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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=422",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=420",
"results": [
{
"created": "2024-07-19T14:43:40.947512+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PEPD as Green List (high evidence)",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:43:40.934770+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pepd has been classified as Green List (High Evidence).",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:42:38.450960+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPLAH as ready",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:42:38.434062+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oplah has been classified as Red List (Low Evidence).",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:42:31.485556+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OPLAH as Red List (low evidence)",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:42:31.466628+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oplah has been classified as Red List (Low Evidence).",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:42:03.964805+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFE2L2 as ready",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:42:03.942629+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfe2l2 has been classified as Green List (High Evidence).",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:37:33.209709+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFE2L2 as Green List (high evidence)",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:37:33.196013+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfe2l2 has been classified as Green List (High Evidence).",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:37:15.406303+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSR as ready",
"entity_name": "GSR",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:37:15.385451+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsr has been classified as Amber List (Moderate Evidence).",
"entity_name": "GSR",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:37:10.802939+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSR as Amber List (moderate evidence)",
"entity_name": "GSR",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:37:10.786738+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsr has been classified as Amber List (Moderate Evidence).",
"entity_name": "GSR",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:36:48.684265+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRHPR as ready",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:36:48.663924+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhpr has been classified as Green List (High Evidence).",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:36:39.541875+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRHPR as Green List (high evidence)",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:36:39.528080+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhpr has been classified as Green List (High Evidence).",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:36:15.039575+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPX4 as ready",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:36:15.020066+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpx4 has been classified as Green List (High Evidence).",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:36:04.472962+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPX4 as Green List (high evidence)",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:36:04.459355+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpx4 has been classified as Green List (High Evidence).",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:35:48.946896+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCLC as ready",
"entity_name": "GCLC",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:35:48.927063+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gclc has been classified as Green List (High Evidence).",
"entity_name": "GCLC",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:35:45.065970+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GCLC as Green List (high evidence)",
"entity_name": "GCLC",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:35:45.036537+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gclc has been classified as Green List (High Evidence).",
"entity_name": "GCLC",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:35:28.336270+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRM6 as ready",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:35:28.320963+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm6 has been classified as Green List (High Evidence).",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:35:14.544367+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRM6 as Green List (high evidence)",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:35:14.528599+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm6 has been classified as Green List (High Evidence).",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2024-07-19T13:32:42.126060+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2024-07-19T10:56:22.507050+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GRM6 was added\ngene: GRM6 was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRM6 were set to 22008250\nPhenotypes for gene: GRM6 were set to GRM6-related retinopathy MONDO:0800397\nReview for gene: GRM6 was set to GREEN\nAdded comment: GRM6-related retinopathy is a glutamate neurotransmitter disorders affecting the ON-centre of the retinal ganglion cells. \r\n\r\n>5 unrelated families with a night blindness phenotype due to a defective signal transmission at the ON-centre. \nSources: Other",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2024-07-19T10:47:52.039158+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SLC25A22 was added\ngene: SLC25A22 was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A22 were set to 15592994; 19780765; 24596948\nPhenotypes for gene: SLC25A22 were set to Developmental and epileptic encephalopathy MONDO:0100062\nReview for gene: SLC25A22 was set to GREEN\nAdded comment: Established gene-disease association with reported individuals having impaired mitochondrial glutamate transport. \r\nThree unrelated families reported with three different rare missense variants. \nSources: Other",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2024-07-19T10:40:48.645081+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: XPNPEP3 was added\ngene: XPNPEP3 was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XPNPEP3 were set to 32660933; 20179356\nPhenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 MONDO:0013163\nReview for gene: XPNPEP3 was set to GREEN\nAdded comment: XPNPEP3 is member of the X-pro-aminopeptidases family.