HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=552",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=550",
"results": [
{
"created": "2023-09-07T12:37:31.675425+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1152",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: AXIN1 were changed from Caudal duplication anomaly, MIM# 607864 to Caudal duplication anomaly, MIM# 607864; Syndromic disease, (MONDO:0002254), AXIN1-related",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:37:31.345499+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1152",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: AXIN1 were set to 9335612",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:37:29.925960+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.141",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: DBR1 as Amber List (moderate evidence)",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:37:29.886216+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.141",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dbr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:37:08.314827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1151",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AXIN1 as Green List (high evidence)",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:37:08.235699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1151",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Green List (High Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:37:04.998713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1151",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: AXIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:36:54.371238+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5389",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AXIN1 as Green List (high evidence)",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:36:54.357057+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5389",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Green List (High Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:36:47.037226+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.128",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AXIN1 as ready",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:36:47.020744+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.128",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Red List (Low Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:36:43.940349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1150",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AXIN1 as Green List (high evidence)",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:36:43.924112+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1150",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Green List (High Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:36:01.033480+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5388",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AXIN1 as Green List (high evidence)",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:36:01.019601+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5388",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Green List (High Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:35:59.421208+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5387",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: RAB5C was added\ngene: RAB5C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB5C were set to PMID: 37552066\nPhenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related\nPenetrance for gene: RAB5C were set to Complete\nReview for gene: RAB5C was set to GREEN\ngene: RAB5C was marked as current diagnostic\nAdded comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.\r\n9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).\r\nAll has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). \nSources: Literature",
"entity_name": "RAB5C",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:35:39.443286+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.251",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AXIN1 as Green List (high evidence)",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:35:39.428067+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.251",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Green List (High Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:35:29.039829+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5387",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AXIN1 as ready",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:35:29.030249+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5387",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Red List (Low Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:35:07.676373+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: COL4A3BP.",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:35:02.375349+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.250",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AXIN1 as ready",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:35:02.362853+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.250",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Green List (High Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:34:53.430575+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.250",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AXIN1 as ready",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:34:53.416310+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.250",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Green List (High Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:34:51.263099+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.250",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AXIN1 as Green List (high evidence)",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:34:51.246041+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.250",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Green List (High Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:34:03.203927+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.140",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: LNPK was added\ngene: LNPK was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LNPK were set to PMID: 30032983, PMID:35599435, https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true\nPhenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090\nReview for gene: LNPK was set to GREEN\nAdded comment: Moderate to severe ID, majority of patients 10/15 have period of regression\r\nEpilepsy (myoclonic frequently)\r\nStructural brain anomalies 'ear of the lynx sign', callosal hypoplasia, mild brain including cerebellar atrophy.\r\nMicrocephaly, macrocephaly and normal head circumference described. \nSources: Literature",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:33:43.717665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: COL4A3BP.",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:33:12.757061+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R3F as ready",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:33:12.747836+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r3f has been classified as Green List (High Evidence).",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:33:08.609211+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R3F as Green List (high evidence)",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:33:08.581356+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r3f has been classified as Green List (High Evidence).",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:31:43.592645+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1910",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: PPP1R3F was added\ngene: PPP1R3F was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PPP1R3F were set to 37531237\nPhenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related\nReview for gene: PPP1R3F was set to GREEN\nAdded comment: 13 unrelated hemizygous individuals with a neurodevelopmental disorder were reported, with functional evidence.\r\n6/13 (46%) were reported with heterogeneous seizure types including generalized, nocturnal, tonic, atonic, focal, myoclonic, and atypical absence. \nSources: Literature",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:31:30.742291+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.140",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: DBR1 was added\ngene: DBR1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBR1 were set to 37656279\nPhenotypes for gene: DBR1 were set to Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life\nReview for gene: DBR1 was set to AMBER\ngene: DBR1 was marked as current diagnostic\nAdded comment: PMID: 37656279:\r\n-\tA homozygous missense as a founder recessive DBR1 variant in four consanguineous families.