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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=437",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=435",
"results": [
{
"created": "2024-06-07T11:50:54.198853+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.50",
"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": "2024-06-07T11:50:51.221732+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GCSH as Green List (high evidence)",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:50:51.206143+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.50",
"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": "2024-06-07T11:50:34.277031+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCH1 as ready",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:50:34.262783+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gch1 has been classified as Green List (High Evidence).",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:50:31.498476+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GCH1 as Green List (high evidence)",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:50:31.472880+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gch1 has been classified as Green List (High Evidence).",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:50:14.883694+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCDH as ready",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:50:14.870475+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcdh has been classified as Green List (High Evidence).",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:50:11.158554+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GCDH as Green List (high evidence)",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:50:11.140731+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcdh has been classified as Green List (High Evidence).",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:42:58.129062+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUZ as ready",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:42:58.113316+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuz has been classified as Green List (High Evidence).",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:39:40.047834+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUZ were changed from Neural tube defects 182940 to Neural tube defects 182940; Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:39:17.897698+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FUZ were set to 21840926",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:38:56.622616+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FUZ was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:38:46.777113+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUZ were changed from Ciliopathy_MONDO_0005308; skeletal ciliopathy to Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:37:52.808195+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUZ as ready",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:37:52.791710+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuz has been classified as Green List (High Evidence).",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:37:49.387322+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUZ were changed from Ciliopathy_MONDO_0005308; skeletal ciliopathy to Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:36:55.099085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUZ were changed from {Neural tube defects, susceptibility to}\tMIM#182940; craniosynostosis, FUZ-related MONDO#0015469 to {Neural tube defects, susceptibility to}\tMIM#182940; craniosynostosis, FUZ-related MONDO#0015469; Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:36:27.130643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FUZ were set to 21840926",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:35:50.537825+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUZ as ready",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:35:50.523454+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuz has been classified as Green List (High Evidence).",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:35:37.338897+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUZ were changed from Ciliopathy_MONDO_0005308; skeletal ciliopathy to Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:34:48.281555+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUZ were changed from Ciliopathy_MONDO_0005308; skeletal ciliopathy to Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:33:40.483422+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATXN7L3 as ready",
"entity_name": "ATXN7L3",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:33:40.467169+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atxn7l3 has been classified as Green List (High Evidence).",
"entity_name": "ATXN7L3",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:33:29.418881+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATXN7L3 were changed from Neurodevelopmental disorder, MONDO_0100500 to Neurodevelopmental disorder, MONDO_0100500, ATXN7L3-related",
"entity_name": "ATXN7L3",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:32:36.667173+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATXN7L3 as ready",
"entity_name": "ATXN7L3",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:32:36.614330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atxn7l3 has been classified as Green List (High Evidence).",
"entity_name": "ATXN7L3",
"entity_type": "gene"
},
{
"created": "2024-06-07T11:32:29.775480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATXN7L3 were changed from Neurodevelopmental disorder, MONDO_0100500 to Neurodevelopmental disorder, MONDO_0100500, ATXN7L3-related",
"entity_name": "ATXN7L3",
"entity_type": "gene"
},
{
"created": "2024-06-07T10:21:14.789440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STK33 as ready",
"entity_name": "STK33",
"entity_type": "gene"
},
{
"created": "2024-06-07T10:21:14.775706+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stk33 has been classified as Red List (Low Evidence).",
"entity_name": "STK33",
"entity_type": "gene"
},
{
"created": "2024-06-07T10:20:59.621346+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STK33 was added\ngene: STK33 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: STK33 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STK33 were set to 34155512; 29155043\nPhenotypes for gene: STK33 were set to Spermatogenic failure 93, MIM#620849\nReview for gene: STK33 was set to RED\nAdded comment: Four brothers with a homozygous variant and an animal model. \nSources: Literature",
