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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=586",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=584",
"results": [
{
"created": "2023-06-27T19:47:40.132435+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt6c has been classified as Green List (High Evidence).",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:47:33.819872+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KRT6C as Green List (high evidence)",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:47:33.810594+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt6c has been classified as Green List (High Evidence).",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:46:48.159080+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KRT6B as ready",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:46:48.135734+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt6b has been classified as Green List (High Evidence).",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:22:44.324921+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KRT6B as Green List (high evidence)",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:22:44.315529+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt6b has been classified as Green List (High Evidence).",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:08:19.248326+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KRT6A as ready",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:08:19.203217+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt6a has been classified as Green List (High Evidence).",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:03:40.747430+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KRT6A as Green List (high evidence)",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:03:40.740699+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt6a has been classified as Green List (High Evidence).",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:02:32.919723+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KRT17 as ready",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2023-06-27T19:02:32.911668+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt17 has been classified as Green List (High Evidence).",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2023-06-27T18:59:36.162441+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KRT17 as Green List (high evidence)",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2023-06-27T18:59:36.136988+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt17 has been classified as Green List (High Evidence).",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2023-06-27T18:57:02.969810+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KRT17 was changed from None to Other",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2023-06-27T18:55:59.154360+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KRT16 as ready",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2023-06-27T18:55:59.142856+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt16 has been classified as Green List (High Evidence).",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2023-06-27T18:42:35.897367+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KRT16 as Green List (high evidence)",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2023-06-27T18:42:35.884869+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt16 has been classified as Green List (High Evidence).",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2023-06-27T18:36:47.740828+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "FLG2",
"entity_type": "gene"
},
{
"created": "2023-06-27T18:36:44.243359+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "commented on gene: FLG2",
"entity_name": "FLG2",
"entity_type": "gene"
},
{
"created": "2023-06-27T18:35:50.183575+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FLG2 as Green List (high evidence)",
"entity_name": "FLG2",
"entity_type": "gene"
},
{
"created": "2023-06-27T18:35:50.174199+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: flg2 has been classified as Green List (High Evidence).",
"entity_name": "FLG2",
"entity_type": "gene"
},
{
"created": "2023-06-27T18:35:21.905423+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "FLG2",
"entity_type": "gene"
},
{
"created": "2023-06-27T16:03:34.171076+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMM2 were set to 34788679\nPhenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia MIM#212065\nReview for gene: PMM2 was set to AMBER\nAdded comment: One patient in a large CP cohort study was found to have biallelic mutations ins PMM2, but usually PMM2-CDG presents as a progressive multisystem disease with dysmorphism. \nSources: Literature",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2023-06-27T15:09:57.392895+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: PLP1 was added\ngene: PLP1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PLP1 were set to 33528536; 25280894; 34816117\nPhenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease MIM#312080; Spastic paraplegia 2, X-linked MIM#312920\nReview for gene: PLP1 was set to GREEN\nAdded comment: Three large cohort studies with patients initially presenting as CP found three individuals with hemizygous mutations in PLP1. Note that individuals ins PMID 33528536 and 34816117 had different base pair exchanges at the same splice site location (NM_000533:c.191+1G>T and c.191+1G>A, respectively). The other mutation was a PLP1 gene duplication. One patient also had a affected brother. \nSources: Literature",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2023-06-27T14:55:26.203817+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: PLA2G6 was added\ngene: PLA2G6 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLA2G6 were set to 33528536; 34540776; 34788679\nPhenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953\nReview for gene: PLA2G6 was set to GREEN\nAdded comment: Three different individuals from three large CP cohort studies presenting with biallelic PLA2G6 mutations. \nSources: Literature",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-06-27T14:45:39.850041+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: PIGA was added\ngene: PIGA was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PIGA were set to 33528536; 24706016\nPhenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868; Neurodevelopmental disorder with epilepsy and hemochromatosis MIM#301072; Paroxysmal nocturnal hemoglobinuria, somatic MIM#300818\nReview for gene: PIGA was set to GREEN\nAdded comment: One case in a large CP cohort study with maternally inherited PIGA mutation predicted to be likely pathogenic.