 in vitro functional assay was conducted that showed the reduced transporter activity compared to the wildtype in the presence of a SLC52A2 mutation.",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2023-05-18T14:16:58.286973+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26072523, 22864630, 22740598, 20206331, 21110228; Phenotypes: Amyotrophic lateral sclerosis (ALS), Brown-Vialetto-van Laere syndrome 2 (MIM#614707) (BVVLS2); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2023-05-18T13:33:55.629654+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SIGMAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26078401; Phenotypes: ?Spinal muscular atrophy, distal, autosomal recessive, 2 (MIM#605726); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIGMAR1",
"entity_type": "gene"
},
{
"created": "2023-05-18T13:16:36.699350+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: 15106121, 9497266; Phenotypes: Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2023-05-18T12:49:40.549176+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20428114, 31838784, 27493188; Phenotypes: Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "OPTN",
"entity_type": "gene"
},
{
"created": "2023-05-18T12:43:26.737293+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: None; Publications: 19251628, 19251627; Phenotypes: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FUS",
"entity_type": "gene"
},
{
"created": "2023-05-18T12:02:16.925658+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924529, 28218388; Phenotypes: spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807, MIM#616867); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:50:16.892997+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.885",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NDUFA13",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:49:56.155472+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.868",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA13",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:44:22.533473+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1851",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: UNC13A as ready",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:44:22.520897+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1851",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: unc13a has been classified as Green List (High Evidence).",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:44:18.503842+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1851",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: UNC13A as Green List (high evidence)",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:44:18.492550+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1851",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: unc13a has been classified as Green List (High Evidence).",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:43:45.515761+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.188",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "commented on gene: UNC13A",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:43:18.904976+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1850",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: UNC13A was added\ngene: UNC13A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: UNC13A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UNC13A were set to 28192369\nPhenotypes for gene: UNC13A were set to neurodevelopmental disorder MONDO#0700092, UNC13A-related\nPenetrance for gene: UNC13A were set to Complete\nReview for gene: UNC13A was set to GREEN\ngene: UNC13A was marked as current diagnostic\nAdded comment: Total of 3 probands with de novo Pro814Leu\r\n\r\nClinvar (believed to be a different proband reported in Lipstein 2017 in whom regression was never observed) :\r\nDelayed speech and language development, Cerebellar ataxia, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Developmental regression\r\n\r\nVCGS internal cohort:\r\n GDD, speech apraxia, febrile seizures, tremor, aortic root aneurysm, dilatation of the renal pelvis and Arnold-Chiari type I malformation\r\n\r\nLipstein 2017:\r\nabnormal movements, developmental delay and autism \nSources: Literature",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:41:36.024434+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5229",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: UNC13A were changed from Congenital myasthenia; dyskinesia; autism; developmental delay to Congenital myasthenia; dyskinesia; autism; developmental delay; neurodevelopmental disorder MONDO#0700092, UNC13A-related",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:41:18.756454+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5229",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: UNC13A as Green List (high evidence)",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:41:18.731818+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5229",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: unc13a has been classified as Green List (High Evidence).",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:40:24.638060+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5228",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: UNC13A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO#0700092, UNC13A-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:37:41.350009+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.885",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: UNC13A were changed from Congenital myasthenia; dyskinesia; autism; developmental delay to Congenital myasthenia; dyskinesia; autism; developmental delay; neurodevelopmental disorder MONDO#0700092, UNC13A-related",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:37:08.056785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.884",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: UNC13A as Green List (high evidence)",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:37:08.049116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.884",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: unc13a has been classified as Green List (High Evidence).",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:36:25.543361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.883",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: UNC13A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO#0700092, UNC13A-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:25:36.203219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.883",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: RANBP2 were changed from to familial acute necrotizing encephalopathy MONDO:0011953",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:25:01.987405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.882",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: RANBP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:24:26.091034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.881",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RANBP2 were set to ",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:20:20.904227+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.61",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: 33639314, 27884935; Phenotypes: Meier-Gorlin syndrome 7, MIM#617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2023-05-18T10:04:39.188913+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.61",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: MAN2B1 was added\ngene: MAN2B1 was added to Craniosynostosis. Sources: Expert Review\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2B1 were set to 34429528; 33288889; 35242565\nPhenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM# 248500\nReview for gene: MAN2B1 was set to GREEN\nAdded comment: A total of 3 unrelated individuals are reported.\r\nPMID 34429528 reports a patient (case 1) with compound heterozygous MAN2B1 variants (c.1830+1G>C and c.2248C>T) who had craniosynostosis.\r\nPMID 33288889 reports a patient with recessive MAN2B1 variants (c.1055 T > C,p.Leu352Pro) who presented craniosynostosis.\r\nPMID 35242565 reports a patient (patient 3) with compound heterozygous MAN2B1 variants (c.2245C > T, p.Arg749Trp and c.2355G > A, p.Thr785*) who had craniosynostosis. \nSources: Expert Review",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2023-05-18T09:32:13.422304+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.61",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: IL6ST was added\ngene: IL6ST was added to Craniosynostosis. Sources: Expert Review\nMode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL6ST were set to 32566365; 28747427\nPhenotypes for gene: IL6ST were set to Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523\nReview for gene: IL6ST was set to AMBER\nAdded comment: PMID 32566365 describes a patient with homozygous IL6ST variants (p.R281Q) who had craniosynostosis. Abnormalities in nasofrontal sutures and reduced interdigitation of premaxillary sutures were seen in mouse models with homozygous R281Q variants in the IL6ST gene.\r\nPMID 28747427 report a patient with homozygous IL6ST variants (p.N404Y) who had craniosynostosis. \nSources: Expert Review",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2023-05-18T08:48:47.196469+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.61",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: FBXO11 was added\ngene: FBXO11 was added to Craniosynostosis. Sources: Expert Review\nMode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBXO11 were set to 34429528; 30057029\nPhenotypes for gene: FBXO11 were set to intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089\nReview for gene: FBXO11 was set to GREEN\nAdded comment: A total of 3 unrelated individuals are reported.\r\nPMID 34429528 reports a patient with a de novo FBXO11 variant (c.2731_2732insGACA, p.Thr911Argfs*5) who had craniosynostosis.\r\nPMID 30057029 reports 2 patients (patients 5 and 11) with monoallelic FBXO11 variants (c.2518T>C, p.Ser840Pro and c.1042−1G>C with unknown p.) who had sagittal and metopic craniosynostosis, respectively. \nSources: Expert Review",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2023-05-17T16:50:15.185226+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19118816, 20301623; Phenotypes: Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945, MIM#612577); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2023-05-17T16:48:35.502094+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15326253, 12062019; Phenotypes: {Amyotrophic lateral sclerosis, susceptibility to} - MIM# 105400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2023-05-17T16:11:53.968754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.880",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GATAD2A were set to https://doi.org/10.1016/j.xhgg.2023.100198; 17565372",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-17T16:11:29.607963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.879",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: https://doi.org/10.1016/j.xhgg.2023.100198 - Five unrelated individuals with a neurodevelopmental disorder identified with 3 missense & 2 LoF (4 de novo & 1 unknown inheritance). The shared clinical features with variable expressivity include global developmental delay (4/4), craniofacial dysmorphism (3/5), structural brain defects (2/3), musculoskeletal anomalies (3/5), vision/hearing defects (2/3), gastrointestinal/renal defects (2/3). Loss of function is the expected mechanism of disease. In vitro assays of one of the missense variants (p.Cys420Tyr) demonstrates disruption of GATAD2A integration with CHD3, CHD4, and