\r\n\r\nA total of 3 unrelated families (with different variants) reported with abnormal renal function due to an inborn error of peptide metabolism \r\n\r\n32660933 - individual case with a rare frameshift variant p.Q241Tfs*13 who also had evidence of an inborn error of peptide metabolism. \nSources: Other",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2024-07-19T10:20:25.507961+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PEPD was added\ngene: PEPD was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEPD were set to 2365824; 19308961; 16470701\nPhenotypes for gene: PEPD were set to Prolidase deficiency MONDO:0008221\nReview for gene: PEPD was set to GREEN\nAdded comment: Well established gene-disease association with >10 individuals reported with variants in PEPD and a clinical phenotype associated with prolidase deficiency. \r\nProlidase deficiency is a classified inborn error of amino acid metabolism. \r\nLoF appears to be the mechanism of disease (https://search.clinicalgenome.org/CCID:007640) \nSources: Other",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2024-07-19T10:12:03.661101+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: PYCR2: Changed rating: GREEN",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2024-07-19T10:11:50.648518+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Has been reported in 10 consanguineous families with different variants (frameshift, missense, splice). The affected individuals all had neurological clinical presentation however upon biochemical assessment, plasma proline levels were normal (showed no depletion). There is not enough evidence to indicate that these individuals have a phenotype consistent with an inborn error of amino acid metabolism. \nSources: Other; to: Has been reported in 10 consanguineous families with different variants (frameshift, missense, splice). The affected individuals all had neurological clinical presentation along with other phenotypes including failure to thrive. \r\n \r\nSources: Other",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2024-07-19T09:42:42.753163+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PYCR2 was added\ngene: PYCR2 was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYCR2 were set to 25865492; 27130255\nPhenotypes for gene: PYCR2 were set to Hypomyelinating leukodystrophy 10 MONDO:0014632; Disorders of ornithine, proline and hydroxyproline metabolism\nReview for gene: PYCR2 was set to RED\nAdded comment: Has been reported in 10 consanguineous families with different variants (frameshift, missense, splice). The affected individuals all had neurological clinical presentation however upon biochemical assessment, plasma proline levels were normal (showed no depletion). There is not enough evidence to indicate that these individuals have a phenotype consistent with an inborn error of amino acid metabolism. \nSources: Other",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2024-07-19T09:19:53.326110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1888",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SLC7A5 was added\ngene: SLC7A5 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: SLC7A5 was set to Unknown\nPublications for gene: SLC7A5 were set to 29884839\nPhenotypes for gene: SLC7A5 were set to Large neutral amino acid transporter deficiency (MIM#600182)\nReview for gene: SLC7A5 was set to RED\nAdded comment: Classified an inborn error of amino acid metabolism by IEMbase however more evidence is required to support the gene-disease association. \nSources: Other",
"entity_name": "SLC7A5",
"entity_type": "gene"
},
{
"created": "2024-07-19T09:19:11.815874+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SLC7A5 was added\ngene: SLC7A5 was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: SLC7A5 was set to Unknown\nPublications for gene: SLC7A5 were set to 29884839\nPhenotypes for gene: SLC7A5 were set to Large neutral amino acid transporter deficiency (MIM#600182)\nReview for gene: SLC7A5 was set to RED\nAdded comment: Classified an inborn error of amino acid metabolism by IEMbase however more evidence is required to support the gene-disease association. \nSources: Other",
"entity_name": "SLC7A5",
"entity_type": "gene"
},
{
"created": "2024-07-19T08:41:28.207197+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SLC6A20 was added\ngene: SLC6A20 was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC6A20 were set to 36820062; 19033659; 24816252\nPhenotypes for gene: SLC6A20 were set to Hyperglycinuria MONDO:0007677\nReview for gene: SLC6A20 was set to RED\nAdded comment: Only one family reported with a rare missense variant and a clinical phenotype consistent with an inborn error of amino acid metabolism. \r\n\r\nCases have been reported in 19033659 and 24816252 however the variant is too common for a mendelian disease. \r\n\r\nNo other new publications have been released supporting the gene-disease association with relation to evidence of a biochemical abnormality. \nSources: Other",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-07-18T21:15:49.398483+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.281",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33141514; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2024-07-18T20:59:12.369803+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: First reported CAS case with a de novo HNRNPK frameshift variant (Kaspi et al., 2022; PMID: 36117209).\r\n\r\nLeonardi et al. (2023; PMID: 36434256) report 30 individuals with HNRNPK variants, of which 16 have reported speech delay (including all males with records, and several females). No mention of speech/verbal apraxia or dyspraxia though.\r\n\r\nNote: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes. \r\nSources: Expert list, Expert Review; to: First reported CAS case with a de novo KDM5C frameshift variant (Kaspi et al., 2022; PMID: 36117209).\r\n\r\nLeonardi et al. (2023; PMID: 36434256) report 30 individuals with KDM5C variants, of which 16 have reported speech delay (including all males with records, and several females). No mention of speech/verbal apraxia or dyspraxia though.\r\n\r\nNote: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes. \r\nSources: Expert list, Expert Review",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-07-18T17:54:37.433798+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: NFE2L2 was added\ngene: NFE2L2 was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFE2L2 were set to 29018201\nPhenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591; Disorders of glutathione metabolism\nReview for gene: NFE2L2 was set to GREEN\nAdded comment: 4 unrelated patients with de novo missense variants affected with a multisystem disorder with failure to thrive, immunodeficiency and neurological symptoms including an inborn error of amino acid metabolism. \nSources: Other",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2024-07-18T17:28:36.977971+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GPX4 was added\ngene: GPX4 was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPX4 were set to 24706940; 32827718\nPhenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593; Disorders of glutathione metabolism\nReview for gene: GPX4 was set to GREEN\nAdded comment: SSMD is an inborn error of gluthathione metabolism. Reports of four children (two were siblings from a consanguineous family) with SSMD. Parents were unaffected carriers. \r\nLoF is the mechanism of disease. \nSources: Other",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2024-07-18T17:22:32.335091+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GSR was added\ngene: GSR was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: GSR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GSR were set to 17185460; 31122244\nPhenotypes for gene: GSR were set to Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531; Disorders of glutathione metabolism\nReview for gene: GSR was set to AMBER\nAdded comment: Not an established gene-disease association however there have been reports of two families reported with GR deficiency and there has been a report of functional evidence as well. More concrete evidence of biochemical abnormalities is required to promote the gene to green. \nSources: Other",
"entity_name": "GSR",
"entity_type": "gene"
},
{
"created": "2024-07-18T17:14:03.138276+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: OPLAH was added\ngene: OPLAH was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: OPLAH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OPLAH were set to 27477828; 27604308\nPhenotypes for gene: OPLAH were set to 5-oxoprolinase deficiency MONDO:0009825; Disorders of glutathione metabolism\nReview for gene: OPLAH was set to RED\nAdded comment: Variants have been reported in individuals however it appears that this inborn error of glutathione metabolism appears to be of benign nature. \nSources: Other",
"entity_name": "OPLAH",
"entity_type": "gene"
},
{
"created": "2024-07-18T16:35:12.771339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1888",
"user_name": "Mark Cleghorn",
"item_type": "entity",
