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{
"count": 220459,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=73",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=71",
"results": [
{
"created": "2025-12-30T16:08:47.641820+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TRMT1L from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T16:08:47.467795+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMT1L was added\ngene: TRMT1L was added to Arthrogryposis. Sources: Expert Review Red,Literature\nMode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRMT1L were set to 39786990\nPhenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related",
"entity_name": "TRMT1L",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:07:27.183793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMT1L as ready",
"entity_name": "TRMT1L",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:07:27.176099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmt1l has been classified as Red List (Low Evidence).",
"entity_name": "TRMT1L",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:07:19.625155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMT1L was added\ngene: TRMT1L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRMT1L were set to 39786990\nPhenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related\nReview for gene: TRMT1L was set to RED\nAdded comment: PMID 39786990 reports 2 individuals from a single family with an autosomal recessive homozygous missense variant c.1535C>T (p.Pro512Leu) presenting with early‑onset neurodegenerative syndrome (distal motor neuropathy, leukodystrophy, intellectual disability, hypotonia, contractures). Functional assays in patient fibroblasts show reduced acp3U tRNA modification that is rescued by wild‑type TRMT1L expression. \nSources: Literature",
"entity_name": "TRMT1L",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:06:17.983686+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SORCS2 as ready",
"entity_name": "SORCS2",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:06:17.973459+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sorcs2 has been classified as Red List (Low Evidence).",
"entity_name": "SORCS2",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:05:06.884558+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.323",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SORCS2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T16:05:05.696152+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SORCS2 was added\ngene: SORCS2 was added to Genetic Epilepsy. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SORCS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SORCS2 were set to 39810752\nPhenotypes for gene: SORCS2 were set to Neurodevelopmental disorder, MONDO:0700092, SORCS2-related",
"entity_name": "SORCS2",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:04:04.180649+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SORCS2 as ready",
"entity_name": "SORCS2",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:04:04.172493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sorcs2 has been classified as Red List (Low Evidence).",
"entity_name": "SORCS2",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:03:54.015493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SORCS2 was added\ngene: SORCS2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SORCS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SORCS2 were set to 39810752\nPhenotypes for gene: SORCS2 were set to Neurodevelopmental disorder, MONDO:0700092, SORCS2-related\nReview for gene: SORCS2 was set to RED\nAdded comment: PMID 39810752 reports one individual with a de novo heterozygous missense SORCS2 variant (c.2614C>T, p.Pro872Ser) presenting with neonatal encephalopathy and refractory seizures. Cell‑based assays demonstrate disrupted SorCS2 dimerization and mislocalization, supporting a loss‑of‑function mechanism. Variant is absent from gnomAD. \nSources: Literature",
"entity_name": "SORCS2",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:02:11.952652+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCP4 as ready",
"entity_name": "PCP4",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:02:11.943978+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcp4 has been classified as Red List (Low Evidence).",
"entity_name": "PCP4",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:01:33.034136+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU6-9 as ready",
"entity_name": "RNU6-9",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:01:33.024041+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6-9 has been classified as Green List (High Evidence).",
"entity_name": "RNU6-9",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:01:20.748930+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene RNU6-9 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T16:01:20.616512+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU6-9 was added\ngene: RNU6-9 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RNU6-9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RNU6-9 were set to 39830270\nPhenotypes for gene: RNU6-9 were set to retinitis pigmentosa MONDO:0019200, RNU6-9-related",
"entity_name": "RNU6-9",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:01:06.076617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU6-9 as ready",
"entity_name": "RNU6-9",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:01:06.069691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6-9 has been classified as Green List (High Evidence).",
"entity_name": "RNU6-9",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:01:01.285722+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU6-8 as ready",
"entity_name": "RNU6-8",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:01:01.277283+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6-8 has been classified as Green List (High Evidence).",
"entity_name": "RNU6-8",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:00:55.603761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU6-9 as Green List (high evidence)",
"entity_name": "RNU6-9",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:00:55.594000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6-9 has been classified as Green List (High Evidence).",
"entity_name": "RNU6-9",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:00:42.416656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU6-9 was added\ngene: RNU6-9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNU6-9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RNU6-9 were set to 39830270\nPhenotypes for gene: RNU6-9 were set to retinitis pigmentosa MONDO:0019200, RNU6-9-related\nReview for gene: RNU6-9 was set to GREEN\nAdded comment: PMID 39830270 reports 99 individuals with autosomal dominant retinitis pigmentosa, adolescent onset, progressive visual field loss, caused by de novo and inherited insertion variants n.55_56insG and n.56_57insG in RNU6-9. The variants act via a dominant‑negative mechanism and co‑immunoprecipitation in HeLa cells shows increased binding to SART3 and PRPF31. Note multiple RNU6 paralogues. \nSources: Literature",