CHD5\r\nPMID: 17565372 - null mouse model is embryonic lethal. \nSources: Literature; to: PMID: 37181331 - Five unrelated individuals with a neurodevelopmental disorder identified with 3 missense & 2 LoF (4 de novo & 1 unknown inheritance). The shared clinical features with variable expressivity include global developmental delay (4/4), craniofacial dysmorphism (3/5), structural brain defects (2/3), musculoskeletal anomalies (3/5), vision/hearing defects (2/3), gastrointestinal/renal defects (2/3). Loss of function is the expected mechanism of disease. In vitro assays of one of the missense variants (p.Cys420Tyr) demonstrates disruption of GATAD2A integration with CHD3, CHD4, and CHD5\r\nPMID: 17565372 - null mouse model is embryonic lethal. \r\nSources: Literature",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-17T16:11:04.997028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.879",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: GATAD2A: Changed publications: 37181331, 17565372",
"entity_name": "GATAD2A",
"entity_type": "gene"
},
{
"created": "2023-05-17T16:09:57.804998+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ANG: Rating: GREEN; Mode of pathogenicity: None; Publications: 17886298, 16501576, 18087731, 20301623; Phenotypes: Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753, MIM#611895); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2023-05-17T10:26:29.176771+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24562058, 11586298; Phenotypes: Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100, MONDO: MONDO:0008780); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:53:26.016124+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.61",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: KAT6B was added\ngene: KAT6B was added to Craniosynostosis. Sources: Expert Review\nMode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT6B were set to 33288889; 28696035\nPhenotypes for gene: KAT6B were set to SBBYSS syndrome, MIM# 603736\nReview for gene: KAT6B was set to GREEN\nAdded comment: Three unrelated patients are reported.\r\nPMID 33288889 reports a patient with a KAT6B variant (c.3769_3772del, p.Lys1258Glyfs*13) who was diagnosed with craniosynostosis.\r\nPMID 28696035 reports 2 patients with different monoallelic KAT6B variants (c.4572dupT, p.Thr1525Tyrfs*16 and c.4205_4206delCT, p.Ser1402Cysfs*5, respectively) who had sagittal craniosynostosis. \nSources: Expert Review",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:53:10.149076+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.61",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:38:42.436388+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK13 as ready",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:38:42.421844+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Green List (High Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:38:38.686516+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK13 as Green List (high evidence)",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:38:38.678000+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Green List (High Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:37:47.534087+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARID1B as ready",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:37:47.520736+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid1b has been classified as Green List (High Evidence).",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:37:42.555643+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARID1B as Green List (high evidence)",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:37:42.544241+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid1b has been classified as Green List (High Evidence).",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:37:00.828846+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFIX as ready",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:37:00.813234+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfix has been classified as Green List (High Evidence).",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:36:56.468070+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFIX as Green List (high evidence)",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:36:56.459965+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfix has been classified as Green List (High Evidence).",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:34:43.682203+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KAT6A were set to 30245513; 25728777",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:33:48.708138+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHDC1 as ready",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:33:48.695308+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahdc1 has been classified as Green List (High Evidence).",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:33:43.809224+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AHDC1 as Green List (high evidence)",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2023-05-16T16:33:43.792495+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahdc1 has been classified as Green List (High Evidence).",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2023-05-16T15:13:50.136028+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "changed review comment from: Three independent cases in one cohort study. \nSources: Literature; to: Three independent cases in one cohort study. \r\nSources: Literature",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-05-16T15:09:36.707357+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: ACTB was added\ngene: ACTB was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ACTB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ACTB were set to 33528536\nPhenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1 MIM#243310\nReview for gene: ACTB was set to GREEN\nAdded comment: Three independent cases in one cohort study. \nSources: Literature",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-05-16T14:37:35.680915+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Mackenroth",
