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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=589",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=587",
"results": [
{
"created": "2023-06-15T20:32:02.017885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.941",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29511323, 29882456, 37010288; Phenotypes: Hypomyelinating neuropathy, congenital, 3, OMIM:618186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2023-06-15T19:48:33.995634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.941",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30349098, 37010288; Phenotypes: Coffin-Siris syndrome 1, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2023-06-15T18:43:23.441033+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUFT1 were set to https://doi.org/10.1093/bjd/ljac026",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2023-06-15T18:43:06.181138+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUFT1: Changed publications: 36689522",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2023-06-15T18:42:39.327439+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUFT1 were set to https://doi.org/10.1093/bjd/ljac026",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2023-06-15T18:42:03.896762+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUFT1: Changed publications: 36689522",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2023-06-15T18:40:18.316704+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUFT1 were changed from Ectodermal dysplasia, MONDO:0019287, TUFT1-related to Woolly hair-skin fragility syndrome, MIM# 620415",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2023-06-15T18:39:18.200813+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUFT1: Changed phenotypes: Woolly hair-skin fragility syndrome, MIM# 620415",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2023-06-15T18:38:39.455354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUFT1 were changed from Ectodermal dysplasia, MONDO:0019287, TUFT1-related to Woolly hair-skin fragility syndrome, MIM# 620415",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2023-06-15T18:37:27.037538+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUFT1: Changed phenotypes: Woolly hair-skin fragility syndrome, MIM# 620415",
"entity_name": "TUFT1",
"entity_type": "gene"
},
{
"created": "2023-06-15T04:23:17.680665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.939",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388190, 37010288; Phenotypes: Sifrim-Hitz-Weiss syndrome, OMIM:617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2023-06-15T01:39:11.378702+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.196",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24755949, 26940150, 31278392; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2023-06-14T15:39:45.364692+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.166",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466870, 32738013, 34654017; Phenotypes: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2023-06-14T14:03:38.691622+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.166",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 28, autosomal recessive, MIM# 609340, MONDO:0012256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2023-06-13T08:56:35.305367+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.61",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31983240, 17060380, 17275750, 30588629; Phenotypes: Long QT syndrome 9 (MIM#611818); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2023-06-09T13:53:16.971435+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: MLC1 was added\ngene: MLC1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MLC1 were set to 34788679\nPhenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts MIM#604004\nReview for gene: MLC1 was set to AMBER\nAdded comment: One patient in a larger CP cohort harbouring compound heterozygous MLC1 mutations. Phenotypic overlap between MIM#604004 and CP, however, seems small, as MIM#604004 is a progressive neurological disorder with MRI abnormalities. \nSources: Literature",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2023-06-09T13:37:49.458739+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1864",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: STXBP1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 31855252; Phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2023-06-09T13:37:49.090772+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33528536, 34114234, 34531397; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A MIM#609260, Hereditary motor and sensory neuropathy VIA MIM#601152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-06-09T12:52:15.544590+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB2B as ready",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2023-06-09T12:52:15.535055+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2b has been classified as Green List (High Evidence).",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2023-06-09T12:52:03.596296+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB2B were set to PMID: 33528536",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2023-06-09T12:51:23.090926+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBB2B as Green List (high evidence)",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2023-06-09T12:51:23.084251+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2b has been classified as Green List (High Evidence).",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2023-06-08T21:21:12.847879+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 34077496; Phenotypes: Cortical dysplasia, complex, with other brain malformations MIM#610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2023-06-08T21:14:55.315169+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: WDR26 was added\ngene: WDR26 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDR26 were set to 33528536; 34788679\nPhenotypes for gene: WDR26 were set to Skraban-Deardorff syndrome\tMIM#617616\nReview for gene: WDR26 was set to GREEN\nAdded comment: Two large CP cohort studies with 3 individual patients harbouring de novo missense or nonsense mutations or whole gene deletions in WDR26. \nSources: Literature",
