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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=601",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=599",
"results": [
{
"created": "2023-05-23T10:28:15.984536+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: CASK was added\ngene: CASK was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: CASK were set to 33528536\nPhenotypes for gene: CASK were set to Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749\nReview for gene: CASK was set to GREEN\nAdded comment: 4 individual cases in one large CP cohort study. 3 of them confirmed de novo nonsense mutations, one in-frame five AA deletion with unknown inheritance. All reported to be heterozygous in an X-linked gene and thus affecting females as known for the allelic disease ID with pontine and cerebellar hypoplasia. \nSources: Literature",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2023-05-23T10:11:42.574006+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29761117, 33528536, 34364746, 34531397, 34788679; Phenotypes: Developmental and epileptic encephalopathy MIM#617106, Episodic ataxia MIM#108500, familial hemiplegic Migraine MIM#141500 and MIM#141500, Spinocerebellar ataxia MIM#183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2023-05-23T09:52:34.507942+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: BRAT1 was added\ngene: BRAT1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRAT1 were set to 29997391\nPhenotypes for gene: BRAT1 were set to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures MIM#618056; neonatal lethal rigidity and multifocal seizure syndrome MIM#614498\nReview for gene: BRAT1 was set to AMBER\nAdded comment: Biallelic BRAT1 mutations cause a neurodevelopmental phenotype with evidence of marked genotype–phenotype correlation: homozygous null variants result in a severe phenotype, whereas compound heterozygosity for null/hypomorphic variants is associated with a milder phenotype. In one study one patient with homozygous hypomorphic variants was diagnosed as a congenital cerebral palsy due to spastic paraplegia. \nSources: Literature",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2023-05-23T09:26:42.532154+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "reviewed gene: BCL11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35856171, 33528536, 34077496; Phenotypes: Dias-Logan syndrome, MIM#617101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2023-05-22T16:59:50.744064+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA27B as ready",
"entity_name": "SCA27B",
"entity_type": "str"
},
{
"created": "2023-05-22T16:59:50.733760+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca27b has been classified as Green List (High Evidence).",
"entity_name": "SCA27B",
"entity_type": "str"
},
{
"created": "2023-05-22T16:59:34.805114+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA27B as Green List (high evidence)",
"entity_name": "SCA27B",
"entity_type": "str"
},
{
"created": "2023-05-22T16:59:34.790404+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca27b has been classified as Green List (High Evidence).",
"entity_name": "SCA27B",
"entity_type": "str"
},
{
"created": "2023-05-22T16:59:25.858721+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA27B was added\nSTR: SCA27B was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: SCA27B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA27B were set to 37165652; 36516086; 36493768\nPhenotypes for STR: SCA27B were set to Spinocerebellar ataxia type 27B MONDO:0012247; Spinocerebellar ataxia 50; late-onset cerebellar ataxias (LOCAs)\nReview for STR: SCA27B was set to GREEN\nSTR: SCA27B was marked as clinically relevant\nAdded comment: NM_175929.3(FGF14):c.208+239747CTT[X]\r\nExpansions of 250 or more GAA repeat units were associated with late-onset cerebellar ataxia in a French-Canadian (OR: 105.60 [95% CI=31.09-334.20], p<0.001) and a German (OR: 8.76 [95% CI=3.45-20.84], p<0.001) case-control series. Additionally, expanded alleles greater than (GAA)332 are pathogenic and fully penetrant in a combined Australian and German dataset (p = 6.0 × 10−8, OR = 72 [95% CI = 4.3–1,227]). Whereas, alleles in the range of (GAA)250-334 are likely to be pathogenic with reduced penetrance (p = 0.0015, OR = 3.6 [95% CI = 1.6–7.9]).\r\n250-300 repeats in the incompletely penetrant range\r\n>300 is fully penetrant for ataxia \nSources: Literature",
"entity_name": "SCA27B",
"entity_type": "str"
},
{
"created": "2023-05-22T16:41:03.926743+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: ATP8A2 was added\ngene: ATP8A2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP8A2 were set to 35321980; 30542205; 34077496\nPhenotypes for gene: ATP8A2 were set to Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome, MIM#615268\nReview for gene: ATP8A2 was set to GREEN\nAdded comment: 4 individuals from 3 families with biallelic mutations in ATP8A2 and CP. 3/4 patients presented with intellectual disability.