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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=436",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=434",
"results": [
{
"created": "2024-06-13T14:30:51.865817+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcee has been classified as Green List (High Evidence).",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:30:29.861946+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX59 as ready",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:30:29.842762+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx59 has been classified as Red List (Low Evidence).",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:30:17.381831+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX59 as Red List (low evidence)",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:30:17.366152+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx59 has been classified as Red List (Low Evidence).",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:29:18.863529+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR7 as ready",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:29:18.844022+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Red List (Low Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:19:14.371078+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHCR7 as Red List (low evidence)",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:19:14.347041+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Red List (Low Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:18:31.711925+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIAPH1 as ready",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:18:31.698429+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph1 has been classified as Red List (Low Evidence).",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:18:19.106086+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DIAPH1 as Red List (low evidence)",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:18:19.092042+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph1 has been classified as Red List (Low Evidence).",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:17:27.790809+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNA as ready",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:17:27.770759+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Green List (High Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:17:22.584720+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMNA as Green List (high evidence)",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:17:22.560227+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Green List (High Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:16:10.773016+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DUOX2 as ready",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:16:10.752542+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: duox2 has been classified as Red List (Low Evidence).",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:16:00.964435+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DUOX2 as Red List (low evidence)",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:16:00.933283+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: duox2 has been classified as Red List (Low Evidence).",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:15:17.919465+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPG5 as ready",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:15:17.905658+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Red List (Low Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:15:13.714551+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPG5 as Red List (low evidence)",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:15:13.689764+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Red List (Low Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:14:24.187731+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC8 were set to 33528536; 30279719",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:07:20.967592+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.275",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Cockayne syndrome MIM#216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2024-06-13T14:04:43.418410+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.275",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: EPG5 was added\ngene: EPG5 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPG5 were set to PMID: 38693247\nPhenotypes for gene: EPG5 were set to Vici syndrome, MIM#242840\nReview for gene: EPG5 was set to RED\nAdded comment: 1 individual reported with a homozygous stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Vici syndrome is a neurodevelopmental and immunological disorder affecting multiple systems. Structural abnormalities of the brain along with profound psychomotor retardation have been reported. \nSources: Literature",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2024-06-13T13:18:58.960742+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.275",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: DUOX2 was added\ngene: DUOX2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DUOX2 were set to PMID: 38693247\nPhenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis 6, MIM#607200\nReview for gene: DUOX2 was set to RED\nAdded comment: 1 individual reported with biallelic variants (1 missense, 1 stopgain) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Congenital hypothyroidism is associated with increased risk of cerebral palsy if untreated, amongst other developmental sequelae. \nSources: Literature",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2024-06-13T13:14:42.158186+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.183",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMNA were set to PMID: 32913962\nPhenotypes for gene: LMNA were set to Laminopathy (MONDO#0021106), LMNA-related\nReview for gene: LMNA was set to GREEN\nAdded comment: PMID: 32913962; Total of 13 individuals heterozygous for the R349W variant. Recurrent phenotypes in these individuals include partial lipodystrophy, proteinuric nephropathy, cardiopathies and sensorineural hearing impairment. \r\nHearing impairment was identified in 66% of the patients (6/9 individuals, 4 were not reported) and ranged from reduction or complete sensorineural deafness. \nSources: Literature",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-06-13T12:35:48.086445+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.275",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: DIAPH1 was added\ngene: DIAPH1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: DIAPH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DIAPH1 were set to PMID: 38693247; 34125151\nPhenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, and microcephaly syndrome, MIM#616632\nReview for gene: DIAPH1 was set to AMBER\nAdded comment: 1 individual reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \r\n\r\nDe novo and rare, transmitted damaging variants in DIAPH1 have been reported as a risk factor for Moyamoya disease resulting in ischemic stroke, however CP was not reported as a sequelae in this case series (PMID:34125151). \nSources: Literature",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2024-06-13T11:52:10.509191+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.275",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR7 were set to PMID: 38693247\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, MIM#270400\nReview for gene: DHCR7 was set to RED\nAdded comment: 1 individual reported with biallelic P/LP variants (1 missense, 1 frameshift) in a large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Hypotonia in infancy followed by later hypertonia are described, usually presenting with multiple congenital anomalies. \nSources: Literature",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2024-06-13T11:38:55.775513+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.275",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: DDX59: Changed rating: RED",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2024-06-13T11:38:09.506633+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.275",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: DDX59 was added\ngene: DDX59 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDX59 were set to PMID: 38693247\nPhenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, MIM#174300\nAdded comment: 1 individual reported with biallelic variants (1 missense, 1 frameshift) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. OFD5 has not been previously associated with CP, however white matter abnormalities on MRI have been reported. \nSources: Literature",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2024-06-13T10:09:27.979400+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Involved in the metabolism of cobalamin (vitamin B12). Serum B12 levels are measures as part of the diagnosis of this condition. \nSources: Expert list; to: It is not directly involved in cobalamin (vitamin B12) metabolism, but serum B12 levels are measured in diagnosing this condition. Included as a differential diagnosis.