"entity_name": "WDR26",
"entity_type": "gene"
},
{
"created": "2023-06-08T21:10:09.963260+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: WWOX was added\ngene: WWOX was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WWOX were set to 34540776; 30361190; 33528536\nPhenotypes for gene: WWOX were set to Developmental and epileptic encephalopathy MIM#616211; Spinocerebellar ataxia MIM#6143223\nReview for gene: WWOX was set to GREEN\nAdded comment: 2 large CP cohort studies with 4 patients in total harbouring a biallelic WWOX mutation. In addition, case reports of patients with epileptic encephalopathy due to WWOX mutations show significant phenotypic overlap with CP \nSources: Literature",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2023-06-08T15:02:01.518485+10:00",
"panel_name": "Neuromuscular Superpanel",
"panel_id": 4092,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Neuromuscular Superpanel\nSet child panels to: Hereditary Spastic Paraplegia - paediatric; Dystonia - isolated/combined; Hereditary Neuropathy_CMT - isolated; Gastrointestinal neuromuscular disease; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Congenital Myasthenia; Ataxia - paediatric; Malignant Hyperthermia Susceptibility; Hereditary Spastic Paraplegia - adult onset; Ataxia - adult onset; Skeletal Muscle Channelopathies; Muscular dystrophy and myopathy_Paediatric; Rhabdomyolysis and Metabolic Myopathy; Arthrogryposis; Dystonia - complex; Hereditary Neuropathy - complex; Motor Neurone Disease; Paroxysmal Dyskinesia\nSet panel types to: Superpanel; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-06-08T14:35:29.326142+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.494",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MLH1 as Red List (low evidence)",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2023-06-08T14:35:29.314167+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.494",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mlh1 has been classified as Red List (Low Evidence).",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2023-06-08T14:33:54.018209+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.493",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MSH2 as Red List (low evidence)",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2023-06-08T14:33:54.008041+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.493",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: msh2 has been classified as Red List (Low Evidence).",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2023-06-08T14:33:03.465665+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.492",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MSH6 as Red List (low evidence)",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2023-06-08T14:33:03.271852+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.492",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: msh6 has been classified as Red List (Low Evidence).",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2023-06-08T14:30:27.159031+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ACTA2 as ready",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2023-06-08T14:30:27.150761+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acta2 has been classified as Green List (High Evidence).",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2023-06-08T14:30:19.505847+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACTA2 as Green List (high evidence)",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2023-06-08T14:30:19.495330+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acta2 has been classified as Green List (High Evidence).",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2023-06-08T14:17:03.733233+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACTA2 was added\ngene: ACTA2 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTA2 were set to 29300374\nPhenotypes for gene: ACTA2 were set to multisystemic smooth muscle dysfunction syndrome MONDO:0013452\nMode of pathogenicity for gene: ACTA2 was set to Other\nReview for gene: ACTA2 was set to GREEN\ngene: ACTA2 was marked as current diagnostic\nAdded comment: Hyperintense periventricular white matter lesions were present in 95% (21/22) of smooth muscle dysfunction syndrome cases with missense variants involving Arg179. Age of diagnosis varied from infancy to adulthood. \nSources: Literature",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2023-06-08T13:12:52.709347+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "edited their review of gene: MAP2K1: Changed rating: GREEN",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2023-06-08T13:11:33.708507+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP2K1 were set to 33528536\nPhenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome MIM#615279\nAdded comment: Four individual cases in one large CP cohort study. All of them missense and confirmed de novo. Note that the c.A389G,p.Y130C mutation affected 3/4 patients and seems to be a recurrent mutation. This mutation has also been described in patients with cardiofaciocutanuous syndrome. \nSources: Literature",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2023-06-08T13:05:41.380347+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 