\r\n-\tConsistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.\r\n-\tRNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.\r\n-\tHaplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.\r\n-\tAuthors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency. \nSources: Literature",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:31:26.758743+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.4",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: DBR1 was added\ngene: DBR1 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBR1 were set to 37656279\nPhenotypes for gene: DBR1 were set to Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life\nReview for gene: DBR1 was set to AMBER\ngene: DBR1 was marked as current diagnostic\nAdded comment: PMID: 37656279:\r\n-\tA homozygous missense as a founder recessive DBR1 variant in four consanguineous families.\r\n-\tConsistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.\r\n-\tRNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.\r\n-\tHaplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.\r\n-\tAuthors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency. \nSources: Literature",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:30:39.808635+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5387",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: AXIN1 was added\ngene: AXIN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AXIN1 were set to PMID: 37582359\nPhenotypes for gene: AXIN1 were set to Syndromic disease, (MONDO:0002254), AXIN1-related\nReview for gene: AXIN1 was set to GREEN\nAdded comment: PMID: 37582359 \r\n- four families (7 individuals) with three homozygous truncating variants. \r\n- all variant shown to result in reduced protein, though 1/3 would be NMD predicted\r\n- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis \nSources: Literature",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:30:18.772004+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.128",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: AXIN1 was added\ngene: AXIN1 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AXIN1 were set to PMID: 37582359\nPhenotypes for gene: AXIN1 were set to Syndromic disease, (MONDO:0002254), AXIN1-related\nReview for gene: AXIN1 was set to GREEN\nAdded comment: PMID: 37582359 \r\n- four families (7 individuals) with three homozygous truncating variants. \r\n- all variant shown to result in reduced protein, though 1/3 would be NMD predicted\r\n- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis \nSources: Literature",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:29:36.734674+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.249",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: AXIN1 was added\ngene: AXIN1 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AXIN1 were set to PMID: 37582359\nPhenotypes for gene: AXIN1 were set to Syndromic disease, (MONDO:0002254), AXIN1-related\nReview for gene: AXIN1 was set to GREEN\nAdded comment: PMID: 37582359 \r\n- four families (7 individuals) with three homozygous truncating variants. \r\n- all variant shown to result in reduced protein, though 1/3 would be NMD predicted\r\n- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis \nSources: Literature",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:28:59.553847+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL3 as ready",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:28:59.536820+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul3 has been classified as Green List (High Evidence).",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:28:52.649587+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CUL3 as Green List (high evidence)",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:28:52.640289+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul3 has been classified as Green List (High Evidence).",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:28:16.523696+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LNPK as ready",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:28:16.505859+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lnpk has been classified as Green List (High Evidence).",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:28:05.192810+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LNPK were set to PMID: 35599435, 30032983",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:24:07.934530+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.533",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: LNPK was added\ngene: LNPK was added to Regression. Sources: Literature\nMode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LNPK were set to PMID: 35599435, https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true\nPhenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090\nReview for gene: LNPK was set to GREEN\nAdded comment: Moderate to severe ID, majority of patients 10/15 have period of regression \r\nEpilepsy (myoclonic frequently) \r\nStructural brain anomalies 'ear of the lynx sign', callosal hypoplasia, mild brain including cerebellar atrophy. \r\nMicrocephaly, macrocephaly and normal head circumference described. \nSources: Literature",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:23:56.402427+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.139",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: CUL3 was added\ngene: CUL3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL3 were set to 37665043\nPhenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures (MIM#619239); Pseudohypoaldosteronism, type IIE (MIM#614496)\nReview for gene: CUL3 was set to GREEN\nAdded comment: PMID: 37665043\r\n1 case study and a review of the literature. 5 patients with de novo variants (PTCs and missense) in CUL3 who have various cardiac phenotypes: atrial septal defects, left ventricular outflow tract obstruction. Hypertrophic right ventricle pulmonary atresia, and other congenital heart defects. 2 of these patients have a neurological phenotype as well, while the other three are not reported to have one (but at least one was a terminated pregnancy). \nSources: Literature",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:23:01.546141+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL3 as ready",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:23:01.525900+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul3 has been classified as Green List (High Evidence).",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:22:59.195572+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL3 were changed from Neurodevelopmental disorder with or without autism or seizures (MIM#619239); Pseudohypoaldosteronism, type IIE (MIM#614496) to Neurodevelopmental disorder with or without autism or seizures (MIM#619239)",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:22:24.667119+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CUL3 as Green List (high evidence)",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:22:24.655144+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul3 has been classified as Green List (High Evidence).",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:21:51.766947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1149",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "changed review comment from: Sources: Literature; to: 13 unrelated hemizygous individuals reported with functional evidence\r\nSources: Literature",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:20:46.144176+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R3F as ready",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:20:46.128492+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r3f has been classified as Green List (High Evidence).",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:20:16.022839+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R3F as Green List (high evidence)",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:20:16.011227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r3f has been classified as Green List (High Evidence).",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:19:46.934883+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1148",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: PPP1R3F was added\ngene: PPP1R3F was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PPP1R3F were set to 37531237\nPhenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related\nReview for gene: PPP1R3F was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:19:46.822053+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R3F as ready",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:19:46.811872+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r3f has been classified as Green List (High Evidence).",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:19:31.745992+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R3F as Green List (high evidence)",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:19:31.734463+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r3f has been classified as Green List (High Evidence).",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:19:18.917831+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.504",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LNPK",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:17:06.318149+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.292",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: CUL3 was added\ngene: CUL3 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL3 were set to 37665043\nPhenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures (MIM#619239); Pseudohypoaldosteronism, type IIE (MIM#614496)\nReview for gene: CUL3 was set to GREEN\nAdded comment: PMID: 37665043\r\n1 case study and a review of the literature. 