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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=153",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=151",
"results": [
{
"created": "2025-10-09T13:41:15.863495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNE2 were changed from Emery-Dreifuss muscular dystrophy 5, autosomal dominant MIM#612999 to Emery-Dreifuss muscular dystrophy 5, autosomal dominant MIM#612999; Neurodevelopmental disorder, MONDO:0700092, SYNE2 related",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:40:57.314044+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNE2 were set to 32184094; 17761684; 40757551",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:40:40.903740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNE2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:40:38.217394+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.99",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KLK15 was added\ngene: KLK15 was added to Aortopathy_Connective Tissue Disorders. Sources: Other\nMode of inheritance for gene: KLK15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLK15 were set to 40949095\nPhenotypes for gene: KLK15 were set to hypermobile Ehlers-Danlos syndrome MONDO:0007523\nReview for gene: KLK15 was set to AMBER\nAdded comment: Two unrelated families with individuals affected with hEDS \r\nHeterozygous p.Gly226Asp was identified in both families and segregated with disease across other affected individuals and not presented in unaffected family members. \r\nNote: p.Gly226Asp - FAF 0.4970% in gnomAD v4.1\r\n\r\nCRISPR-Cas9-generated Klk15G224D/+ knock in mouse model showed a decrease in tendon elasicity, mitral valve prolapse, collagen fibril thinning which is supportive to show the mouse model recapitulated human phenotype.\r\n\r\nMore evidence is required to support gene-disease association given only one variant in two families and supportive mouse model have been reported. \nSources: Other",
"entity_name": "KLK15",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:40:11.909627+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNE2 as ready",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:40:11.902915+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne2 has been classified as Red List (Low Evidence).",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:39:41.990796+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3332",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: KLK15 was added\ngene: KLK15 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: KLK15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLK15 were set to 40949095\nPhenotypes for gene: KLK15 were set to hypermobile Ehlers-Danlos syndrome MONDO:0007523\nReview for gene: KLK15 was set to AMBER\nAdded comment: Two unrelated families with individuals affected with hEDS \r\nHeterozygous p.Gly226Asp was identified in both families and segregated with disease across other affected individuals and not presented in unaffected family members. \r\nNote: p.Gly226Asp - FAF 0.4970% in gnomAD v4.1\r\n\r\nCRISPR-Cas9-generated Klk15G224D/+ knock in mouse model showed a decrease in tendon elasicity, mitral valve prolapse, collagen fibril thinning which is supportive to show the mouse model recapitulated human phenotype.\r\n\r\nMore evidence is required to support gene-disease association given only one variant in two families and supportive mouse model have been reported. \nSources: Other",
"entity_name": "KLK15",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:39:05.996045+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTD2 as ready",
"entity_name": "CNTD2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:39:05.986124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntd2 has been classified as Green List (High Evidence).",
"entity_name": "CNTD2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:38:59.182112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNTD2 as Green List (high evidence)",
"entity_name": "CNTD2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:38:59.174341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntd2 has been classified as Green List (High Evidence).",
"entity_name": "CNTD2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:38:45.717641+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: CNTD2.",
"entity_name": "CNTD2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:38:32.110458+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTD2 as ready",
"entity_name": "CNTD2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:38:32.101375+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntd2 has been classified as Green List (High Evidence).",
"entity_name": "CNTD2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:38:27.417740+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNTD2 as Green List (high evidence)",
"entity_name": "CNTD2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:38:27.410340+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntd2 has been classified as Green List (High Evidence).",
"entity_name": "CNTD2",
"entity_type": "gene"
},
{
"created": "2025-10-09T13:38:06.760294+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: CNTD2.",
"entity_name": "CNTD2",
"entity_type": "gene"
},
{