\r\n\r\nPMID 35321980: Two sibling reported with a non-progressive dyskinetic cerebral palsy resembling cerebellar ataxia (athetotic movements, ptosis, ophthalmoplegia, hypotonia, delayed development)\r\n\r\nPMID 30542205: One patient with atypical CP (atypical due to intellectual disability)because intell dis and typical neurologic pattern (hypertonia, ataxia or transient episodic exacerbations of neurologic symptoms)\r\n\r\nPMID 34077496: One patient with CP and microcephaly likely due to simultaneously present biallelic CIT mutations \nSources: Literature",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2023-05-22T15:56:53.525894+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: ATP7A was added\ngene: ATP7A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ATP7A were set to 35322241; 33528536; 34788679\nPhenotypes for gene: ATP7A were set to Menkes disease MIM#3094009\nReview for gene: ATP7A was set to GREEN\nAdded comment: 3 individuals from 3 different publications with CP. Two patients were male with de novo splice affecting mutations. One patient was female with a heterozygous de novo frameshift mutation in ATP7B causative for the disease as described before for Menkes disease. \nSources: Literature",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2023-05-22T15:30:53.387003+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: ATM was added\ngene: ATM was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATM were set to 34364746; 26380989; 34114234\nPhenotypes for gene: ATM were set to Ataxia-telangiectasia, MIM#208900\nReview for gene: ATM was set to GREEN\nAdded comment: 3 individuals presenting with CP and harboring biallelic compound heterozygous mutations in ATM. At least one the individual had an overlapping phenotype of CP with Ataxia Teleangiectasia \nSources: Literature",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2023-05-22T15:03:28.443516+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: ARID2 was added\ngene: ARID2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARID2 were set to 33528536\nPhenotypes for gene: ARID2 were set to Coffin-Siris syndrome, MIM#617808\nReview for gene: ARID2 was set to GREEN\nAdded comment: Large cohort study with three individual cases with CP and de novo ARID2 mutations (2 nonsense and 1 frameshift mutation) \nSources: Literature",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:58:40.440795+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: ARG1 was added\ngene: ARG1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARG1 were set to 35505270; 34788679\nPhenotypes for gene: ARG1 were set to Argininemia MIM#207800\nReview for gene: ARG1 was set to GREEN\nAdded comment: Literature review: Three independent cases have been published with biallelic mutations in ARG1 and presenting with cerebral palsy. Two patients harbored a recurrent splice site mutation, one patient presented with compound heterozygous missense mutations. \nSources: Literature",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:39:46.295924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN4A were changed from Hyperkalemic periodic paralysis, type 2, MIM# 170500; Hypokalemic periodic paralysis, type 2, MIM# 613345; Myasthenic syndrome, congenital, 16, MIM# 614198; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Paramyotonia congenita , MIM#168300 to Congenital myopathy 22A, classic, MIM# 620351; Congenital myopathy 22B, severe fetal, MIM# 620369; Hyperkalemic periodic paralysis, type 2, MIM# 170500; Hypokalemic periodic paralysis, type 2, MIM# 613345; Myasthenic syndrome, congenital, 16, MIM# 614198; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Paramyotonia congenita , MIM#168300",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:39:20.625390+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCN4A: Changed phenotypes: Congenital myopathy 22A, classic, MIM# 620351, Congenital myopathy 22B, severe fetal, MIM# 620369, Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345, Myasthenic syndrome, congenital, 16, MIM# 614198, Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390, Paramyotonia congenita , MIM#168300",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:38:20.289215+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN4A were changed from Congenital myopathy; Myasthenic syndrome, congenital, 16 MIM#614198 to Congenital myopathy 22B, severe fetal, MIM# 620369; Myasthenic syndrome, congenital, 16 MIM#614198",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:37:59.279686+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 22B, severe fetal, MIM# 620369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:30:57.880594+10:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OXGR1 were changed from Nephrolithiasis/nephrocalcinosis, MONDO:0008171, OXGR1-related to Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:30:44.926817+10:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OXGR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:30:23.012868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OXGR1 were changed from Nephrolithiasis/nephrocalcinosis MONDO:0008171, OXGR1-related to Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:29:57.109774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OXGR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:20:35.666452+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: AKT3 was added\ngene: AKT3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AKT3 were set to 34354878; 30542205; 32989326\nReview for gene: AKT3 was set to AMBER\nAdded comment: Two individual patients with CP and an AKT3 mutation have been published. In one of them (PMID 34354878) CP might be caused by birth asphyxia and is not be related to the AKT3 mutation. Additionally, there is functional data supporting the hypothesis that AKT3 might be a causative gene (PMID 32989326).\r\n\r\nPMID 34354878: One patient described as presenting with MPPH and having a mutation in AKT3, while the mutation itself is not named (unknown whether LoF or missense, de novo or inherited). CP is listed as a coexisting feature in this patient which was caused by birth asphyxia due to umbilical cord strangulation around his neck.