\r\nIn addition, Kato (PMID 24706016) reviewed 7 cases of boys with hemizygous PIGA mutations and encephalopathies, two of which had non-progressive hypotonic quadriplegia and one had spastic quadriplegia. They also showed intellectual disability and seizures. No CP diagnoses was given, but phenotypic overlap is present. \nSources: Literature",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2023-06-27T13:25:29.574847+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: PDHX was added\ngene: PDHX was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDHX were set to 33528536; 35076175; 34540776\nPhenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency MIM#245349\nReview for gene: PDHX was set to GREEN\nAdded comment: Three individual patients from three large CP cohort studies with homozygous PDHX mutations. Note that in one case (PMID 35076175) the patient had both homozygous PDHX and homozygous ACADM mutations, but his phenotype was more consistent with PDHX mutations. \nSources: Literature",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2023-06-27T13:18:30.419273+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: PDHA1 was added\ngene: PDHA1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PDHA1 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: PDHA1 were set to 33528536; 10486093\nPhenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency MIM#312170\nReview for gene: PDHA1 was set to GREEN\nAdded comment: 2 patients in 1 large CP cohort presented with heterozygous likely pathogenic missense mutations, one of them confirmed de novo. \r\nIn an older case report (PMID:10486093) two unrelated girls were presented with cerebral palsy which were found to harbor heterozygous PDHA mutations. In one case, parental DNA wasn't analyzed, in the other case the mutation wasn't found in the healthy mother and the healthy brother of the patient. Both girls showed skewed X-Inactivation. \r\nNote that in X-linked PDH deficiency it has been shown that a high proportion of heterozygous females manifest severe symptoms. \nSources: Literature",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2023-06-27T12:57:39.325058+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33098801, 34114234, 25131622; Phenotypes: HARP syndrome MIM#607236, Neurodegeneration with brain iron accumulation MIM#234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-06-27T12:29:09.398626+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444167, 30542205, 25666757; Phenotypes: Intellectual developmental disorder, X-linked MIM#300558; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2023-06-27T12:05:15.875235+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: PAFAH1B1 was added\ngene: PAFAH1B1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAFAH1B1 were set to 19667223\nPhenotypes for gene: PAFAH1B1 were set to Lissencephaly MIM#607432; Subcortical laminar heterotopia MIM#607432\nReview for gene: PAFAH1B1 was set to GREEN\nAdded comment: Saillour reviewed 63 patients with posteriorly predominant lissencephaly, 40 of which were proven to have a LIS1 mutation. None of them were officially diagnosed with cerebral palsy, however, 24 of those 40 patients presented with \"severe motor impairment including axial hypotonia and spastic quadriparesis\". A high percentage of patients also showed severe developmental delay and epilepsy. \nSources: Literature",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2023-06-27T11:49:12.251622+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: NFIX was added\ngene: NFIX was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFIX were set to 34788679\nPhenotypes for gene: NFIX were set to Malan syndrome MIM#614753; Marshall-Smith syndrome MIM#602535\nReview for gene: NFIX was set to AMBER\nAdded comment: Two patients in a large CP cohort study, one with a nonsense mutation without information on inheritance and one with a de novo missense mutation predicted to be likely pathogenic. Normally, NFIX mutation cause accelerated bone maturation with overgrwowth, dysmorphism and mental retardation, so there is a low possibility for phenotypic overlap. \nSources: Literature",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2023-06-27T11:12:34.985223+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: NAA10 was added\ngene: NAA10 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NAA10 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: NAA10 were set to 33528536; 30542205\nPhenotypes for gene: NAA10 were set to Microphthalmia, syndromic MIM#309800; Ogden syndrome MIM#300855\nReview for gene: NAA10 was set to GREEN\nAdded comment: Four individual cases in two large CP cohort studies. Note that in one publication (33528536) 2/3 mutations occurred de novo. \nSources: Literature",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2023-06-27T11:02:19.598967+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.88",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "gene: MT-TL1 was added\ngene: MT-TL1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL\nPublications for gene: MT-TL1 were set to 34531397; 34077496; 25280894\nPhenotypes for gene: MT-TL1 were set to MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS MERRF MIM#545000; CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED CYCLIC VOMITING SYNDROME-PLUS, INCLUDED CVS-PLUS, INCLUDED MIM#500007; MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES MELAS MIM#540000; DIABETES AND DEAFNESS, MATERNALLY INHERITED MIDD MIM#520000\nReview for gene: MT-TL1 was set to GREEN\nAdded comment: Three individual cases in three different large CP cohort publications. In one case, heteroplasmy was 8% in another it was 58% with a low level detectable also in the mother. The third does not state the heteroplasmy level. Note very high intra- and interfamilial variability, partly due to heteroplasmy level in different tissues. \nSources: Literature",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-06-27T04:14:29.346208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.946",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: UBE3B: Rating: AMBER; Mode of pathogenicity: None; Publications: 23200864, 23687348, 37010288; Phenotypes: Kaufman oculocerebrofacial