25666757; Phenotypes: Dystonia 28, childhood-onset MIM#617284, Intellectual developmental disorder, autosomal dominant MIM#619934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2023-06-08T12:59:56.001212+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: KCNT1 was added\ngene: KCNT1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNT1 were set to 33528536; 34788679\nPhenotypes for gene: KCNT1 were set to Developmental and epileptic encephalopathy MIM#614959\nReview for gene: KCNT1 was set to GREEN\nAdded comment: 4 cases in two large CP cohort studies. All of them are missense mutations, mostly confirmed de novo mutations. \nSources: Literature",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2023-06-08T12:55:16.714616+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: KCNB1 was added\ngene: KCNB1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNB1 were set to 33528536; 34788679\nPhenotypes for gene: KCNB1 were set to Developmental and epileptic encephalopathy MIM#616056\nReview for gene: KCNB1 was set to AMBER\nAdded comment: One case each in two large CP cohort studies with heterozygous missense mutations, only one of the mutations confirmed de novo. \nSources: Literature",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2023-06-08T12:43:45.534816+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: KAT6A was added\ngene: KAT6A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT6A were set to 33528536\nPhenotypes for gene: KAT6A were set to Arboleda-Tham syndrome MIM#616268\nReview for gene: KAT6A was set to GREEN\nAdded comment: Several cases in a large CP cohort study with Loss of function mutations in KAT6A, all mutations confrimed de novo \nSources: Literature",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2023-06-08T12:41:32.847149+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: IRF2BPL was added\ngene: IRF2BPL was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IRF2BPL were set to 30057031; 30166628\nPhenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MIM#618088\nReview for gene: IRF2BPL was set to GREEN\nAdded comment: Two large IRF2BPL cohort studies, in one study (PMID:30166628) two children had previously been described with different forms of CP and later found to have a frameshift IRF2BPL mutation. In the other publication (PMID:3005703) there was significant phenotypic overlap with spasticity and non-progressive movemetn disorder, even though no formal CP diagnosis had been made. \nSources: Literature",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2023-06-08T12:31:01.443384+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.86",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536; Phenotypes: Intellectual developmental disorder MIM#09530; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2023-06-08T10:54:38.908736+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GFAP as ready",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2023-06-08T10:54:38.898305+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gfap has been classified as Green List (High Evidence).",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2023-06-08T10:54:37.241444+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GFAP as Green List (high evidence)",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2023-06-08T10:54:37.230211+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gfap has been classified as Green List (High Evidence).",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2023-06-08T10:54:23.649844+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GFAP was added\ngene: GFAP was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GFAP were set to 34146839\nPhenotypes for gene: GFAP were set to Alexander disease MONDO:0008752\nReview for gene: GFAP was set to GREEN\ngene: GFAP was marked as current diagnostic\nAdded comment: Spasticity was a feature of the condition in 23.9% of an infantile cohort (n=135) with a clinical and genetic diagnosis of Alexander disease \nSources: Expert list",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2023-06-08T08:54:49.426749+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.125",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37277074; Phenotypes: Hypogammaglobulinaemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2023-06-07T16:06:40.366695+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RYR1 as ready",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2023-06-07T16:06:40.356280+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Green List (High Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2023-06-07T16:06:23.120847+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RYR1 as Green List (high evidence)",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2023-06-07T16:06:23.109626+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Green List (High Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2023-06-07T16:06:10.375437+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RYR1 were set to 30842289; 33458580\nPhenotypes for gene: RYR1 were set to calf predominant distal myopathy; distal myopathy MONDO:0018949\nReview for gene: RYR1 was set to GREEN\ngene: RYR1 was marked as current diagnostic\nAdded comment: Distal myopathy has been reported as a presenting feature of both monoallelic and biallelic RYR1-related myopathy \nSources: Literature",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2023-06-07T16:00:18.007866+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NEB as ready",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2023-06-07T16:00:17.992732+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: neb has been classified as Green List (High