"created": "2025-10-09T12:53:24.614990+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.228",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CLIC5 as Green List (high evidence)",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2025-10-09T12:53:24.607288+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.228",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: clic5 has been classified as Green List (High Evidence).",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2025-10-09T12:53:08.469031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3331",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CLIC5 as Green List (high evidence)",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2025-10-09T12:53:08.461253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3331",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: clic5 has been classified as Green List (High Evidence).",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2025-10-09T12:52:54.987744+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.227",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CLIC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 40957967, 40928595, 33114113; Phenotypes: Autosomal recessive nonsyndromic hearing loss 103, MONDO:0014469; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2025-10-09T12:52:51.159962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3330",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CLIC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 40957967, 40928595, 33114113; Phenotypes: Autosomal recessive nonsyndromic hearing loss 103, MONDO:0014469; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2025-10-09T12:29:52.276300+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.34",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CNTD2 was added\ngene: CNTD2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Other\nMode of inheritance for gene: CNTD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNTD2 were set to 41005306\nPhenotypes for gene: CNTD2 were set to Oocyte/zygote/embryo maturation arrest MONDO:0014769\nReview for gene: CNTD2 was set to GREEN\nAdded comment: HGNC approved new gene name: CCNP \r\n\r\n3 unrelated women presenting with primary infertility and oocyte/embryo defects in IVF.\r\nDifferent biallelic variants were identified - all variants were either absent or rare enough in gnomAD v4.1 for AR gene (p.L59Wfs*11, p.Y231N, and c.358-1G>A). \r\n\r\nIn vivo mouse model showed that the overexpression of mutant CNTD2 mRNA in mouse zygotes led to early embryonic arrest. \nSources: Other",
"entity_name": "CNTD2",
"entity_type": "gene"
},
{
"created": "2025-10-09T12:29:40.089206+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.227",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Melbourne Genomics Health Alliance Deafness Flagship was removed from CLIC5.\nSource Victorian Clinical Genetics Services was removed from CLIC5.\nSource Literature was added to CLIC5.\nPhenotypes for gene: CLIC5 were changed from Deafness, autosomal recessive 103, MIM# 616042 to Autosomal recessive nonsyndromic hearing loss 103, MONDO:0014469",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2025-10-09T12:29:20.426968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3330",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from CLIC5.\nSource Literature was added to CLIC5.\nPhenotypes for gene: CLIC5 were changed from Deafness, autosomal recessive 103, MIM# 616042 to Autosomal recessive nonsyndromic hearing loss 103, MONDO:0014469",
"entity_name": "CLIC5",
"entity_type": "gene"
},
{
"created": "2025-10-09T12:28:13.741888+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3329",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CNTD2 was added\ngene: CNTD2 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: CNTD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNTD2 were set to 41005306\nPhenotypes for gene: CNTD2 were set to Oocyte/zygote/embryo maturation arrest MONDO:0014769\nReview for gene: CNTD2 was set to GREEN\nAdded comment: HGNC approved new gene name: CCNP \r\n\r\n3 unrelated women presenting with primary infertility and oocyte/embryo defects in IVF.\r\nDifferent biallelic variants were identified - all variants were either absent or rare enough in gnomAD v4.1 for AR gene (p.L59Wfs*11, p.Y231N, and c.358-1G>A). \r\n\r\nIn vivo mouse model showed that the overexpression of mutant CNTD2 mRNA in mouse zygotes led to early embryonic arrest. \nSources: Other",
"entity_name": "CNTD2",
"entity_type": "gene"
},
{
"created": "2025-10-09T12:25:32.093374+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.342",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SYNE2 was added\ngene: SYNE2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SYNE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SYNE2 were set to 34573277\nPhenotypes for gene: SYNE2 were set to Neurodevelopmental disorder, MONDO:0700092, SYNE2 related\nReview for gene: SYNE2 was set to RED\nAdded comment: 1 individual with autism spectrum disorder, developmental delay and intellectual disability (from a cohort of 410 trios with neurodevelopmental disorders). Trio WES found compound heterozygous variants in SYNE2 [c.2483T>G; p.(Val828Gly) and c.2362G>A; p.