\r\n\r\n30542205: One additional case with atypical CP (atypical due to major brain malformations and progressive neurologic disease) and a de novo missense mutation \nSources: Literature",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:20:14.546770+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LYN as ready",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:20:14.535850+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyn has been classified as Green List (High Evidence).",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:20:09.344964+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LYN as Green List (high evidence)",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:20:09.334325+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyn has been classified as Green List (High Evidence).",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:19:38.251227+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LYN was added\ngene: LYN was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: LYN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LYN were set to 36932076; 36122175\nPhenotypes for gene: LYN were set to Autoinflammatory disease, systemic, with vasculitis, MIM# 620376\nReview for gene: LYN was set to GREEN\nAdded comment: Three unrelated individuals from described with three distinct de novo variants in LYN, p.Y508*, p.Q507* and a missense variant, p.Y508F. The PTC variants do not cause NMD, and all three variants have been shown to result in constitutively active LYN kinase by preventing inhibitory phosphorylation of the Y508 regulatory tyrosine. Extensive functional data to confirm gain-of-function effect was presented. Patient presented perinatally with immunological symptoms, including diffuse purpuric skin lesions, fever, and increased C-reactive protein (CRP). mild anemia, mild leukocytosis, moderate to severe thrombocytopenia. The patients with PTC were more severe, developing liver fibrosis and signs of cirrhosis. All three patients responded to various degrees to treatment with src kinase inhibitors, dasatinib, etanercept and/or colchicine. Authors named the condition Lyn kinase-associated vasculopathy and liver fibrosis (LAVLI). A fourth patient with a Tyr508His has also been described and presented with since birth with recurrent fever, chronic urticaria, atopic dermatitis, arthralgia, increased inflammatory biomarkers, and elevated plasma cytokine levels. Other features not consistent with LYN disease were attributed to prematurity (following maternal HELLP syndrome) and potentially other genetic factors. \nSources: Literature",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:17:57.974755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LYN were changed from Vasculitis, MONDO:0018882, LYN-related to Autoinflammatory disease, systemic, with vasculitis, MIM# 620376",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2023-05-22T14:17:38.206651+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LYN: Changed phenotypes: Autoinflammatory disease, systemic, with vasculitis, MIM# 620376",
"entity_name": "LYN",
"entity_type": "gene"
},
{
"created": "2023-05-22T13:25:11.383680+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: AHDC1 was added\ngene: AHDC1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AHDC1 were set to 33528536\nPhenotypes for gene: AHDC1 were set to Xia-Gibbs syndrome, MIM#615829\nReview for gene: AHDC1 was set to GREEN\nAdded comment: 3 individuals in CP cohort with mono-allelic de novo variants (2 frameshift, 1 6-AA-deletion).\r\n\r\nOther ADHC1 frameshift mutations have been known to cause an early onset neurological disorder with absent or poor expressive language, obstructive sleep apnea and brain abnormalities. \nSources: Literature",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2023-05-22T13:06:48.413255+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: ADNP was added\ngene: ADNP was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADNP were set to 33528536\nPhenotypes for gene: ADNP were set to Helsmoortel-van der Aa syndrome\tMIM#615873\nReview for gene: ADNP was set to AMBER\nAdded comment: Large cohort study of cerebral palsy cases identified two variants in two individual patients with CP. One mutation was a recurrent Helsmoortel-van der Aa-syndrome nonsense mutation, the other was a de novo frameshift mutation. No further information about the patient's phenotype was given. \nSources: Literature",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2023-05-22T12:41:53.723157+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.36",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: ACADM was added\ngene: ACADM was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACADM were set to 11263545; 35076175\nPhenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450\nReview for gene: ACADM was set to AMBER\nAdded comment: Currently unclear if variants in this gene can cause CP. If so, CP is likely to happen as a secondary effect of the brain damage happening if Acyl-CoA dehydrogenase deficiency is not treated correctly or early enough. \r\nAccording to one study, CP can be present in 9% of cases with biallelic mutations in ACADM, probably secondary to the underlying disease and associated with early-onset seizures (PMID 11263545). \r\nIn a second publication one other case of CP associated with biallelic mutations in ACADM was presented, but this patient's phenotype was likely caused by biallelic mutations in PDHX which were present simultaneously. \nSources: Literature",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2023-05-22T09:52:36.454120+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.149",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2023-05-19T19:04:17.870317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA13 as Green List (high evidence)",
"entity_name": "NDUFA13",
"entity_type": "gene"
},
{
"created": "2023-05-19T19:04:17.844283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa13 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA13",
"entity_type": "gene"
},
{
"created": "2023-05-19T19:03:52.413006+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA13 as Green List (high evidence)",
"entity_name": "NDUFA13",
"entity_type": "gene"
},
{