"entity_name": "RNU6-9",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:59:41.786163+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene RNU6-8 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T15:59:41.634653+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU6-8 was added\ngene: RNU6-8 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RNU6-8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RNU6-8 were set to 39830270\nPhenotypes for gene: RNU6-8 were set to Retinitis pigmentosa MONDO:0019200, RNU6-8-related",
"entity_name": "RNU6-8",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:59:26.513521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU6-8 as ready",
"entity_name": "RNU6-8",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:59:26.506515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6-8 has been classified as Green List (High Evidence).",
"entity_name": "RNU6-8",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:59:18.004388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU6-8 as Green List (high evidence)",
"entity_name": "RNU6-8",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:59:17.997656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6-8 has been classified as Green List (High Evidence).",
"entity_name": "RNU6-8",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:59:06.182109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU6-8 was added\ngene: RNU6-8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNU6-8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RNU6-8 were set to 39830270\nPhenotypes for gene: RNU6-8 were set to Retinitis pigmentosa MONDO:0019200, RNU6-8-related\nReview for gene: RNU6-8 was set to GREEN\nAdded comment: PMID 39830270 reports multiple individuals with a dominant insertion variant (n.55_56insG) in RNU6-8 presenting with autosomal dominant retinitis pigmentosa, adolescent onset and progressive peripheral vision loss. Co‑IP assays demonstrate increased binding of mutant U6 snRNA to SART3 and PRPF31, supporting a dominant‑negative mechanism; both de novo and inherited cases are described. Note multiple RNU6 paralogues. \nSources: Literature",
"entity_name": "RNU6-8",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:57:53.497005+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU6-2 as ready",
"entity_name": "RNU6-2",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:57:53.487058+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6-2 has been classified as Green List (High Evidence).",
"entity_name": "RNU6-2",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:57:40.641549+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene RNU6-2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T15:57:40.512677+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU6-2 was added\ngene: RNU6-2 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RNU6-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RNU6-2 were set to 39830270\nPhenotypes for gene: RNU6-2 were set to Retinitis pigmentosa MONDO:0019200, RNU6-2-related",
"entity_name": "RNU6-2",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:57:26.894562+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU6-2 as ready",
"entity_name": "RNU6-2",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:57:26.887117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6-2 has been classified as Green List (High Evidence).",
"entity_name": "RNU6-2",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:57:19.405184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU6-2 as Green List (high evidence)",
"entity_name": "RNU6-2",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:57:19.394993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6-2 has been classified as Green List (High Evidence).",
"entity_name": "RNU6-2",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:56:50.391095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU6-2 was added\ngene: RNU6-2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNU6-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RNU6-2 were set to 39830270\nPhenotypes for gene: RNU6-2 were set to Retinitis pigmentosa MONDO:0019200, RNU6-2-related\nReview for gene: RNU6-2 was set to GREEN\nAdded comment: PMID 39830270 reports 99 individuals with autosomal dominant retinitis pigmentosa, adolescent onset and progressive peripheral vision loss. Insertion variants n.55_56insG and n.56_57insG in the U6 snRNA were identified, with de novo events in several cases and inherited segregation in others. Co‑IP assays demonstrate increased binding of mutant U6 to di‑snRNP proteins, indicating a dominant‑negative gain‑of‑function effect on spliceosomal assembly. \nSources: Literature",
"entity_name": "RNU6-2",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:53:25.510336+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU6-1 as ready",
"entity_name": "RNU6-1",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:53:25.503251+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU6-1",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:53:17.461838+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene RNU6-1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T15:53:17.309588+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU6-1 was added\ngene: RNU6-1 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RNU6-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RNU6-1 were set to 39830270\nPhenotypes for gene: RNU6-1 were set to retinitis pigmentosa MONDO:0019200, RNU6-1-related",
"entity_name": "RNU6-1",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:53:01.895970+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU6-1 as ready",
"entity_name": "RNU6-1",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:53:01.888342+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU6-1",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:52:55.333188+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU6-1 as Green List (high evidence)",
"entity_name": "RNU6-1",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:52:55.325165+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6-1 has been classified as Green List (High Evidence).",
"entity_name": "RNU6-1",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:52:39.958637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU6-1 was added\ngene: RNU6-1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNU6-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RNU6-1 were set to 39830270\nPhenotypes for gene: RNU6-1 were set to retinitis pigmentosa MONDO:0019200, RNU6-1-related\nReview for gene: RNU6-1 was set to GREEN\nAdded comment: RNU6-1 encodes the U6 small nuclear RNA, a core spliceosomal component involved in pre-mRNA splicing. PMID 39830270 reports 99 individuals with autosomal dominant adolescent-onset progressive retinitis pigmentosa caused by heterozygous insertion variants (n.55_56insG and n.56_57insG). The disease follows a dominant inheritance pattern with de novo events confirmed in seven individuals, and functional assays demonstrate a dominant‑negative effect via increased binding of mutant U6 snRNA to SART3 and PRPF31.\r\n\r\nPreprint. \nSources: Literature",