(Glu788Lys)]. Both variants are rare, predicted to be highly damaging using in silico tools, and located in the nesprin-2 giant spectrin repeat domain. Both parents and the healthy brother were heterozygous. Expression and functional testing in patient lymphoblastoid cell lines showed a significant reduction of nesprin-2 giant protein levels, however SYNE2 transcription and the nuclear envelope localisation of the mutant proteins was unaffected as compared to parental control cells. \r\n\r\nSYNE 1-4 genes encode for nesprins (nuclear envelope spectrin repeat proteins) which play fundamental roles in nuclear architecture and positioning, directed cell migration, cellular signalling, ciliogenesis, and mechanobiology. \nSources: Literature",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2025-10-09T12:25:27.334627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3329",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SYNE2: Rating: RED; Mode of pathogenicity: None; Publications: 34573277; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SYNE2 related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:30:31.250339+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTS6 were changed from to Neurodevelopmental disorder, MONDO:0700092, INTS6-related",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:30:09.937858+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INTS6 were set to ",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:29:45.548448+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INTS6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:29:22.585130+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INTS6 as Green List (high evidence)",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:29:22.576675+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints6 has been classified as Green List (High Evidence).",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:28:59.932358+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INTS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 40966122; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, INTS6-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:24:23.950520+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTS6 were changed from to Neurodevelopmental disorder, MONDO:0700092, INTS6-related",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:24:06.583481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INTS6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:23:50.061336+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INTS6 as Green List (high evidence)",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:23:50.053674+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints6 has been classified as Green List (High Evidence).",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:23:28.123816+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTS6 as ready",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:23:28.114430+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints6 has been classified as Green List (High Evidence).",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:23:23.670984+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INTS6 as Green List (high evidence)",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:23:23.652359+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints6 has been classified as Green List (High Evidence).",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:22:10.993844+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC188 as ready",
"entity_name": "CCDC188",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:22:10.986112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc188 has been classified as Green List (High Evidence).",
"entity_name": "CCDC188",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:22:03.550250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC188 as Green List (high evidence)",
"entity_name": "CCDC188",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:22:03.540529+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc188 has been classified as Green List (High Evidence).",
"entity_name": "CCDC188",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:21:10.745623+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC188 as ready",
"entity_name": "CCDC188",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:21:10.735680+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc188 has been classified as Green List (High Evidence).",
"entity_name": "CCDC188",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:20:29.253762+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPDYC as ready",
"entity_name": "SPDYC",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:20:29.244178+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spdyc has been classified as Green List (High Evidence).",
"entity_name": "SPDYC",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:20:16.841758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPDYC as ready",
"entity_name": "SPDYC",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:20:16.832049+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spdyc has been classified as Green List (High Evidence).",
"entity_name": "SPDYC",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:19:18.275247+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDHA13 as ready",
"entity_name": "PCDHA13",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:19:18.265710+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdha13 has been classified as Red List (Low Evidence).",