syndrome, OMIM:244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2023-06-25T20:19:53.270711+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.946",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168959, 37010288; Phenotypes: Coffin-Siris syndrome 3, OMIM:614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-06-24T17:47:06.475889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.946",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 9188663, 30329210, 37010288; Phenotypes: Hajdu-Cheney syndrome, OMIM:102500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2023-06-23T20:47:03.346485+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.946",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: AUTS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31788251, 37010288; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, OMIM:615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2023-06-23T20:20:20.810679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.946",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168959, 37010288; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-06-23T17:09:37.163914+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.5",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SPINK5 was added\ngene: SPINK5 was added to Epidermolysis bullosa. Sources: Other\nMode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPINK5 were set to 19683336\nPhenotypes for gene: SPINK5 were set to Netherton syndrome (MIM#256500)\nMode of pathogenicity for gene: SPINK5 was set to Other\nReview for gene: SPINK5 was set to GREEN\nAdded comment: Characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels.\r\nTypically caused by either homozygous or compound heterozygous mutations. \r\n\r\nPMID: 19683336\r\n9 unrelated children with Comel-Netherton syndrome with homozygous mutations in SPINK5. \nSources: Other",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2023-06-23T17:04:22.134649+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.5",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KRT17 was added\ngene: KRT17 was added to Epidermolysis bullosa. Sources: Other\nMode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT17 were set to 11886499; 21326300\nPhenotypes for gene: KRT17 were set to Pachyonychia congenita 2 (MIM#167210)\nReview for gene: KRT17 was set to GREEN\nAdded comment: Also reported as Jackson-Lawler type syndrome\r\n\r\nPMID: 11886499\r\n4 unrelated individuals with pachyonychia congenita like phenotype \r\n\r\nPMID: 21326300\r\nHeterozygous pathogenic mutations have a dominant-negative effect on the KRT17 protein \nSources: Other",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2023-06-23T16:49:35.817225+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.5",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KRT16 was added\ngene: KRT16 was added to Epidermolysis bullosa. Sources: Other\nMode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT16 were set to 16250206\nPhenotypes for gene: KRT16 were set to Pachyonychia congenita 1 (MIM#167200)\nMode of pathogenicity for gene: KRT16 was set to Other\nReview for gene: KRT16 was set to GREEN\nAdded comment: PMID: 16250206\r\nTypically identified by nail bed, palmoplantar epidermis (widespread), epidermal appendages, oral mucosa and wound healing.\r\n>5 unrelated families with a consistent phenotype of PC and a heterozygous missense variant in KRT16. \nSources: Other",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2023-06-23T16:35:17.621733+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.5",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KRT6C was added\ngene: KRT6C was added to Epidermolysis bullosa. Sources: Other\nMode of inheritance for gene: KRT6C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT6C were set to 31823354; 23662636\nPhenotypes for gene: KRT6C were set to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)\nMode of pathogenicity for gene: KRT6C was set to Other\nReview for gene: KRT6C was set to GREEN\nAdded comment: Phenotype overlap with Pachyonychia congenita (PC)\r\n\r\nPMID: 31823354\r\nApprox 23 unrelated families with mutation in KRT6C with phenotypes consistent with pachyonchia congenita\r\n\r\nPMID: 23662636\r\nIn vitro assay in HaCaT cells showed the overexpression of mutant keratin 6c showed a collapse of the keratin filament network suggestive of dominant negative effect pathogenicity. \nSources: Other",
"entity_name": "KRT6C",
"entity_type": "gene"
},
{
"created": "2023-06-23T16:15:07.017426+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.5",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KRT6B was added\ngene: KRT6B was added to Epidermolysis bullosa. Sources: Other\nMode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT6B were set to 24611874; 21326300\nPhenotypes for gene: KRT6B were set to Pachyonychia congenita 4 MIM#615728\nMode of pathogenicity for gene: KRT6B was set to Other\nReview for gene: KRT6B was set to GREEN\nAdded comment: Previously known as Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2\r\nMutants are found to have a dominant-negative most of pathogenicity.\r\n\r\nPMID: 24611874\r\nMultiple families with either plantar keratoderma or palmopantar keratoderma phenotypes with a mutation in KRT6B\r\n\r\nPMID: 21326300 \r\nThe most common reported mutation K6b p.Glu472Lys in families with KRT6B-related Pachyonychia congenita \nSources: Other",
"entity_name": "KRT6B",
"entity_type": "gene"
},
{
"created": "2023-06-23T15:39:16.365317+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.5",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KRT6A was added\ngene: KRT6A was added to Epidermolysis bullosa. Sources: Other\nMode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT6A were set to 32017015; 21326300\nPhenotypes for gene: KRT6A were set to Pachyonychia congenita 3 MIM#615726\nMode of pathogenicity for gene: KRT6A was set to Other\nReview for gene: KRT6A was set to GREEN\nAdded comment: Well established gene-disease association. \r\n\r\nMultiple families reported with hyperkeratotic disorders with skin fragility like symptoms.\r\np.Asn172del is the most common mutation identified in families with Pachyonychia congenita \nSources: Other",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2023-06-23T02:14:21.314262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.946",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: There are ten unrelated patients reported with cleft palate. Hence, this gene should be added with green rating to 'clefting disorders' panel.