"entity_name": "RNU6-1",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:47:04.925147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM58A as ready",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:47:04.920746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name is CCNQ",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:47:04.894584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam58a has been classified as Green List (High Evidence).",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:46:42.649286+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: FAM58A.",
"entity_name": "FAM58A",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:45:40.653277+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene PCP4 from panel Incidentalome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T15:45:40.404788+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCP4 was added\ngene: PCP4 was added to Motor Neurone Disease. Sources: Expert Review Red,Literature\nMode of inheritance for gene: PCP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PCP4 were set to 39852553\nPhenotypes for gene: PCP4 were set to Familial amyotrophic lateral sclerosis, MONDO:0005144, PCP4-related",
"entity_name": "PCP4",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:44:27.992305+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCP4 as ready",
"entity_name": "PCP4",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:44:27.981816+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcp4 has been classified as Red List (Low Evidence).",
"entity_name": "PCP4",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:44:04.045999+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCP4 was added\ngene: PCP4 was added to Incidentalome. Sources: Literature\nMode of inheritance for gene: PCP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PCP4 were set to 39852553\nPhenotypes for gene: PCP4 were set to Familial amyotrophic lateral sclerosis, MONDO:0005144, PCP4-related\nReview for gene: PCP4 was set to RED\nAdded comment: PMID 39852553 reports 4 individuals from a large ALS cohort with a heterozygous intronic loss‑of‑function variant. The variant creates a cryptic exon and premature termination codon; functional assays (minigene splicing, splicing‑motif analysis, neuronal knockdown and rescue) support a loss‑of‑function (haploinsufficiency) mechanism. Detailed clinical phenotyping and segregation data are limited. \nSources: Literature",
"entity_name": "PCP4",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:39:14.881008+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTP as ready",
"entity_name": "OTP",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:39:14.870310+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otp has been classified as Amber List (Moderate Evidence).",
"entity_name": "OTP",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:38:59.722701+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene OTP from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T15:38:59.646212+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTP was added\ngene: OTP was added to Severe early-onset obesity. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: OTP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: OTP were set to 39813316; 29107289\nPhenotypes for gene: OTP were set to Obesity disorder, MONDO:0011122, OTP-related",
"entity_name": "OTP",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:38:46.328371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTP as ready",
"entity_name": "OTP",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:38:46.320219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otp has been classified as Amber List (Moderate Evidence).",
"entity_name": "OTP",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:38:39.503436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTP as Amber List (moderate evidence)",
"entity_name": "OTP",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:38:39.492864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otp has been classified as Amber List (Moderate Evidence).",
"entity_name": "OTP",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:38:25.487851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTP was added\ngene: OTP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OTP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: OTP were set to 39813316; 29107289\nPhenotypes for gene: OTP were set to Obesity disorder, MONDO:0011122, OTP-related\nReview for gene: OTP was set to AMBER\nAdded comment: PMID 29107289 reports a single individual with a heterozygous missense OTP variant (p.Q153R) presenting with severe early‑onset obesity and attention‑deficit disorder. PMID 39813316 adds five unrelated individuals carrying predicted loss‑of‑function OTP variants and confirms the Q153R case, together implicating heterozygous loss‑of‑function OTP as a cause of early‑onset severe obesity with metabolic comorbidities (type 2 diabetes, dyslipidemia, hepatic steatosis). However, individuals are ascertained from UK Biobank, hence clinical details are sparse. Mouse models with OTP haploinsufficiency or a Q153R knock‑in recapitulate hyperphagia and obesity, providing functional support. \nSources: Literature",
"entity_name": "OTP",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:34:25.738729+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NKAPL from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T15:34:25.685691+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKAPL was added\ngene: NKAPL was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NKAPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NKAPL were set to 39824811\nPhenotypes for gene: NKAPL were set to Spermatogenic failure, MONDO:0004983, NKAPL-related",
"entity_name": "NKAPL",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:34:13.980865+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKAPL as ready",
"entity_name": "NKAPL",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:34:13.973607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkapl has been classified as Amber List (Moderate Evidence).",
"entity_name": "NKAPL",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:34:06.800848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NKAPL as Amber List (moderate evidence)",
"entity_name": "NKAPL",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:34:06.790896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkapl has been classified as Amber List (Moderate Evidence).",
