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{
"count": 220459,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=72",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=70",
"results": [
{
"created": "2025-12-31T12:56:21.978765+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SPATA16 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-31T12:56:21.920664+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPATA16 was added\ngene: SPATA16 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: SPATA16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA16 were set to 17847006; 27086357; 29065458\nPhenotypes for gene: SPATA16 were set to Spermatogenic failure 6 MIM#102530; Spermatogenic failure 6 MONDO:0007060",
"entity_name": "SPATA16",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:52:45.074271+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSMF as ready",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:52:45.052275+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsmf has been classified as Red List (Low Evidence).",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:52:42.259787+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSMF were set to 15362570; 17235395; 21700882",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:52:29.921965+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NSMF: Added comment: PMIDs 31220265, 34348883, 35316923, 39010903, 39809967 report 10 unrelated families with heterozygous NSMF missense or truncating variants linked to functional hypogonadotropic hypogonadism, congenital hypogonadotropic hypogonadism, Kallmann syndrome, normosmic isolated HH, delayed‑puberty HH, and adult‑onset azoospermia. Variants are mostly classified as VUS; most are present in gnomAD, some at implausibly high frequencies; no functional assays or robust segregation data are provided. Therefore retain Red rating.; Changed publications: 15362570, 17235395, 21700882, 31220265, 34348883, 35316923, 39010903, 39809967; Changed phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:48:51.136813+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSMF were set to 15362570; 17235395; 21700882",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:48:23.315277+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NSMF: Changed publications: 15362570, 17235395, 21700882, 31220265, 34348883, 35316923, 39010903, 39809967",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:48:01.196131+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NSMF: Added comment: PMIDs 31220265, 34348883, 35316923, 39010903, 39809967 report 10 unrelated families with heterozygous NSMF missense or truncating variants linked to functional hypogonadotropic hypogonadism, congenital hypogonadotropic hypogonadism, Kallmann syndrome, normosmic isolated HH, delayed‑puberty HH, and adult‑onset azoospermia. Variants are mostly classified as VUS; most are present in gnomAD, some at implausibly high frequencies; no functional assays or robust segregation data are provided. Therefore retain Red rating.; Changed phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:47:35.534629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NSMF: Added comment: PMIDs 31220265, 34348883, 35316923, 39010903, 39809967 report 10 unrelated families with heterozygous NSMF missense or truncating variants linked to functional hypogonadotropic hypogonadism, congenital hypogonadotropic hypogonadism, Kallmann syndrome, normosmic isolated HH, delayed‑puberty HH, and adult‑onset azoospermia. Variants are mostly classified as VUS; most are present in gnomAD, some at implausibly high frequencies; no functional assays or robust segregation data are provided. Therefore retain Red rating.; Changed publications: 39809967, 39010903, 35316923, 34348883, 31220265; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NSMF",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:44:40.212021+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DUSP6 as ready",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:44:40.201487+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dusp6 has been classified as Red List (Low Evidence).",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:44:30.912710+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DUSP6 were set to 23643382; 32389901",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:44:09.815276+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DUSP6 were set to 23643382; 32389901",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:43:27.223777+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene DUSP6 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-31T12:43:27.036651+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene DUSP6 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-31T12:42:24.037198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DUSP6 were set to 23643382",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:41:59.623748+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 39809967, 37108593, 33819414; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:37:07.164230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DIAPH3 as Amber List (moderate evidence)",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:37:07.152210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:36:53.421113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DIAPH3: Changed rating: AMBER",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:36:44.909820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DIAPH3: Added comment: PMIDs 38860500 and 39767564: two further individuals reported, with different variant types (missense and frameshift) but little supporting evidence.; Changed publications: 23441200, 20624953, 38860500, 39767564",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:36:18.281134+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DIAPH3 were set to 23441200; 20624953; 27658576",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:35:49.882087+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DIAPH3: Added comment: PMIDs 38860500 and 39767564: two further individuals reported, with different variant types (missense and frameshift) but little supporting evidence.; Changed publications: 23441200, 20624953, 38860500, 39767564",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2025-12-31T12:31:34.506940+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DIAPH3: Changed rating: AMBER",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2025-12-31T07:55:19.848606+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SELENOI as ready",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-31T07:55:19.838742+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenoi has been classified as Green List (High Evidence).",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-31T07:54:35.552145+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SELENOI were changed from Cleft palate; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals to Spastic paraplegia 81, autosomal recessive, MIM# 618768",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-31T07:54:25.855905+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SELENOI were set to 28052917",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-31T07:54:12.773483+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SELENOI: Added comment: 8 individuals from 4 families reported now, only one with cleft palate.; Changed publications: 28052917, 39806532, 29500230, 33454747; Changed phenotypes: Spastic paraplegia 81, autosomal recessive, MIM# 618768",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-31T07:53:26.231642+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.134",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene SELENOI from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-31T07:53:11.274691+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.324",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SELENOI from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-31T07:53:10.089297+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SELENOI was added\ngene: SELENOI was added to Genetic Epilepsy. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SELENOI were set to 28052917; 39806532; 29500230; 33454747\nPhenotypes for gene: SELENOI were set to Spastic paraplegia 81, autosomal recessive, MIM# 618768",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-31T07:51:09.710140+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four families reported now, upgrade to Green. Although spasticity and motor delay are prominent, intellectual impairment and speech delay are also a feature.; to: 8 individuals from four families reported now, upgrade to Green. Although spasticity and motor delay are prominent, intellectual impairment and speech delay are also a feature. Profound ID in one individual, others described as mild or showing signs of regression.",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-31T07:50:14.410767+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SELENOI were changed from developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly to Spastic paraplegia 81, autosomal recessive, MIM# 618768",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-31T07:48:12.720239+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SELENOI were set to 28052917",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-31T07:47:42.012819+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SELENOI as Green List (high evidence)",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-31T07:47:42.002540+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenoi has been classified as Green List (High Evidence).",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-31T07:47:10.233910+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SELENOI: Added comment: Four families reported now, upgrade to Green. Although spasticity and motor delay are prominent, intellectual impairment and speech delay are also a feature.; Changed rating: GREEN; Changed publications: 28052917, 39806532, 29500230, 33454747; Changed phenotypes: Spastic paraplegia 81, autosomal recessive, MIM# 618768",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T22:13:31.937161+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SELENOI were changed from Neurodevelopmental disorder, MONDO:0700092, SELENOI-related to Spastic paraplegia 81, autosomal recessive, MIM# 618768",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T22:13:04.790290+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SELENOI: Changed phenotypes: Spastic paraplegia 81, autosomal recessive, MIM# 618768",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T22:12:48.160971+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 39806532: fourth family reported.; to: PMID 33454747: fourth family reported.",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T22:12:35.465056+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SELENOI were set to 39806532; 29500230; 28052917",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T22:12:11.035087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 39806532: fourth family reported.; to: PMID 33454747: fourth family reported.",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T22:11:30.586255+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SELENOI as Green List (high evidence)",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T22:11:30.575725+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenoi has been classified as Green List (High Evidence).",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T22:11:04.434090+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SELENOI: Added comment: PMID 39806532: fourth family reported.; Changed rating: GREEN; Changed publications: 39806532, 29500230, 28052917, 39806532",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T22:09:52.211236+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T22:09:46.081190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SELENOI: Added comment: Fourth family reported.; Changed publications: 33454747",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:52:46.332266+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SELENOI were changed from developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly to Spastic paraplegia 81, autosomal recessive, MIM# 618768",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:52:26.164343+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SELENOI were set to 28052917; 39806532; 29500230",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:52:08.731798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SELENOI as Green List (high evidence)",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:52:08.724052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenoi has been classified as Green List (High Evidence).",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:51:53.954500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SELENOI: Added comment: PMID 39806532: fourth family reported.; Changed rating: GREEN; Changed publications: 28052917, 29500230, 39806532, 33454747; Changed phenotypes: Spastic paraplegia 81, autosomal recessive, MIM# 618768",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:51:18.013705+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SELENOI were set to 28052917; 29500230",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:05:58.066229+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SELENOI were changed from Spastic paraplegia 81, autosomal recessive 618768; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals to Spastic paraplegia 81, autosomal recessive 618768",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:05:02.626541+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SELENOI as Green List (high evidence)",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:05:02.619189+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenoi has been classified as Green List (High Evidence).",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:04:50.435053+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SELENOI: Added comment: PMIDs 33454747 and 39806532 add 2 additional unrelated families (bringing the total to 4 families) with autosomal recessive loss-of-function SELENOI variants causing complicated hereditary spastic paraplegia. Core features include early‑onset spastic paraplegia, white matter abnormalities, intellectual disability, sensorineural deafness, blindness, seizures, microcephaly, bifid uvula/cleft palate, and retinal pigment abnormalities. Some functional data.; Changed rating: GREEN; Changed publications: 28052917, 29500230, 39806532, 33454747",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:02:54.896352+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SELENOI were changed from developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; microcephaly; bifid uvula in some affected individuals to Neurodevelopmental disorder, MONDO:0700092, SELENOI-related",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:02:27.442219+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SELENOI were set to 28052917",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:01:52.532263+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SELENOI: Added comment: PMIDs 29500230 and 39806532 add 2 additional unrelated families (bringing the total to 3 families) with autosomal recessive loss-of-function SELENOI variants causing complicated hereditary spastic paraplegia. Core features include early‑onset spastic paraplegia, white matter abnormalities, intellectual disability, sensorineural deafness, blindness, seizures, microcephaly, bifid uvula/cleft palate, and retinal pigment abnormalities. Some functional data.; Changed publications: 39806532, 29500230, 28052917; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SELENOI-related",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:01:09.949424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SELENOI were set to 28052917",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T17:00:44.042991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SELENOI: Added comment: PMIDs 29500230 and 39806532 add 2 additional unrelated families (bringing the total to 3 families) with autosomal recessive loss-of-function SELENOI variants causing complicated hereditary spastic paraplegia. Core features include early‑onset spastic paraplegia, white matter abnormalities, intellectual disability, sensorineural deafness, blindness, seizures, microcephaly, bifid uvula/cleft palate, and retinal pigment abnormalities. Some functional data.; Changed publications: 39806532, 29500230, 28052917; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SELENOI-related",