Evidence).",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2023-06-07T16:00:05.259359+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NEB as Green List (high evidence)",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2023-06-07T16:00:05.244632+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: neb has been classified as Green List (High Evidence).",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:59:49.651465+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NEB was added\ngene: NEB was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEB were set to 21724397; 17525139; 33458580; 25205138\nPhenotypes for gene: NEB were set to distal myopathy MONDO:0018949\nReview for gene: NEB was set to GREEN\ngene: NEB was marked as current diagnostic\nAdded comment: Distal myopathy has been reported as a presenting feature, mainly in cases with biallelic missense variants. \nSources: Literature",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:51:19.934703+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: OPDM1 as ready",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2023-06-07T15:51:19.924832+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: opdm1 has been classified as Green List (High Evidence).",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2023-06-07T15:51:13.911042+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: OPDM1 as Green List (high evidence)",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2023-06-07T15:51:13.903456+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: opdm1 has been classified as Green List (High Evidence).",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2023-06-07T15:46:40.786561+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: OPDM1 was added\nSTR: OPDM1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list\nMode of inheritance for STR: OPDM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: OPDM1 were set to 31332380; 34047774\nPhenotypes for STR: OPDM1 were set to Oculopharyngodistal myopathy 1 MIM#164310\nReview for STR: OPDM1 was set to GREEN\nSTR: OPDM1 was marked as clinically relevant\nAdded comment: NM_013437.5:c.-102CGG[X]\r\nRNA-mediated toxicity is thought to be the mechanism of disease. Sixty-five Japanese patients with oculopharyngodistal myopathy (OPDM) from 59 families with CGG repeat expansions in LRP12. This represents the most common OPDM subtype among all patients in Japan with genetically diagnosed OPDM.\r\nNormal: 13 to 45 repeats.\r\nPathogenic: 85 to 289 repeats. \nSources: Expert list",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2023-06-07T15:43:56.418563+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: OPDM2 as ready",
"entity_name": "OPDM2",
"entity_type": "str"
},
{
"created": "2023-06-07T15:43:56.410042+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: opdm2 has been classified as Green List (High Evidence).",
"entity_name": "OPDM2",
"entity_type": "str"
},
{
"created": "2023-06-07T15:43:33.743562+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: OPDM2 as Green List (high evidence)",
"entity_name": "OPDM2",
"entity_type": "str"
},
{
"created": "2023-06-07T15:43:33.711734+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: opdm2 has been classified as Green List (High Evidence).",
"entity_name": "OPDM2",
"entity_type": "str"
},
{
"created": "2023-06-07T15:43:10.534006+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: OPDM2 was added\nSTR: OPDM2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list\nMode of inheritance for STR: OPDM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: OPDM2 were set to 32413282; 33374016\nPhenotypes for STR: OPDM2 were set to Oculopharyngodistal myopathy 2 MIM#618940\nReview for STR: OPDM2 was set to GREEN\nSTR: OPDM2 was marked as clinically relevant\nAdded comment: NM_005716.4:c.-211GGC[X]\r\n>15 Chinese families/probands with a heterozygous trinucleotide repeat expansion (CGG(n)) in 5'UTR exon 1 of the GIPC1 gene. The expansion was found by a combination of linkage analysis, whole-exome sequencing, long-range sequencing, and PCR analysis, and segregated with the disorder in the family. Repeat lengths in the patients ranged from 70 to 138. Normal repeat lengths ranged from 12 to 32. \nSources: Expert list",
"entity_name": "OPDM2",
"entity_type": "str"
},
{
"created": "2023-06-07T15:39:05.661211+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NIID as ready",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2023-06-07T15:39:05.654259+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2023-06-07T15:38:58.779243+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2023-06-07T15:38:58.758110+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2023-06-07T15:38:35.344692+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NIID was added\nSTR: NIID was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[X]\r\nExpanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2.\r\nLarge number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.\r\nNormal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier.\r\nIntermediate range: 41-60 identified in Parkinson's disease\r\nPathogenic repeat range: >=60-520\r\nMechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Expert list",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2023-06-07T15:34:43.838544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.939",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KLHL9 as ready",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:34:43.828684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.939",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: klhl9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:34:15.600376+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.939",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KLHL9 as Amber List (moderate evidence)",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:34:15.589911+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.939",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: klhl9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:33:58.038976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.938",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: A single German family reported in 2010, segregating a missense variant c.796T>C p.Leu95Phe. In vitro functional assays demonstrated the variant diminishes the binding of KLHL9 to Cul3. \nSources: Literature; to: A single German family reported in 2010, segregating a missense variant c.796T>C p.Leu95Phe. In vitro functional assays demonstrated the variant diminishes the binding of KLHL9 to Cul3. \r\nAnkle flexion contracture is reported in a mouse model, but there are other significant features present in the homozygous animals too - https://www.mousephenotype.org/data/genes/MGI:2180122\r\nSources: Literature",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:29:52.867432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.938",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KLHL9 was added\ngene: KLHL9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KLHL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLHL9 were set to 20554658\nPhenotypes for gene: KLHL9 were set to distal myopathy MONDO:0018949\nReview for gene: KLHL9 was set to AMBER\nAdded comment: A single German family reported in 2010, segregating a missense variant c.796T>C p.Leu95Phe. In vitro functional assays demonstrated the variant diminishes the binding of KLHL9 to Cul3. \nSources: Literature",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:26:41.453899+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KLHL9 as ready",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:26:41.442810+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: klhl9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:26:36.143226+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KLHL9 as Amber List (moderate evidence)",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:26:36.135476+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: klhl9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:25:57.673425+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: KLHL9: Changed publications: 20554658, 33458580",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:24:34.844705+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KLHL9 was added\ngene: KLHL9 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: KLHL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLHL9 were set to 20554658\nPhenotypes for gene: KLHL9 were set to distal myopathy MONDO:0018949\nReview for gene: KLHL9 was set to AMBER\nAdded comment: A single German family reported in 2010, segregating a missense variant c.796T>C p.Leu95Phe. In vitro functional assays demonstrated the variant diminishes the binding of KLHL9 to Cul3. \nSources: Literature",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:10:20.147076+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HSPB8 as ready",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:10:20.135868+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hspb8 has been classified as Green List (High Evidence).",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:10:16.131886+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HSPB8 as Green List (high evidence)",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:10:16.123358+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hspb8 has been classified as Green List (High Evidence).",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2023-06-07T15:09:53.628304+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HSPB8 was added\ngene: HSPB8 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HSPB8 were set to 32165108; 26718575; 31403083; 28780615\nPhenotypes for gene: HSPB8 were set to autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773\nMode of pathogenicity for gene: HSPB8 was set to Other\nReview for gene: HSPB8 was set to GREEN\ngene: HSPB8 was marked as current diagnostic\nAdded comment: At least 4 reported unrelated families with distal myopathy and a supporting mouse model. Toxic gain of function is the mechanism of disease. \nSources: Literature",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2023-06-07T14:52:39.310206+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DNM2 as ready",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2023-06-07T14:52:39.297192+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dnm2 has been classified as Green List (High Evidence).",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2023-06-07T14:52:21.820981+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DNM2 as Green List (high evidence)",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2023-06-07T14:52:21.812287+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dnm2 has been classified as Green List (High Evidence).",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2023-06-07T14:51:58.961948+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNM2 was added\ngene: DNM2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNM2 were set to 16227997; 33458580; 30232666; 24465259; 23938035\nPhenotypes for gene: DNM2 were set to autosomal dominant centronuclear myopathy MONDO:0008048\nReview for gene: DNM2 was set to GREEN\ngene: DNM2 was marked as current diagnostic\nAdded comment: Distal myopathy is a common feature reported in affected cases. \nSources: Literature",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2023-06-07T14:40:58.840489+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: MRUPAV as ready",
"entity_name": "MRUPAV",
"entity_type": "str"
}
]
}