"entity_name": "NKAPL",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:33:48.566224+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKAPL was added\ngene: NKAPL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NKAPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NKAPL were set to 39824811\nPhenotypes for gene: NKAPL were set to Spermatogenic failure, MONDO:0004983, NKAPL-related\nReview for gene: NKAPL was set to AMBER\nAdded comment: PMID 39824811 reports four unrelated Han Chinese men with heterozygous NKAPL variants (c.844G>A, c.896C>G, c.1040G>A and c.1046_1047delTG) presenting with non‑obstructive azoospermia. Supportive mouse model. However, note 3 of the 4 variants are present at relatively high frequencies in gnomAD. \nSources: Literature",
"entity_name": "NKAPL",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:27:31.380015+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDRD6 as ready",
"entity_name": "TDRD6",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:27:31.372813+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdrd6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TDRD6",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:26:32.165336+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPAG9 as ready",
"entity_name": "SPAG9",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:26:32.150470+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spag9 has been classified as Red List (Low Evidence).",
"entity_name": "SPAG9",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:26:24.149663+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPAG9 as ready",
"entity_name": "SPAG9",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:26:24.139878+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spag9 has been classified as Red List (Low Evidence).",
"entity_name": "SPAG9",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:26:13.192063+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TDRD6 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T15:26:13.116805+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TDRD6 was added\ngene: TDRD6 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: TDRD6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDRD6 were set to 39764564; 39331689\nPhenotypes for gene: TDRD6 were set to Infertility disorder, MONDO:0005047, TDRD6-related",
"entity_name": "TDRD6",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:26:01.986011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDRD6 as ready",
"entity_name": "TDRD6",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:26:01.971116+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdrd6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TDRD6",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:25:49.302161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TDRD6 as Amber List (moderate evidence)",
"entity_name": "TDRD6",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:25:49.292071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdrd6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TDRD6",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:25:32.800443+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TDRD6 was added\ngene: TDRD6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TDRD6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDRD6 were set to 39764564; 39331689\nPhenotypes for gene: TDRD6 were set to Infertility disorder, MONDO:0005047, TDRD6-related\nReview for gene: TDRD6 was set to AMBER\nAdded comment: PMID 39331689 reports one family and PMID 39764564 reports two families, together three unrelated families with biallelic variants in TDRD6 causing severe oligo‑astheno‑teratozoospermia (OAT) and early embryonic arrest after ICSI. Supportive animal model. Note missense variant is relatively common on gnomAD. \nSources: Literature",
"entity_name": "TDRD6",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:23:31.462089+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.530",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SPAG9 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T15:23:31.139398+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPAG9 was added\ngene: SPAG9 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SPAG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPAG9 were set to 39846792\nPhenotypes for gene: SPAG9 were set to Neurodevelopmental disorder, MONDO:0700092, SPAG9-related",
"entity_name": "SPAG9",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:22:48.517048+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SPAG9 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T15:22:48.375223+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPAG9 was added\ngene: SPAG9 was added to Cataract. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SPAG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPAG9 were set to 39846792\nPhenotypes for gene: SPAG9 were set to Neurodevelopmental disorder, MONDO:0700092, SPAG9-related",
"entity_name": "SPAG9",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:22:21.543845+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PBXIP1 as ready",
"entity_name": "PBXIP1",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:22:21.535488+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pbxip1 has been classified as Red List (Low Evidence).",
"entity_name": "PBXIP1",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:21:54.679698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPAG9 as ready",
"entity_name": "SPAG9",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:21:54.667199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spag9 has been classified as Red List (Low Evidence).",
"entity_name": "SPAG9",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:21:45.974029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPAG9 was added\ngene: SPAG9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPAG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPAG9 were set to 39846792\nPhenotypes for gene: SPAG9 were set to Neurodevelopmental disorder, MONDO:0700092, SPAG9-related\nReview for gene: SPAG9 was set to RED\nAdded comment: PMID 39846792 reports 2 individuals from 2 families with the same biallelic loss-of-function frameshift variant in SPAG9 presenting with coarse facial features, albinism, cataract, skeletal abnormalities and severe developmental delay. Limited functional data, possible founder variant. \nSources: Literature",
"entity_name": "SPAG9",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:19:11.659859+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.311",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene PBXIP1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T15:19:11.505897+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PBXIP1 was added\ngene: PBXIP1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: PBXIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PBXIP1 were set to 39786576; 38947059\nPhenotypes for gene: PBXIP1 were set to non-syndromic genetic hearing loss, MONDO:0019497, PBXIP1-related",
"entity_name": "PBXIP1",
"entity_type": "gene"
},
{
"created": "2025-12-30T15:17:46.256421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PBXIP1 as ready",
"entity_name": "PBXIP1",
"entity_type": "gene"
}
]
}