\r\nSources: Expert list",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2024-06-13T10:08:55.453979+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Involved in cobalamin (vitamin B12) metabolism. Serum B12 levels are measured in the diagnosis of this condition. \nSources: Expert list; to: It is not directly involved in cobalamin (vitamin B12) metabolism, but serum B12 levels are measured in diagnosing this condition. Included as a differential diagnosis.\r\nSources: Expert list",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-06-12T20:47:29.346222+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KYNU as ready",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2024-06-12T20:47:29.324202+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kynu has been classified as Green List (High Evidence).",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2024-06-12T20:47:22.976048+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KYNU as Green List (high evidence)",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2024-06-12T20:47:22.961078+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kynu has been classified as Green List (High Evidence).",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2024-06-12T20:47:01.775664+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMBRD1 as ready",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2024-06-12T20:47:01.756688+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmbrd1 has been classified as Green List (High Evidence).",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2024-06-12T20:46:57.101463+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMBRD1 as Green List (high evidence)",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2024-06-12T20:46:57.085182+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmbrd1 has been classified as Green List (High Evidence).",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2024-06-12T12:42:08.664361+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MCEE as Green List (high evidence)",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2024-06-12T12:42:08.647456+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mcee has been classified as Green List (High Evidence).",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2024-06-12T12:41:57.238172+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MCEE was added\ngene: MCEE was added to Vitamin metabolism disorders. Sources: Expert list\nMode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCEE were set to 20301409\nPhenotypes for gene: MCEE were set to methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615\nReview for gene: MCEE was set to GREEN\ngene: MCEE was marked as current diagnostic\nAdded comment: Involved in the metabolism of cobalamin (vitamin B12). Serum B12 levels are measures as part of the diagnosis of this condition. \nSources: Expert list",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2024-06-12T12:37:13.810660+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MUT as ready",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-06-12T12:37:13.796680+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mut has been classified as Green List (High Evidence).",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-06-12T12:37:05.302979+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MUT as Green List (high evidence)",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-06-12T12:37:05.287559+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mut has been classified as Green List (High Evidence).",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-06-12T12:36:47.556196+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MUT was added\ngene: MUT was added to Vitamin metabolism disorders. Sources: Expert list\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MUT were set to 20301409\nPhenotypes for gene: MUT were set to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612\nReview for gene: MUT was set to GREEN\ngene: MUT was marked as current diagnostic\nAdded comment: Involved in cobalamin (vitamin B12) metabolism. Serum B12 levels are measured in the diagnosis of this condition. \nSources: Expert list",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-06-08T20:02:19.982290+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.59",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: LMBRD1 was added\ngene: LMBRD1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LMBRD1 were set to 20301503; 19136951; 32875039; 20127417; 21303734\nPhenotypes for gene: LMBRD1 were set to methylmalonic aciduria and homocystinuria type cblF MONDO:0010183\nReview for gene: LMBRD1 was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 26/03/2021 - https://search.clinicalgenome.org/CCID:005290\r\n\r\nReported in multiple individuals with evidence of defective cobalamin metabolism. \r\nMechanism of disease appears to be loss of function leading to a defective release of cobalamin from lysosomes. \nSources: ClinGen",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2024-06-08T19:31:39.252286+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.59",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: KYNU: Changed publications: 37499065, 28792876, 33942433, 31923704, 17334708, 34200361",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2024-06-08T19:31:01.715933+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.59",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KYNU was added\ngene: KYNU was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KYNU were set to 37499065, 28792876, 33942433, 31923704, 17334708, 34200361\nPhenotypes for gene: KYNU were set to vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060555\nReview for gene: KYNU was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 12/05/2023 - https://search.clinicalgenome.org/CCID:005259\r\n\r\nReported in >5 unrelated probands with an error in synthesis of NAD from tryptophan. Mouse model recapitulates human phenotype while on a NAD-restricted diet. \nSources: ClinGen",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2024-06-08T19:09:07.758139+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.59",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KMO was added\ngene: KMO was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: KMO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KMO were set to 28187857, 24189070\nPhenotypes for gene: KMO were set to pellagra MONDO:0019975\nReview for gene: KMO was set to RED\nAdded comment: Classified as no known disease relationship by ClinGen Aminoacidopathy GCEP on 12/05/2023 - https://search.clinicalgenome.org/CCID:005248\r\n\r\nOnly two knock out mouse models have ben reported that exhibited behavioural changes including memory impairment and anxiety like behaviour. Not reported as disease causing in any affected individuals at this stage and no evidence of any inborn errors of amino acid metabolism. \nSources: ClinGen",
"entity_name": "KMO",
"entity_type": "gene"
},
{
"created": "2024-06-08T18:59:40.148650+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.59",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: HYKK was added\ngene: HYKK was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: HYKK was set to Unknown\nPublications for gene: HYKK were set to 23242558\nPhenotypes for gene: HYKK were set to inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351\nReview for gene: HYKK was set to RED\nAdded comment: No known gene-disease association as classified by ClinGen Aminoacidopathy GCEP on 14/07/2023 - https://search.clinicalgenome.org/CCID:005104\r\n\r\nHYKK has been reported as a disorders of lysine, hydroxylysine, and tryptophan metabolism by ICIMD however there are no reported pathogenic variants in this gene to support the gene-disease association. \nSources: ClinGen",
"entity_name": "HYKK",
"entity_type": "gene"
},
{