"text": "gene: CRNKL1 was added\ngene: CRNKL1 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CRNKL1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CRNKL1 was set to GREEN\nAdded comment: Unpublished, presented at ESHG June 2024 - Louise Bicknell, University of Otago NZ\r\n8 unrelated families via gene matcher with rare, de novo, missense variants in CRNKL1\r\nsevere microcephaly (all, -8 to -11 SD)\r\nID/epilepsy\r\npontocerebellar hypoplasia (6/8)\r\nsimplified gyration (8/8)\r\n7 variants are missense at p.Arg267 residue\r\n1 variant missense at p.Arg301\r\nRNA-seq on patient fibroblasts - no alteration in gene expression\r\nZebrafish homolog of Arg267 and Arg301 - mimics observed phenotype (reduced brain development), increased in embryo apoptosis\r\nRNA seq on affected zebrafish embryos - transcriptome strongly disrupted\r\nSplicing analysis in progress\r\n\r\nCRKNL1 supports U6 structure in spliceosome \nSources: Other",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:51:53.012261+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GCLC was added\ngene: GCLC was added to Aminoacidopathy. Sources: Other\nMode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GCLC were set to 28571779; 10515893; 18024385\nPhenotypes for gene: GCLC were set to Gamma-glutamylcysteine synthetase deficiency MONDO:0009259; Disorders of glutathione metabolism\nReview for gene: GCLC was set to GREEN\nAdded comment: Established gene-disease association with >3 unrelated probands reported with GCLC deficiency which is an inborn error of amino acid metabolism. \nSources: Other",
"entity_name": "GCLC",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:51:11.883357+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A15 as ready",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:51:11.859498+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a15 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:51:05.714046+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A15 as Green List (high evidence)",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:51:05.694327+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a15 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:50:13.121321+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC36A2 as ready",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:50:13.099655+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc36a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:45:21.572207+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC36A2 as Red List (low evidence)",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:45:21.557738+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc36a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:44:55.273471+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC38A8 as ready",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:44:55.260921+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc38a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:44:45.681861+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC38A8 as Green List (high evidence)",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:44:45.666299+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc38a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:44:24.965385+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC3A1 as ready",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:44:24.946906+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc3a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:44:11.154178+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC3A1 as Green List (high evidence)",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:44:11.139682+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc3a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:43:47.818903+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A19 as ready",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:43:47.806218+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a19 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:43:39.602668+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A19 as Green List (high evidence)",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:43:39.584674+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a19 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:43:16.683087+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A6 as ready",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:43:16.670126+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:43:04.446895+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A6 as Amber List (moderate evidence)",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:43:04.434183+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:42:36.471057+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A8 as ready",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:42:36.452906+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:42:27.943529+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A8 as Green List (high evidence)",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:42:27.886088+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:41:49.352317+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A7 as ready",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:41:49.338373+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:41:45.013582+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC7A7 as Green List (high evidence)",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:41:44.981791+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:41:19.172748+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A9 as ready",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:41:19.147873+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:41:13.551054+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC7A9 as Green List (high evidence)",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:41:13.529350+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:40:47.503479+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPR as ready",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:40:47.469863+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spr has been classified as Green List (High Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:40:41.108690+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPR as Green List (high evidence)",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:40:41.095613+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spr has been classified as Green List (High Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:40:13.111071+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUGCT as ready",
"entity_name": "SUGCT",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:40:13.097992+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sugct has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUGCT",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:40:02.885581+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUGCT as Amber List (moderate evidence)",
"entity_name": "SUGCT",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:40:02.855647+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sugct has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUGCT",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:39:38.219456+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUOX as ready",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:39:38.200888+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:39:31.260582+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUOX as Green List (high evidence)",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:39:31.246618+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:38:58.876114+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAT as ready",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:38:58.857560+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tat has been classified as Green List (High Evidence).",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2024-07-18T15:38:53.669093+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAT as Green List (high evidence)",
"entity_name": "TAT",
"entity_type": "gene"
}
]
}