"entity_name": "PCDHA13",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:18:51.147976+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDHA13 as ready",
"entity_name": "PCDHA13",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:18:51.138277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdha13 has been classified as Red List (Low Evidence).",
"entity_name": "PCDHA13",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:12:46.890822+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.465",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PCDHA13 was added\ngene: PCDHA13 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: PCDHA13 was set to Other\nPublications for gene: PCDHA13 were set to 40988636\nPhenotypes for gene: PCDHA13 were set to Hypoplastic left heart syndrome, MONDO:0004933\nReview for gene: PCDHA13 was set to RED\nAdded comment: WES in 68 subjects with HLHS identified 1 individual with co-occurrence (i.e. digenic) of a SAP130 gene variant (p. S639G) and PCDHA13 gene variant (p. A22V). GnomAD frequencies for variants are: 0.00003% (PCDHA13 variant) and 0.01% with numerous homozygotes (SAP130 variant). The PCDHA13 variant is situated in a region highly conserved across the PCDHA gene family (which is highly homologous), especially PCDHA10 which is the ortholog of mouse Pcdha9. \r\n\r\nMouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, and Pcdha9 increases penetrance of aortic valve abnormalities. Mutations in Sap130 and Pcdha9 were validated by CRISPR–Cas9 genome editing in mice as being digenic causes of HLHS. \nSources: Literature",
"entity_name": "PCDHA13",
"entity_type": "gene"
},
{
"created": "2025-10-09T11:12:38.171230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3325",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PCDHA13 was added\ngene: PCDHA13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PCDHA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PCDHA13 were set to 40988636\nPhenotypes for gene: PCDHA13 were set to Hypoplastic left heart syndrome, MONDO:0004933\nReview for gene: PCDHA13 was set to RED\nAdded comment: WES in 68 subjects with HLHS identified 1 individual with co-occurrence (i.e. digenic) of a SAP130 gene variant (p. S639G) and PCDHA13 gene variant (p. A22V). GnomAD frequencies for variants are: 0.00003% (PCDHA13 variant) and 0.01% with numerous homozygotes (SAP130 variant). The PCDHA13 variant is situated in a region highly conserved across the PCDHA gene family (which is highly homologous), especially PCDHA10 which is the ortholog of mouse Pcdha9. \r\n\r\nMouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, and Pcdha9 increases penetrance of aortic valve abnormalities. Mutations in Sap130 and Pcdha9 were validated by CRISPR–Cas9 genome editing in mice as being digenic causes of HLHS. \nSources: Literature",
"entity_name": "PCDHA13",
"entity_type": "gene"
},
{
"created": "2025-10-09T10:14:00.493511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3324",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SPDYC as Green List (high evidence)",
"entity_name": "SPDYC",
"entity_type": "gene"
},
{
"created": "2025-10-09T10:14:00.483380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3324",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: spdyc has been classified as Green List (High Evidence).",
"entity_name": "SPDYC",
"entity_type": "gene"
},
{
"created": "2025-10-09T10:13:50.183805+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.361",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SPDYC as Green List (high evidence)",
"entity_name": "SPDYC",
"entity_type": "gene"
},
{
"created": "2025-10-09T10:13:50.173678+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.361",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: spdyc has been classified as Green List (High Evidence).",
"entity_name": "SPDYC",
"entity_type": "gene"
},
{
"created": "2025-10-09T10:13:45.034308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3323",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SPDYC was added\ngene: SPDYC was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPDYC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPDYC were set to 41005306\nPhenotypes for gene: SPDYC were set to Primary ovarian failure, MONDO:0005387\nReview for gene: SPDYC was set to GREEN\nAdded comment: 4 unrelated female patients with primary infertility caused by oocyte/embryo defects, from a large cohort of 3,627 patients. WES identified rare biallelic variants in SPDYC gene (p.R52Vfs∗50, p.R188C, p.P287H). Overexpression of mutant SPDYC mRNA in mouse oocytes caused disruption of the ability of the protein to overcome milrinone-mediated inhibition of meiotic resumption with two of the variants (p.R52Vfs∗50 and p.R188C). SPDYC is involved in crucial processes involving cyclin-dependent kinases during the phase transition of the mitotic cell cycle. \nSources: Literature",
"entity_name": "SPDYC",
"entity_type": "gene"
},
{