"created": "2023-05-19T19:03:52.401737+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa13 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA13",
"entity_type": "gene"
},
{
"created": "2023-05-19T19:02:38.793224+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC52A3 as ready",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2023-05-19T19:02:38.784656+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2023-05-19T19:02:35.120095+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC52A3 were changed from to Amytrophic Lateral Sclerosis (ALS); Brown-Vialetto-van Laere syndrome 1 (MIM# 211530)",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2023-05-19T19:02:01.188498+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC52A3 were set to ",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2023-05-19T19:01:27.714178+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC52A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2023-05-19T19:00:34.160928+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TARDBP as ready",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2023-05-19T19:00:34.149060+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tardbp has been classified as Green List (High Evidence).",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:57:51.563948+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TARDBP were changed from to Amyotrophic lateral sclerosis 10, with or without FTD; Frontotemporal lobar degeneration, TARDBP-related (MIM#612069; MONDO: 0012790)",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:57:15.512433+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TARDBP were set to ",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:56:39.594238+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TARDBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:55:55.779810+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBK1 as ready",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:55:55.758891+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbk1 has been classified as Green List (High Evidence).",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:55:51.553938+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBK1 were changed from to Amyotrophic lateral sclerosis 4 (MIM#616439; MONDO:0011223)",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:55:10.209704+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBK1 were set to ",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:53:17.460321+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:51:49.505183+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBQLN2 as ready",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:51:49.496921+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubqln2 has been classified as Green List (High Evidence).",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:51:46.520726+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBQLN2 were changed from to Amyotrophic lateral sclerosis type 15 (MONDO:0010459; MIM#300857)",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:51:12.063689+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBQLN2 were set to ",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:50:36.240748+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBQLN2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:49:46.394564+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VAPB as ready",
"entity_name": "VAPB",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:49:46.383645+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vapb has been classified as Green List (High Evidence).",
"entity_name": "VAPB",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:49:43.656974+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VAPB were changed from to Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980); Amyotrophic lateral sclerosis 8",
"entity_name": "VAPB",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:49:10.594064+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VAPB were set to ",
"entity_name": "VAPB",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:48:33.604767+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VAPB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VAPB",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:48:02.542153+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: VAPB.",
"entity_name": "VAPB",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:47:27.723532+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VCP as ready",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:47:27.715136+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcp has been classified as Green List (High Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:47:24.317025+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VCP were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (MIM#613954)",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:46:52.165862+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VCP were set to ",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:46:17.715565+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VCP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:45:31.594371+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD1 as ready",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:45:31.576600+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd1 has been classified as Green List (High Evidence).",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:45:26.970013+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD1 were changed from Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance to Adrenomyeloneuropathy, adult (MIM#300100); Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:45:08.773588+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCD1 were set to ",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:44:15.438862+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFG3L2 