"created": "2024-06-07T15:57:24.688170+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.59",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: HPD was added\ngene: HPD was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HPD were set to 10942115, 11073718, 28649543, 11073718, 31342835\nPhenotypes for gene: HPD were set to tyrosinemia type III MONDO:0010162; hawkinsinuria MONDO:0007700\nReview for gene: HPD was set to GREEN\nAdded comment: Tyrosinemia type III - AR and Hawkinsinuria - AD\r\n\r\nClinGen classified limited evidence for the AD gene-disease association on 17/11/2023 and definitive for AR gene-disease association on 29/06/2020.\r\n\r\nEstablished gene-disease association. Reported individuals reported with inborn errors of amino acid metabolism. \nSources: ClinGen",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2024-06-07T15:32:22.737690+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.59",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: HIBADH was added\ngene: HIBADH was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIBADH were set to 34176136; 35174513\nPhenotypes for gene: HIBADH were set to 3-hydroxyisobutyric aciduria MONDO:0009371\nReview for gene: HIBADH was set to RED\nAdded comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 24/03/2023 - https://search.clinicalgenome.org/CCID:005058\r\n\r\nReported in 3 probands however there is lack of clinical evidence to show that hydroxyisobutyrate dehydrogenase deficiency leads to their clinical phenotype. \nSources: ClinGen",
"entity_name": "HIBADH",
"entity_type": "gene"
},
{
"created": "2024-06-07T15:11:57.027229+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.59",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: HGD was added\ngene: HGD was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HGD were set to 8782815; 9529363; 9154114; 9674916\nPhenotypes for gene: HGD were set to alkaptonuria MONDO:0008753\nReview for gene: HGD was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:005055\r\n\r\nWell established gene-disease association with reported individuals showing evidence of abnormal biochemical function. \nSources: ClinGen",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:56:44.868779+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAPSN were set to 18252226",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:55:58.566381+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAPSN as Green List (high evidence)",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:55:58.537250+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rapsn has been classified as Green List (High Evidence).",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:53:54.431534+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAL as ready",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:53:54.418776+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hal has been classified as Red List (Low Evidence).",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:53:49.757486+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HAL as Red List (low evidence)",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:53:49.737034+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hal has been classified as Red List (Low Evidence).",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:53:34.415379+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAAO as ready",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:53:34.393480+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: haao has been classified as Green List (High Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:53:30.432988+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HAAO as Green List (high evidence)",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:53:30.414477+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: haao has been classified as Green List (High Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:53:16.916722+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSTZ1 as ready",
"entity_name": "GSTZ1",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:53:16.896133+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gstz1 has been classified as Red List (Low Evidence).",
"entity_name": "GSTZ1",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:53:12.567178+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSTZ1 as Red List (low evidence)",
"entity_name": "GSTZ1",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:53:12.542068+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gstz1 has been classified as Red List (Low Evidence).",
"entity_name": "GSTZ1",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:52:51.728052+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSS as ready",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:52:51.707091+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gss has been classified as Green List (High Evidence).",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:52:48.569512+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSS as Green List (high evidence)",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:52:48.555531+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gss has been classified as Green List (High Evidence).",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:52:34.499956+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNMT as ready",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:52:34.485317+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnmt has been classified as Red List (Low Evidence).",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:52:31.107735+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNMT as Red List (low evidence)",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:52:31.094642+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnmt has been classified as Red List (Low Evidence).",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:52:18.382592+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLUL as ready",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:52:18.355183+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glul has been classified as Green List (High Evidence).",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:52:13.954972+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLUL as Green List (high evidence)",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:52:13.941433+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glul has been classified as Green List (High Evidence).",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:51:55.840894+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLUD1 as ready",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:51:55.808832+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glud1 has been classified as Green List (High Evidence).",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:51:49.920804+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLUD1 as Green List (high evidence)",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:51:49.906722+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glud1 has been classified as Green List (High Evidence).",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:51:35.540563+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLS as ready",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:51:35.505603+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gls has been classified as Green List (High Evidence).",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:51:26.005892+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLS as Green List (high evidence)",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:51:25.971225+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gls has been classified as Green List (High Evidence).",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:51:11.961721+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLDC as ready",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:51:11.938483+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gldc has been classified as Green List (High Evidence).",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:51:08.727139+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLDC as Green List (high evidence)",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:51:08.706977+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gldc has been classified as Green List (High Evidence).",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:50:54.215244+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCSH as ready",
"entity_name": "GCSH",
"entity_type": "gene"
}
]
}