5 patients with de novo variants (PTCs and missense) in CUL3 who have various cardiac phenotypes: atrial septal defects, left ventricular outflow tract obstruction. Hypertrophic right ventricle pulmonary atresia, and other congenital heart defects. 2 of these patients have a neurological phenotype as well, while the other three are not reported to have one (but at least one was a terminated pregnancy). \nSources: Literature",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:15:52.727286+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5385",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: PPP1R3F was added\ngene: PPP1R3F was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PPP1R3F were set to 37531237\nPhenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related\nReview for gene: PPP1R3F was set to GREEN\nAdded comment: 13 unrelated hemizygous individuals reported with functional evidence \nSources: Literature",
"entity_name": "PPP1R3F",
"entity_type": "gene"
},
{
"created": "2023-09-07T12:09:41.151823+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.260",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434005, 26399558, 26739247; Phenotypes: Waisman syndrome (MIM#311510), Intellectual developmental disorder, X-linked 72 (MIM#300271); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2023-09-05T11:39:57.932704+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LAMA3 as ready",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2023-09-05T11:39:57.922565+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lama3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2023-09-05T10:14:47.793344+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.164",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PTEN hamartoma tumour syndrome (MONDO#0017623); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2023-09-05T10:14:45.112012+10:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.10",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PTEN hamartoma tumour syndrome (MONDO#0017623); Mode of inheritance: None",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2023-09-05T09:32:44.806204+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: LAMA3 were set to 7633458; 8530087; 11810295; 10366601",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2023-09-05T09:32:30.963394+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LAMA3 as Amber List (moderate evidence)",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2023-09-05T09:32:30.954612+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.292",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lama3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2023-09-05T09:31:34.402856+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LAMA3 was added\ngene: LAMA3 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: LAMA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LAMA3 were set to 37635785\nPhenotypes for gene: LAMA3 were set to Ebstein anomaly MONDO:0009144\nReview for gene: LAMA3 was set to AMBER\nAdded comment: Single study with heterozygous nonsense variants identified in LAMA3 in two families with incomplete penetrance (a trio with one unaffected parent and a family with 2 affected and 1 unaffected carrier). p.Arg1126Ter has 5 hets in gnomAD v2.1 & p.Gln1507Ter has 4 hets in gnomAD v2.1. Variant filtering (including CNV detection algorithms) was conducted on WGS/WES from the trio and 2 affected individuals from the family. \r\nCardiac phenotypes in carriers of the junctional EB families harbouring LAMA3 pathogenic variants have not been reported. Lama3 +/- mice demonstrated abnormalities in the tricuspid valve and RV, similar to phenotypes observed in human Ebstein’s anomaly. Lama3 -/- mice were embryonic lethal. \nSources: Literature",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:51:24.281238+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FTH1 as ready",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:51:24.265984+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fth1 has been classified as Green List (High Evidence).",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:51:01.100875+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FTH1 as Green List (high evidence)",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:51:01.095611+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:51:01.056634+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fth1 has been classified as Green List (High Evidence).",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:50:45.278283+10:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FTH1 were set to 36778397",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:50:29.311875+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FTH1 were set to 36778397",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:50:01.033241+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FTH1 as Green List (high evidence)",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:50:01.025288+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:50:00.982597+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fth1 has been classified as Green List (High Evidence).",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:47:36.695132+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.533",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FTH1 were set to 36778397",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:44:25.496715+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.532",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FTH1 as Green List (high evidence)",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:44:25.490059+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.532",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-05T08:44:25.444096+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.532",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fth1 has been classified as Green List (High Evidence).",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-04T17:27:26.671374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FTH1 were set to 11389486; 36778397",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-04T17:26:54.648392+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: FTH1 was changed from None to Other",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-04T17:26:17.534715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FTH1 as Green List (high evidence)",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-04T17:26:17.529451+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-04T17:26:17.486503+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fth1 has been classified as Green List (High Evidence).",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:59:10.073288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1144",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C3 were changed from C3 deficiency MIM#613779 to C3 deficiency MIM#613779; C3 deficiency MIM#613779; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:58:47.357776+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1143",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C3 were set to 15781264; 1944729; 11813855; 26847111",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:58:45.219259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1143",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:58:09.341186+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1142",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C3: Changed phenotypes: C3 deficiency MIM#613779, {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:57:50.737827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1142",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C3: Added comment: Multiple individuals reported with mono-allelic variants and aHUS. At least one report of biallelic variants.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2023-09-04T15:29:21.601356+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATM as ready",
"entity_name": "ATM",
"entity_type": "gene"
}
]
}