"entity_name": "SELENOI",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:30:27.315855+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GHSR as Green List (high evidence)",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:30:27.303362+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghsr has been classified as Green List (High Evidence).",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:30:19.647286+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GHSR: Added comment: PMIDs 39785833 adds 24 unrelated families (25 individuals) with heterozygous loss‑of‑function GHSR variants and in‑vitro functional validation and short stature; PMIDs 37443653, 38838658, 37019085, 30753492, 36714562 contain additional families (singletons) with heterozygous or homozygous variants and detailed clinical data.; Changed rating: GREEN; Changed publications: 25557026, 19789204, 16511605, 39785833, 25557026, 37443653, 38838658, 37019085, 30753492, 36714562",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:29:59.486816+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GHSR were set to 19789204; 25557026; 16511605",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:29:49.986090+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GHSR as Green List (high evidence)",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:29:49.976909+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghsr has been classified as Green List (High Evidence).",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:29:41.924159+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GHSR: Added comment: PMIDs 39785833 adds 24 unrelated families (25 individuals) with heterozygous loss‑of‑function GHSR variants and in‑vitro functional validation and short stature; PMIDs 37443653, 38838658, 37019085, 30753492, 36714562 contain additional families (singletons) with heterozygous or homozygous variants and detailed clinical data.; Changed rating: GREEN; Changed publications: 39785833, 25557026, 37443653, 38838658, 37019085, 30753492, 36714562",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:28:29.517481+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene GHSR from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T16:28:29.292453+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene GHSR from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T16:28:05.597201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GHSR as Green List (high evidence)",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:28:05.587237+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghsr has been classified as Green List (High Evidence).",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:27:52.422883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GHSR: Added comment: PMIDs 39785833 adds 24 unrelated families (25 individuals) with heterozygous loss‑of‑function GHSR variants and in‑vitro functional validation and short stature; PMIDs 37443653, 38838658, 37019085, 30753492, 36714562 contain additional families (singletons) with heterozygous or homozygous variants and detailed clinical data.; Changed rating: GREEN; Changed publications: 39785833, 25557026, 37443653, 38838658, 37019085, 30753492, 36714562",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:18:03.165888+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COA5 were set to 27604308",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:17:50.796564+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COA5: Added comment: Second family reported but same homozygous missense.; Changed publications: 21457908, 36641477",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:17:30.436393+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COA5 were set to 21457908",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:17:02.879029+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COA5: Added comment: Second family reported but same homozygous missense variant.; Changed publications: 21457908, 36641477",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:16:35.958788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COA5 were set to 21457908",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:16:17.917071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COA5: Added comment: Second family reported but same homozygous missense variant.; Changed publications: 21457908, 36641477",
"entity_name": "COA5",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:14:13.006879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPCN2 were set to 20197744; 26918892",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:13:45.881799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPCN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:13:30.571245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TPCN2 as Amber List (moderate evidence)",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:13:30.561128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpcn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:11:10.231726+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMT1L as ready",
"entity_name": "TRMT1L",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:11:10.224952+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.51",
"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": "2025-12-30T16:11:00.892708+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMT1L as ready",
"entity_name": "TRMT1L",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:11:00.879396+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.335",
"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": "2025-12-30T16:10:49.511478+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMT1L as ready",
"entity_name": "TRMT1L",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:10:49.504583+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.531",
"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": "2025-12-30T16:10:41.023447+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMT1L as ready",
"entity_name": "TRMT1L",
"entity_type": "gene"
},
{
"created": "2025-12-30T16:10:41.013831+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.7",
"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": "2025-12-30T16:09:56.991519+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TRMT1L from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T16:09:56.877814+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMT1L was added\ngene: TRMT1L was added to Leukodystrophy - paediatric. 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": "2025-12-30T16:09:44.368583+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.531",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TRMT1L from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T16:09:43.977942+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMT1L was added\ngene: TRMT1L was added to Intellectual disability syndromic and non-syndromic. 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": "2025-12-30T16:09:03.340117+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TRMT1L from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-30T16:09:03.145969+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMT1L was added\ngene: TRMT1L was added to Hereditary Neuropathy - complex. 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"
}
]
}