\r\n\r\nPMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database)\r\n\r\nDECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate. \r\n\r\nCleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM.; to: There are ten unrelated patients reported with cleft palate. Hence, this gene should be added with green rating to 'clefting disorders' panel.\r\n\r\nPMID:31206972 - Of 42 families identified with de novo and inherited variants in ZC4H2 gene, eight patients had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database)\r\n\r\nDECIPHER database - Of 13 patients with sequence variants, three patients had cleft palate. \r\n\r\nCleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM.",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2023-06-23T02:12:16.735758+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.946",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: ZC4H2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2023-06-23T02:11:42.125597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.946",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: ZC4H2: Changed publications: 31206972, 37010288; Changed phenotypes: Wieacker-Wolff syndrome, female-restricted, OMIM:301041",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2023-06-23T02:11:04.784972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.946",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2023-06-23T01:38:36.812414+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCSH as ready",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2023-06-23T01:38:36.799979+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcsh has been classified as Green List (High Evidence).",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2023-06-23T01:38:25.073843+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GCSH as Green List (high evidence)",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2023-06-23T01:38:25.064531+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcsh has been classified as Green List (High Evidence).",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2023-06-23T01:37:42.577614+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCSH was added\ngene: GCSH was added to Mitochondrial disease. Sources: Expert Review\nMode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GCSH were set to 33890291; 36190515\nPhenotypes for gene: GCSH were set to Multiple mitochondrial dysfunctions syndrome 7, MIM#\t620423\nReview for gene: GCSH was set to GREEN\nAdded comment: 7 unrelated families reported. Phenotype ranges from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy and variable movement problems. \nSources: Expert Review",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2023-06-23T01:34:48.389193+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCSH were changed from Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related to Multiple mitochondrial dysfunctions syndrome 7, MIM#\t620423",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2023-06-23T01:33:46.588183+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Multiple mitochondrial dysfunctions syndrome 7, MIM#\t620423",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2023-06-23T01:33:00.790988+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCSH were changed from Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related to Multiple mitochondrial dysfunctions syndrome 7, MIM#\t620423",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2023-06-23T01:31:55.829415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCSH were changed from Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related to Multiple mitochondrial dysfunctions syndrome 7, MIM#\t620423",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2023-06-22T13:01:03.635960+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA2 as ready",
"entity_name": "SCA2",
"entity_type": "str"
},
{
"created": "2023-06-22T13:01:03.621500+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca2 has been classified as Green List (High Evidence).",
"entity_name": "SCA2",
"entity_type": "str"
},
{
"created": "2023-06-22T13:00:36.578163+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA2 as Green List (high evidence)",
"entity_name": "SCA2",
"entity_type": "str"
},
{
"created": "2023-06-22T13:00:36.564074+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca2 has been classified as Green List (High Evidence).",
"entity_name": "SCA2",
"entity_type": "str"
},
{
"created": "2023-06-22T12:57:52.502274+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA2 was added\nSTR: SCA2 was added to Motor Neurone Disease. Sources: Literature\nMode of inheritance for STR: SCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA2 were set to 20301452\nPhenotypes for STR: SCA2 were set to Spinocerebellar ataxia 2 MIM#183090\nReview for STR: SCA2 was set to GREEN\nSTR: SCA2 was marked as clinically relevant\nAdded comment: NM_002973.3:c.496_498CAG[X]\r\nToxic protein aggregation is mechanism of disease\r\nBenign: ≤31 repeats (homozygous 31/31 repeats reported for recessive SCA2)\r\nUncertain: 32 repeats\r\nALS risk allele: 30-32 repeats\r\nReduced penetrance: 33-34 repeats, may not develop symptoms or only very late in life\r\nFull penetrance: ≥35 repeats\r\nInterruption of a CAG expanded allele by a CAA repeat does not mitigate the pathogenicity of the repeat size, but may enhance the meiotic stability of the repeat \nSources: Literature",
"entity_name": "SCA2",
"entity_type": "str"
},
{
"created": "2023-06-22T11:50:31.974453+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LGALSL as ready",
"entity_name": "LGALSL",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:50:31.958044+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lgalsl has been classified as Amber List (Moderate Evidence).",
"entity_name": "LGALSL",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:49:12.358448+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LGALSL as Amber List (moderate evidence)",
"entity_name": "LGALSL",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:49:12.344213+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lgalsl has been classified as Amber List (Moderate Evidence).",
"entity_name": "LGALSL",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:41:38.848939+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LGALSL was added\ngene: LGALSL was added to Motor Neurone Disease. Sources: ClinGen\nMode of inheritance for gene: LGALSL was set to Unknown\nPublications for gene: LGALSL were set to 30940688\nPhenotypes for gene: LGALSL were set to amyotrophic lateral sclerosis MONDO:0004976\nReview for gene: LGALSL was set to AMBER\nAdded comment: Limited gene-disease validity assessment by ClinGen ALS spectrum disorder GCEP - 14/02/2023. Significant enrichment in a cohort of 3,239 ALS cases compared to 11,808 controls - OR = 14.63; P = 2.29e-6. \nSources: ClinGen",