"created": "2025-10-09T10:13:44.493969+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.360",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SPDYC was added\ngene: SPDYC was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: SPDYC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPDYC were set to 41005306\nPhenotypes for gene: SPDYC were set to Primary ovarian failure, MONDO:0005387\nReview for gene: SPDYC was set to GREEN\nAdded comment: 4 unrelated female patients with primary infertility caused by oocyte/embryo defects, from a large cohort of 3,627 patients. WES identified rare biallelic variants in SPDYC gene (p.R52Vfs∗50, p.R188C, p.P287H). Overexpression of mutant SPDYC mRNA in mouse oocytes caused disruption of the ability of the protein to overcome milrinone-mediated inhibition of meiotic resumption with two of the variants (p.R52Vfs∗50 and p.R188C). SPDYC is involved in crucial processes involving cyclin-dependent kinases during the phase transition of the mitotic cell cycle. \nSources: Literature",
"entity_name": "SPDYC",
"entity_type": "gene"
},
{
"created": "2025-10-09T09:42:06.589573+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.34",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CCDC188 as Green List (high evidence)",
"entity_name": "CCDC188",
"entity_type": "gene"
},
{
"created": "2025-10-09T09:42:06.579353+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.34",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ccdc188 has been classified as Green List (High Evidence).",
"entity_name": "CCDC188",
"entity_type": "gene"
},
{
"created": "2025-10-09T09:42:02.646817+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3322",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CCDC188 was added\ngene: CCDC188 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC188 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC188 were set to 41004021\nPhenotypes for gene: CCDC188 were set to Male infertility due to acephalic spermatozoa, MONDO:0035153\nReview for gene: CCDC188 was set to GREEN\nAdded comment: 2 patients from 2 unrelated families with acephalic spermatozoa syndrome. WES identified biallelic variants in CCDC188 gene (1 x homozygous, 1 x compound heterozygous). The variants (c.481C > T [p.Gln161*] and c.1022 + 1G > A [p. K325Afs*110]) were rare in gnomAD and segregated in the family with heterozygous carrier parents. Western blotting, RT-PCR, qPCR, and immunofluorescence showed depletion of CCDC188 protein (and SUN5 and PMFBP1 protein) in patient sperm. Mutations in SUN5 and PMFBP1 genes account for 75% patients with acephalic spermatozoa syndrome. \nSources: Literature",
"entity_name": "CCDC188",
"entity_type": "gene"
},
{
"created": "2025-10-09T09:42:01.236617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3322",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CCDC188 was added\ngene: CCDC188 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC188 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC188 were set to 41004021\nPhenotypes for gene: CCDC188 were set to Male infertility due to acephalic spermatozoa, MONDO:0035153\nReview for gene: CCDC188 was set to GREEN\nAdded comment: 2 patients from 2 unrelated families with acephalic spermatozoa syndrome. WES identified biallelic variants in CCDC188 gene (1 x homozygous, 1 x compound heterozygous). The variants (c.481C > T [p.Gln161*] and c.1022 + 1G > A [p. K325Afs*110]) were rare in gnomAD and segregated in the family with heterozygous carrier parents. Western blotting, RT-PCR, qPCR, and immunofluorescence showed depletion of CCDC188 protein (and SUN5 and PMFBP1 protein) in patient sperm. Mutations in SUN5 and PMFBP1 genes account for 75% patients with acephalic spermatozoa syndrome. \nSources: Literature",
"entity_name": "CCDC188",
"entity_type": "gene"
},
{
"created": "2025-10-09T09:41:59.575750+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.33",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CCDC188 was added\ngene: CCDC188 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CCDC188 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC188 were set to 41004021\nPhenotypes for gene: CCDC188 were set to Male infertility due to acephalic spermatozoa, MONDO:0035153\nReview for gene: CCDC188 was set to GREEN\nAdded comment: 2 patients from 2 unrelated families with acephalic spermatozoa syndrome. WES identified biallelic variants in CCDC188 gene (1 x homozygous, 1 x compound heterozygous). The variants (c.481C > T [p.Gln161*] and c.1022 + 1G > A [p. K325Afs*110]) were rare in gnomAD and segregated in the family with heterozygous carrier parents. Western blotting, RT-PCR, qPCR, and immunofluorescence showed depletion of CCDC188 protein (and SUN5 and PMFBP1 protein) in patient sperm. Mutations in SUN5 and PMFBP1 genes account for 75% patients with acephalic spermatozoa syndrome. \nSources: Literature",
"entity_name": "CCDC188",
"entity_type": "gene"
},
{
"created": "2025-10-09T08:36:41.219235+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.340",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: INTS6 encodes a member of the integrator complex which plays a role in RNA polymerase II transcription termination and small nuclear RNA processing.\r\n\r\nPMID: 40966122 describes 24 affected individuals from 23 families with a variable neurodevelopmental disorder. Variant types included monoallelic missense, nonsense, frameshift and splice site.\r\nPhenotypes included autism, variable language and motor delay, variable ID/developmental delay, sleep disturbances and epilepsy in a small subset.\r\n\r\n21 variants were confirmed to be de novo.\r\nAll variants either absent in gnomad v4 or had 1 heterozygote only.\r\npLI for INTS6 is 1 and few overall LOF variants in gnomAD v4 in gene.