"entity_name": "STK33",
"entity_type": "gene"
},
{
"created": "2024-06-07T10:16:26.835237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAT6 as ready",
"entity_name": "NAT6",
"entity_type": "gene"
},
{
"created": "2024-06-07T10:16:26.822168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat6 has been classified as Red List (Low Evidence).",
"entity_name": "NAT6",
"entity_type": "gene"
},
{
"created": "2024-06-07T10:16:16.398598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAT6 was added\ngene: NAT6 was added to Mendeliome. Sources: Literature\nnew gene name tags were added to gene: NAT6.\nMode of inheritance for gene: NAT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAT6 were set to 34805998\nPhenotypes for gene: NAT6 were set to Auroneurodental syndrome, MIM# 620830\nReview for gene: NAT6 was set to RED\nAdded comment: Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies.\r\n\r\nHGNC approved name is NAA80. \nSources: Literature",
"entity_name": "NAT6",
"entity_type": "gene"
},
{
"created": "2024-06-07T10:14:37.809486+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies. \nSources: Literature; to: Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies. \r\n\r\nHGNC approved name is NAA80.\r\n\r\nSources: Literature",
"entity_name": "NAT6",
"entity_type": "gene"
},
{
"created": "2024-06-07T10:14:20.261225+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAT6 as ready",
"entity_name": "NAT6",
"entity_type": "gene"
},
{
"created": "2024-06-07T10:14:20.244908+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat6 has been classified as Red List (Low Evidence).",
"entity_name": "NAT6",
"entity_type": "gene"
},
{
"created": "2024-06-07T10:13:56.648640+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAT6 was added\ngene: NAT6 was added to Deafness_IsolatedAndComplex. Sources: Literature\nnew gene name tags were added to gene: NAT6.\nMode of inheritance for gene: NAT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAT6 were set to 34805998\nPhenotypes for gene: NAT6 were set to Auroneurodental syndrome, MIM# \t620830\nReview for gene: NAT6 was set to RED\nAdded comment: Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies. \nSources: Literature",
"entity_name": "NAT6",
"entity_type": "gene"
},
{
"created": "2024-06-07T10:08:51.278069+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.47",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: HAL was added\ngene: HAL was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: HAL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HAL were set to 15806399\nPhenotypes for gene: HAL were set to histidinemia MONDO:0009345\nReview for gene: HAL was set to RED\nAdded comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 17/11/2023 - https://search.clinicalgenome.org/CCID:005031\r\n\r\nMetabolic disorder appears to be benign in most reported affected individuals. \nSources: ClinGen",
"entity_name": "HAL",
"entity_type": "gene"
},
{
"created": "2024-06-07T09:56:00.626370+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.47",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: HAAO was added\ngene: HAAO was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HAAO were set to 37499065; 28792876; 33942433\nPhenotypes for gene: HAAO were set to vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0060554\nReview for gene: HAAO was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 24/06/2022 - https://search.clinicalgenome.org/CCID:005026\r\n\r\nReported in >3 unrelated probands with biochemical abnormalities. LoF appears to be the mechanism of disease. \nSources: ClinGen",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2024-06-07T09:43:39.717615+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.47",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GSTZ1 was added\ngene: GSTZ1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: GSTZ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GSTZ1 were set to 27876694\nPhenotypes for gene: GSTZ1 were set to maleylacetoacetate isomerase deficiency MONDO:0060527\nReview for gene: GSTZ1 was set to RED\nAdded comment: Classified Moderate by ClinGen Aminoacidopathy GCEP on 09/09/2022 -https://search.clinicalgenome.org/CCID:005017\r\n\r\n6 probands have been reported with mild hypersuccinylacetonaemia (MHSA). The reported individuals remained well without receiving any treatment or change in diet. \nSources: ClinGen",
"entity_name": "GSTZ1",
"entity_type": "gene"
},
{
"created": "2024-06-06T15:45:35.220199+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6036",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from Cowden syndrome 1 MIM#158350; Macrocephaly/autism syndrome MIM#605309 to Cowden syndrome 1 MIM#158350; Macrocephaly/autism syndrome MIM#605309; PTEN hamartoma tumor syndrome MONDO:0017623",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-06-06T15:45:29.571167+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.12",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309 to Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309; PTEN hamartoma tumor syndrome MONDO:0017623",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-06-06T15:32:01.498681+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.47",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GSS was added\ngene: GSS was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GSS were set to 17397529\nPhenotypes for gene: GSS were set to inherited glutathione synthetase deficiency MONDO:0017909\nReview for gene: GSS was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 26/04/2019 -https://search.clinicalgenome.org/CCID:005016\r\n\r\nWell established gene-disease association with reported individuals having errors in glutathione metabolism. \nSources: ClinGen",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2024-06-06T15:12:00.694651+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.47",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GNMT was added\ngene: GNMT was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNMT were set to 11810299; 14739680\nPhenotypes for gene: GNMT were set to glycine N-methyltransferase deficiency MONDO:0011698\nReview for gene: GNMT was set to RED\nAdded comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 -https://search.clinicalgenome.org/CCID:004979 \nSources: ClinGen",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2024-06-06T15:04:11.334360+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.47",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GLUL was added\ngene: GLUL was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLUL were set to 25870278; 20140959; 30053506\nPhenotypes for gene: GLUL were set to congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012393\nReview for gene: GLUL was set to GREEN\nAdded comment: Classified Moderate by ClinGen Aminoacidopathy GCEP on 12/12/2022 - https://search.clinicalgenome.org/CCID:004969\r\n\r\nAt least 5 probands from 4 unrelated families reported with glutamine deficiency. \nSources: ClinGen",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2024-06-06T14:52:04.600075+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.47",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GLUD1 was added\ngene: GLUD1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GLUD1 were set to 9571255; 11214910; 26759084\nPhenotypes for gene: GLUD1 were set to hyperinsulinism-hyperammonemia syndrome MONDO:0011717\nReview for gene: GLUD1 was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/11/2020 - https://search.clinicalgenome.org/CCID:004968\r\n\r\nWell-established gene disease association with reported individuals having a metabolic abnormality. \nSources: ClinGen",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:58:47.221945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM177A1 as ready",
"entity_name": "FAM177A1",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:58:47.204520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam177a1 has been classified as Green List (High Evidence).",
"entity_name": "FAM177A1",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:57:39.597293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM177A1 were changed from Neurodevelopmental disorder, MONDO_0100500 to Neurodevelopmental disorder, MONDO_0100500, FAM177A1-related",
"entity_name": "FAM177A1",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:56:27.941115+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM177A1 as ready",
"entity_name": "FAM177A1",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:56:27.928090+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam177a1 has been classified as Green List (High Evidence).",
"entity_name": "FAM177A1",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:56:13.910630+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM177A1 were changed from Neurodevelopmental disorder, MONDO_0100500 to Neurodevelopmental disorder, MONDO_0100500, FAM177a1-related",
"entity_name": "FAM177A1",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:54:10.219821+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PISD were changed from Liberfarb syndrome MIM#\t618889; Spondylometaphyseal dysplasia with large epiphyses to Liberfarb syndrome MIM#\t618889; Spondylometaphyseal dysplasia with large epiphyses, MONDO:0100510",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:53:18.993931+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PISD were changed from Spondylometaphyseal dysplasia with large epiphyses to Liberfarb syndrome MIM#\t618889; Spondylometaphyseal dysplasia with large epiphyses",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:51:32.749207+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PISD as Green List (high evidence)",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:51:32.736893+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pisd has been classified as Green List (High Evidence).",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:49:14.101862+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERF were changed from Craniosynostosis 4, MIM# 600775; Chitayat syndrome, MIM# 617180 to Craniosynostosis 4, MIM# 600775; Chitayat syndrome, MIM# 617180; Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:48:38.232079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERF: Changed phenotypes: Craniosynostosis 4, MIM# 600775, Chitayat syndrome, MIM# 617180, Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:47:36.193458+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERF as ready",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:47:36.180251+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erf has been classified as Green List (High Evidence).",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:47:27.106706+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERF were changed from Noonan syndrome-like with or without craniosynostosis to Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:46:44.942597+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:44:54.177463+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANO4 as ready",
"entity_name": "ANO4",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:44:54.158811+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano4 has been classified as Green List (High Evidence).",
"entity_name": "ANO4",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:44:44.827631+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANO4 as Green List (high evidence)",
"entity_name": "ANO4",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:44:44.813287+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano4 has been classified as Green List (High Evidence).",
"entity_name": "ANO4",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:42:15.564115+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A1 were set to 29315614",
"entity_name": "SLC6A1",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:41:34.246274+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC6A1: Added comment: Haploinsufficiency established as the mechanism.; Changed publications: 29315614, 38781976",