as ready",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:44:15.428987+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Green List (High Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:44:10.566505+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia to Spastic ataxia 5, autosomal recessive, MIM# 614487, MONDO:0013776; Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:43:44.209106+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFG3L2 were set to ",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:43:28.695005+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:43:12.430664+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM# 614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:41:37.000764+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMACR as ready",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:41:36.992926+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:41:33.311127+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMACR were changed from Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids to Alpha-methylacyl-CoA racemase deficiency (MIM#614307); Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-05-19T18:41:17.611966+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMACR were set to ",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-05-19T15:41:31.223822+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.27",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:PINK1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-05-19T15:40:46.360642+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.873",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PINK1 as ready",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2023-05-19T15:40:46.349501+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.873",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pink1 has been classified as Green List (High Evidence).",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2023-05-19T15:40:03.944963+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.873",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: PINK1 were changed from to Parkinson disease 6, early onset, MIM# 605909",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2023-05-19T15:39:14.428937+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.872",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PINK1 were set to ",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2023-05-19T15:38:36.700485+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.871",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PINK1 as Green List (high evidence)",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2023-05-19T15:38:36.695208+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.871",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ICIMD Nosology Group\r\nDisorders of mitochondrial protein quality control",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2023-05-19T15:38:36.658142+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.871",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pink1 has been classified as Green List (High Evidence).",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2023-05-19T15:36:31.722469+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.869",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PINK1 was added\ngene: PINK1 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2023-05-19T15:16:47.201401+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CDHR1 as ready",
"entity_name": "CDHR1",
"entity_type": "gene"
},
{
"created": "2023-05-19T15:16:47.194082+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cdhr1 has been classified as Green List (High Evidence).",
"entity_name": "CDHR1",
"entity_type": "gene"
},
{
"created": "2023-05-19T15:16:42.180865+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CDHR1 as Green List (high evidence)",
"entity_name": "CDHR1",
"entity_type": "gene"
},
{
"created": "2023-05-19T15:16:42.169711+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cdhr1 has been classified as Green List (High Evidence).",
"entity_name": "CDHR1",
"entity_type": "gene"
},
{
"created": "2023-05-19T15:16:31.102544+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CDHR1 was added\ngene: CDHR1 was added to Macular Dystrophy/Stargardt Disease. Sources: Expert list\nMode of inheritance for gene: CDHR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDHR1 were set to 32681094; 31387115; 35627310\nPhenotypes for gene: CDHR1 were set to Genetic macular dystrophy MONDO:0020242\nReview for gene: CDHR1 was set to GREEN\ngene: CDHR1 was marked as current diagnostic\nAdded comment: >10 individuals with late-onset macular dystrophy reported, mainly with c.783G>A (synonymous variant leading to in-frame skipping of exon 8) in the homozygous state or compound heterozygous with a second pathogenic variant in CDHR1 \nSources: Expert list",
"entity_name": "CDHR1",
"entity_type": "gene"
},
{
"created": "2023-05-19T11:32:14.877576+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.142",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: 36108118, 10655068, 20821052, 18032455; Phenotypes: Alpha-methylacyl-CoA racemase deficiency (MIM#614307); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-05-19T10:36:21.043351+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.142",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22022284, 25401298; Phenotypes: Spastic Ataxia 5 (MIM#614487, MONDO:0013776); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-05-19T10:11:12.434666+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.240",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GIGYF2 were set to 18358451; 33239198; 25279164; 20060621; 19250854; 26152800; 19449032",
"entity_name": "GIGYF2",
"entity_type": "gene"
}
]
}