\r\n\r\nSupportive functional studies including biallelic knockout mice demonstrating abnormal brain morphology. Heterozygous knockout mice assessed to have abnormal behaviour and reduced learning efficiency and memory retention. Some variant specific studies performed consistent with loss of function mechanism. \nSources: Literature; to: INTS6 encodes a member of the integrator complex which plays a role in RNA polymerase II transcription termination and small nuclear RNA processing.\r\n\r\nPMID: 40966122 describes 24 affected individuals from 23 families with a neurodevelopmental disorder. Variant types included monoallelic missense, nonsense, frameshift and splice site.\r\nPhenotypes included autism, variable language and motor delay, variable ID/developmental delay, sleep disturbances and epilepsy in a small subset.\r\n\r\n21 variants were confirmed to be de novo.\r\nAll variants either absent in gnomad v4 or had 1 heterozygote only.\r\npLI for INTS6 is 1 and few overall LOF variants in gnomAD v4 in gene.\r\n\r\nSupportive functional studies including biallelic knockout mice demonstrating abnormal brain morphology. Heterozygous knockout mice assessed to have abnormal behaviour and reduced learning efficiency and memory retention. Some variant specific studies performed consistent with loss of function mechanism. \r\nSources: Literature",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-09T08:36:08.002389+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3321",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: INTS6 encodes a member of the integrator complex which plays a role in RNA polymerase II transcription termination and small nuclear RNA processing.\r\n\r\nPMID: 40966122 describes 24 affected individuals from 23 families with a variable neurodevelopmental disorder. Variant types included monoallelic missense, nonsense, frameshift and splice site.\r\nPhenotypes included autism, variable language and motor delay, variable ID/developmental delay, sleep disturbances and epilepsy in a small subset. \r\n\r\n21 variants were confirmed to be de novo.\r\nAll variants either absent in gnomad v4 or had 1 heterozygote only. \r\npLI for INTS6 is 1 and few overall LOF variants in gnomAD v4 in gene. \r\n\r\nSupportive functional studies including biallelic knockout mice demonstrating abnormal brain morphology. Heterozygous knockout mice assessed to have abnormal behaviour and reduced learning efficiency and memory retention. Some variant specific studies performed consistent with loss of function mechanism.; to: INTS6 encodes a member of the integrator complex which plays a role in RNA polymerase II transcription termination and small nuclear RNA processing.\r\n\r\nPMID: 40966122 describes 24 affected individuals from 23 families with a neurodevelopmental disorder. Variant types included monoallelic missense, nonsense, frameshift and splice site.\r\nPhenotypes included autism, variable language and motor delay, variable ID/developmental delay, sleep disturbances and epilepsy in a small subset. \r\n\r\n21 variants were confirmed to be de novo.\r\nAll variants either absent in gnomad v4 or had 1 heterozygote only. \r\npLI for INTS6 is 1 and few overall LOF variants in gnomAD v4 in gene. \r\n\r\nSupportive functional studies including biallelic knockout mice demonstrating abnormal brain morphology. Heterozygous knockout mice assessed to have abnormal behaviour and reduced learning efficiency and memory retention. Some variant specific studies performed consistent with loss of function mechanism.",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-08T17:30:48.323537+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OAS2 as ready",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2025-10-08T17:30:48.313386+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas2 has been classified as Green List (High Evidence).",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2025-10-08T17:30:44.728486+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OAS2 as Green List (high evidence)",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2025-10-08T17:30:44.718893+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oas2 has been classified as Green List (High Evidence).",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2025-10-08T17:30:25.498483+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OAS2 was added\ngene: OAS2 was added to Autoinflammatory Disorders. Sources: Expert Review\nMode of inheritance for gene: OAS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OAS2 were set to 36538032\nPhenotypes for gene: OAS2 were set to Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related\nReview for gene: OAS2 was set to GREEN\nAdded comment: 3x unrelated patients with MIS-C after COVID infection. Patients displayed excessive inflammatory responses to intracellular dsRNA, SARS-CoV-2, SARS-CoV-2–infected cells, and their RNA, providing a plausible mechanism for MIS-C. Similar presentation to OAS1 and RNASEL. Functional data. \nSources: Expert Review",
"entity_name": "OAS2",
"entity_type": "gene"
},
{