"item_type": "entity",
"text": "gene: ADCY5 was added\ngene: ADCY5 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADCY5 were set to 33528536; 33098801\nPhenotypes for gene: ADCY5 were set to Dyskinesia with orofacial involvement MIM#606703\nMode of pathogenicity for gene: ADCY5 was set to Other\nReview for gene: ADCY5 was set to GREEN\nAdded comment: Multiple individuals reported in two different cohort studies analyzing children diagnosed with CP. Clinical overlap with childhood onset dystonia likely. Reported mutations in CP patients indicate gain-of-function mechanism, but loss-of-function mechanism has been described for allelic mutations. \nSources: Literature",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2023-05-16T13:29:14.464347+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.56",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "changed review comment from: A total of 4 unrelated individuals are reported.\r\nPMID 34429528 reports a patient with a monoallelic CDK13 variant (c.2563G>C, p.Asp855His) who had metopic synostosis.\r\nPMID 28807008 mentioned 2 patients with craniosynostosis were identified from 9 individuals with CDK13 variants. However, detailed information about the 2 patients is not provided.\r\nPMID 33288889 reported a patient with a CDK13 variant (c.2524 A > G, p.Asn842Asp) who presented with craniosynostosis. \nSources: Expert Review; to: A total of 4 unrelated individuals are reported.\r\nPMID 34429528 reports a patient with a monoallelic CDK13 variant (c.2563G>C, p.Asp855His) who had metopic synostosis.\r\nPMID 28807008 mentions 2 patients with craniosynostosis were identified from 9 individuals with CDK13 variants. However, detailed information about the 2 patients is not provided.\r\nPMID 33288889 reports a patient with a CDK13 variant (c.2524 A > G, p.Asn842Asp) who presented with craniosynostosis. \r\nSources: Expert Review",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2023-05-16T13:28:56.333080+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.56",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: CDK13 was added\ngene: CDK13 was added to Craniosynostosis. Sources: Expert Review\nMode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDK13 were set to 34429528; 28807008; 33288889\nPhenotypes for gene: CDK13 were set to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360\nReview for gene: CDK13 was set to GREEN\nAdded comment: A total of 4 unrelated individuals are reported.\r\nPMID 34429528 reports a patient with a monoallelic CDK13 variant (c.2563G>C, p.Asp855His) who had metopic synostosis.\r\nPMID 28807008 mentioned 2 patients with craniosynostosis were identified from 9 individuals with CDK13 variants. However, detailed information about the 2 patients is not provided.\r\nPMID 33288889 reported a patient with a CDK13 variant (c.2524 A > G, p.Asn842Asp) who presented with craniosynostosis. \nSources: Expert Review",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2023-05-16T12:37:18.384934+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.56",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: ARID1B was added\ngene: ARID1B was added to Craniosynostosis. Sources: Expert Review\nMode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARID1B were set to 36118902; 34429528; 27474218; 32530565\nPhenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1, MIM# 135900\nReview for gene: ARID1B was set to GREEN\nAdded comment: A total of 4 unrelated individuals are reported.\r\nPMID 36118902 reports a patient with an ARID1B variant (chr6:g.157431670_157431676 delCCAGTCA) who presented with sagittal craniosynostosis.\r\nPMID 34429528 identifies a patient (case 16) with an ARID1B variant (c.3594delinsCCCCCA) by screening 127 families classified with craniosynostosis.\r\nPMID 27474218 reported a patient (patient 10) with an ARID1B variant (c.1468_1472delTGGGC) who presented with craniosynostosis.\r\nPMID 32530565 listed a patient (OKI-047-1 M) harbouring an ARID1B variant (c.2277delC) who had trigonocephaly. \nSources: Expert Review",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2023-05-16T11:43:36.750675+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.56",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: NFIX was added\ngene: NFIX was added to Craniosynostosis. Sources: Expert Review\nMode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFIX were set to 33288889; 35997807\nPhenotypes for gene: NFIX were set to Malan syndrome, MIM# 614753\nReview for gene: NFIX was set to GREEN\nAdded comment: PMID 33288889 reports a patient with an NFIX variant (c.143 T > A, p.Met48Lys) who presented craniosynostosis.\r\nPMID 35997807: Of 25 patients with lambdoid craniosynostosis, 4 unrelated patients carried NFIX variants. The patient with the c.143 T > A (p.Met48Lys) variant of the NFIX gene has been reported by PMID 33288889. \nSources: Expert Review",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2023-05-16T10:59:21.449680+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.56",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33288889, 28696035; Phenotypes: SBBYSS syndrome, MIM# 603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2023-05-16T09:04:44.703167+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease; Tasmanian Clinical Genetics Service",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-05-15T18:02:30.528683+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAF1 were changed from Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365",
"entity_name": "NAF1",
"entity_type": "gene"
}
]
}