"entity_name": "LGALSL",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:33:59.011114+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HNRNPA2B1 as ready",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:33:58.998899+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hnrnpa2b1 has been classified as Red List (Low Evidence).",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:33:36.795366+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HNRNPA2B1 was added\ngene: HNRNPA2B1 was added to Motor Neurone Disease. Sources: ClinGen\nMode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPA2B1 were set to 25299611\nPhenotypes for gene: HNRNPA2B1 were set to amyotrophic lateral sclerosis MONDO:0004976\nReview for gene: HNRNPA2B1 was set to RED\nAdded comment: Limited gene-disease validity assessment by ALS spectrum disorder GCEP - 15/12/2021. Only one variant in a single ALS proband scored. \nSources: ClinGen",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:13:47.392077+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GRN as ready",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:13:47.379852+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: grn has been classified as Green List (High Evidence).",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:13:32.119150+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GRN as Green List (high evidence)",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:13:32.097255+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: grn has been classified as Green List (High Evidence).",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:12:47.605992+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRN was added\ngene: GRN was added to Motor Neurone Disease. Sources: ClinGen\nMode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRN were set to 18184915; 23596077\nPhenotypes for gene: GRN were set to frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923\nReview for gene: GRN was set to GREEN\ngene: GRN was marked as current diagnostic\nAdded comment: Well-established FTD gene. ALS has been reported in association with some GRN variants, but appears to be a rare occurrence. \nSources: ClinGen",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:03:11.608418+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.182",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GLT8D1 as ready",
"entity_name": "GLT8D1",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:03:11.598409+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.182",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: glt8d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GLT8D1",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:02:43.521251+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.182",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GLT8D1 as Amber List (moderate evidence)",
"entity_name": "GLT8D1",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:02:43.506885+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.182",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: glt8d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GLT8D1",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:01:48.198242+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FIG4 as ready",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:01:48.181326+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fig4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:01:04.345201+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FIG4 were changed from to Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945; MIM#612577)",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2023-06-22T11:00:23.995567+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.180",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FIG4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2023-06-22T10:56:31.279467+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FIG4 as Amber List (moderate evidence)",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2023-06-22T10:56:31.274283+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 09/08/2022",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2023-06-22T10:56:31.206830+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fig4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2023-06-22T10:37:59.550763+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EWSR1 as Red List (low evidence)",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2023-06-22T10:37:59.545286+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Disputed gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 11/10/2022",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2023-06-22T10:37:59.515417+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ewsr1 has been classified as Red List (Low Evidence).",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2023-06-22T10:36:55.584316+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.945",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EWSR1 as Red List (low evidence)",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2023-06-22T10:36:55.578380+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.945",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Disputed gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 11/10/2022",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2023-06-22T10:36:55.502990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.945",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ewsr1 has been classified as Red List (Low Evidence).",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2023-06-22T10:30:15.884297+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERBB4 as Amber List (moderate evidence)",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2023-06-22T10:30:15.878163+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorder GCEP - 30/09/2021",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2023-06-22T10:30:15.798022+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: erbb4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2023-06-22T08:27:36.547198+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DAO",
"entity_type": "gene"
}
]
}