"entity_name": "SLC6A1",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:39:47.113291+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MSL2 were changed from Developmental disorders; autism to Neurodevelopmental disorder, MONDO:0700092, MSL2-related",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:38:41.761653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MSL2 were changed from Developmental disorders; autism to Neurodevelopmental disorder, MONDO:0700092, MSL2-related",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:38:01.374610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MSL2 were set to 31332282; 33057194",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:37:29.042832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MSL2 as Green List (high evidence)",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:37:29.027097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msl2 has been classified as Green List (High Evidence).",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:35:59.942124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGF were changed from Deafness, autosomal recessive 39, MIM# 608265 to Deafness, autosomal recessive 39, MIM# 608265; Lymphoedema, MONDO:0019297, HGF-related",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:35:38.739140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HGF were set to 19576567",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:35:08.776388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HGF was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:34:42.086261+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HGF: Added comment: More than 10 families reported with childhood- to late-onset lymphoedema.; Changed publications: 19576567, 38676400, 38791500; Changed phenotypes: Deafness, autosomal recessive 39, MIM# 608265, Lymphoedema, MONDO:0019297, HGF-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:08:53.024200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TKFC were changed from Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Developmental delay; cataracts; liver dysfunction to Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Inborn error of immunity, MONDO:0003778, TKFC-related",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:08:20.563327+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TKFC: Added comment: Single individual reported with homozygous variant and isolated immunodeficiency.; Changed publications: 32004446'38697782; Changed phenotypes: Triokinase and FMN cyclase deficiency syndrome, MIM#618805, Inborn error of immunity, MONDO:0003778, TKFC-related",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:07:13.061897+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported with homozygous variant. \nSources: Literature; to: Single individual reported with homozygous variant. \r\n\r\nNote relationship with syndromic ID also postulated.\r\nSources: Literature",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:06:38.128013+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TKFC as ready",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:06:38.105263+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tkfc has been classified as Red List (Low Evidence).",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:06:25.632092+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TKFC was added\ngene: TKFC was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TKFC were set to 38697782\nPhenotypes for gene: TKFC were set to Inborn error of immunity, MONDO:0003778, TKFC-related\nReview for gene: TKFC was set to RED\nAdded comment: Single individual reported with homozygous variant. \nSources: Literature",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:01:57.368571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYLC1 as ready",
"entity_name": "CYLC1",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:01:57.341268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cylc1 has been classified as Green List (High Evidence).",
"entity_name": "CYLC1",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:01:40.718120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYLC1 as Green List (high evidence)",
"entity_name": "CYLC1",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:01:40.705673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cylc1 has been classified as Green List (High Evidence).",
"entity_name": "CYLC1",
"entity_type": "gene"
},
{
"created": "2024-06-06T07:01:17.150232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYLC1 was added\ngene: CYLC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CYLC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CYLC1 were set to Spermatogenic failure, X-linked, 8, MIM#\t301119\nReview for gene: CYLC1 was set to GREEN\nAdded comment: 19 individuals and a mouse model reported. \nSources: Literature",
"entity_name": "CYLC1",
"entity_type": "gene"
},
{
"created": "2024-06-05T17:49:21.501856+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.47",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GLS was added\ngene: GLS was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLS were set to 29468182, 30575854, 30970188; 16641247\nPhenotypes for gene: GLS were set to glutaminase deficiency MONDO:0600001\nReview for gene: GLS was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 09/07/2021 - https://search.clinicalgenome.org/CCID:004965\r\n\r\n6 probands have been reported with glutaminase deficiency. Nonsense, framshift and missense variants have been reported. 5’UTR repeat expansion (680-1500 repeats; normal range 8-16 repeats) has also been reported. \r\nMouse model was also conducted that recapitulates the human phenotype (PMID: 16641247). \nSources: ClinGen",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-06-05T17:43:17.291029+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.47",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: GLDC was added\ngene: GLDC was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLDC were set to 25736695; 27362913; 26179960; 24407464\nPhenotypes for gene: GLDC were set to glycine encephalopathy MONDO:0011612\nReview for gene: GLDC was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 06/02/2019 - https://search.clinicalgenome.org/CCID:004962\r\n\r\nWell reported gene-disease association with reported individuals present with glycine encephalopathy. \nSources: ClinGen",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2024-06-05T14:03:41.203674+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUZ as ready",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-05T14:03:41.183448+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuz has been classified as Green List (High Evidence).",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-05T14:03:14.505825+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FUZ as Green List (high evidence)",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-05T14:03:14.491377+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuz has been classified as Green List (High Evidence).",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-05T11:15:27.589831+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.92",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: FLT3LG as ready",
"entity_name": "FLT3LG",
"entity_type": "gene"
}
]
}