"created": "2025-10-08T17:13:33.703522+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.340",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: INTS6 was added\ngene: INTS6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: INTS6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: INTS6 were set to PMID: 40966122\nPhenotypes for gene: INTS6 were set to Neurodevelopmental disorder, MONDO:0700092, INTS6-related\nReview for gene: INTS6 was set to GREEN\nAdded comment: INTS6 encodes a member of the integrator complex which plays a role in RNA polymerase II transcription termination and small nuclear RNA processing.\r\n\r\nPMID: 40966122 describes 24 affected individuals from 23 families with a variable neurodevelopmental disorder. Variant types included monoallelic missense, nonsense, frameshift and splice site.\r\nPhenotypes included autism, variable language and motor delay, variable ID/developmental delay, sleep disturbances and epilepsy in a small subset.\r\n\r\n21 variants were confirmed to be de novo.\r\nAll variants either absent in gnomad v4 or had 1 heterozygote only.\r\npLI for INTS6 is 1 and few overall LOF variants in gnomAD v4 in gene.\r\n\r\nSupportive functional studies including biallelic knockout mice demonstrating abnormal brain morphology. Heterozygous knockout mice assessed to have abnormal behaviour and reduced learning efficiency and memory retention. Some variant specific studies performed consistent with loss of function mechanism. \nSources: Literature",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-08T17:12:41.929153+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3321",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: INTS6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40966122; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, INTS6-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "INTS6",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:59:41.721837+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLCN as ready",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:59:41.713527+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flcn has been classified as Green List (High Evidence).",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:59:23.997432+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLCN as Green List (high evidence)",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:59:23.986961+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flcn has been classified as Green List (High Evidence).",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:58:55.999411+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLCN was added\ngene: FLCN was added to Renal Macrocystic Disease. Sources: Expert Review\nMode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome, MIM#\t135150\nReview for gene: FLCN was set to GREEN\nAdded comment: Renal cysts are part of the phenotype. \nSources: Expert Review",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:52:55.783640+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNM1L as ready",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:52:55.776233+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm1l has been classified as Green List (High Evidence).",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:52:51.026529+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNM1L as Green List (high evidence)",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:52:51.014545+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm1l has been classified as Green List (High Evidence).",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:52:40.993949+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNM1L was added\ngene: DNM1L was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: DNM1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388\nReview for gene: DNM1L was set to GREEN\nAdded comment: Cardiomyopathy is a reported feature of this metabolic disorder. \nSources: Literature",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:32:09.593267+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP7A was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:31:55.828093+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:23:30.278264+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VHL as ready",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:23:30.267402+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vhl has been classified as Green List (High Evidence).",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:23:24.488669+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VHL were changed from to von Hippel-Lindau syndrome , MIM#193300",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:22:57.696278+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VHL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:22:10.355413+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBQLN2 as ready",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:22:10.348332+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubqln2 has been classified as Green List (High Evidence).",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:22:08.166623+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBQLN2 were changed from to Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MONDO: 0010459; MIM#300857)",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:21:46.947706+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBQLN2 were set to ",
"entity_name": "UBQLN2",
"entity_type": "gene"
},
{
"created": "2025-10-08T16:21:25.896557+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBQLN2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBQLN2",
"entity_type": "gene"
}
]
}