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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=67",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=65",
"results": [
{
"created": "2026-01-06T12:12:36.841804+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.544",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: CAMK2G were changed from Mental retardation, autosomal dominant 59, MIM#\t618522 to Intellectual developmental disorder, autosomal dominant 59 MIM#\t618522",
"entity_name": "CAMK2G",
"entity_type": "gene"
},
{
"created": "2026-01-06T12:12:08.425032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3969",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: CAMK2G were changed from Mental retardation, autosomal dominant 59, MIM# 618522 to Intellectual developmental disorder, autosomal dominant 59\tMIM# 618522",
"entity_name": "CAMK2G",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:58:13.912856+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.157",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: CEL were set to 19760265; 21784842; 27650499; 18544793; 17989309; 24062244; 16369531; 25160620",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:57:40.053044+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3968",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CEL was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:57:12.072116+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.156",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CEL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:56:41.705294+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.155",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CEL as Green List (high evidence)",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:56:41.702204+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.155",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Remains technically challenging but most of critical region (First 5 repeats of exon 11 VNTR) are callable on short read data.",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:56:41.685875+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.155",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cel has been classified as Green List (High Evidence).",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:56:16.000875+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.154",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: CEL.",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:55:53.301194+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.154",
"user_name": "Seb Lunke",
"item_type": "panel",
"text": "Added reviews for gene CEL from panel Maturity-onset Diabetes of the Young",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-06T10:54:55.164853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3967",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: CEL.",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:53:31.883610+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3967",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: Dominant Negative Gain-of-Function experimentally established",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:53:31.865327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3967",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CEL was changed from to Other",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:52:17.840538+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3966",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: CEL were set to 24062244; 21784842; 19760265; 18544793; 17989309; 16369531; 29233499; 27650499",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:51:42.701579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3965",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CEL as Green List (high evidence)",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:51:42.696038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3965",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Remains technically challenging but most of critical region (First 5 repeats of exon 11 VNTR) are callable on short read data.",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:51:42.673133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3965",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cel has been classified as Green List (High Evidence).",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:33:49.480618+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.153",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2026-01-06T10:32:26.142141+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3964",
"user_name": "Seb Lunke",
"item_type": "panel",
"text": "Added reviews for gene CEL from panel Genomic screening in children: BabyScreen+",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-06T10:31:51.187534+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.153",
"user_name": "Seb Lunke",
"item_type": "panel",
"text": "Added reviews for gene CEL from panel Genomic screening in children: BabyScreen+",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-05T15:01:51.592167+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APBB1 as ready",
"entity_name": "APBB1",
"entity_type": "gene"
},
{
"created": "2026-01-05T15:01:51.585329+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apbb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "APBB1",
"entity_type": "gene"
},
{
"created": "2026-01-05T15:01:23.903909+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene APBB1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-05T15:01:23.830574+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APBB1 was added\ngene: APBB1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: APBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: APBB1 were set to 40151319\nPhenotypes for gene: APBB1 were set to Infertility disorder, MONDO:0005047, APBB1-related",
"entity_name": "APBB1",
"entity_type": "gene"
},
{
"created": "2026-01-05T15:01:06.645999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APBB1 as ready",
"entity_name": "APBB1",
"entity_type": "gene"
},
{
"created": "2026-01-05T15:01:06.637803+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apbb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "APBB1",
"entity_type": "gene"
},
{
"created": "2026-01-05T15:00:57.176193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APBB1 as Amber List (moderate evidence)",
"entity_name": "APBB1",
"entity_type": "gene"
},
{
"created": "2026-01-05T15:00:57.166150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apbb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "APBB1",
"entity_type": "gene"
},
{
"created": "2026-01-05T15:00:42.537424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APBB1 was added\ngene: APBB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: APBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: APBB1 were set to 40151319\nPhenotypes for gene: APBB1 were set to Infertility disorder, MONDO:0005047, APBB1-related\nReview for gene: APBB1 was set to AMBER\nAdded comment: PMID 40151319 reports 9 individuals from 9 unrelated families with heterozygous variants (missense, nonsense, frameshift) in APBB1 presenting with non‑obstructive azoospermia (NOA). The study provides mouse conditional knockout and human spermatogonial stem cell knock‑down functional data supporting a role for APBB1 loss of function in spermatogenic failure. Missing segregation data and at least 2 of the reported variants are present at high frequencies in gnomAD. \nSources: Literature",
"entity_name": "APBB1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:53:19.905891+11:00",
"panel_name": "Leukodystrophy",
"panel_id": 298,
"panel_version": "0.388",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Leukodystrophy - paediatric to Leukodystrophy",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:51:27.358573+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.387",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR PRNP_CJD_octapeptide from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:51:27.240414+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.387",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PRNP_CJD_octapeptide was added\nSTR: PRNP_CJD_octapeptide was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for STR: PRNP_CJD_octapeptide was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PRNP_CJD_octapeptide were set to 2159587; 20301407\nPhenotypes for STR: PRNP_CJD_octapeptide were set to Creutzfeldt-Jakob disease MIM#123400; Gerstmann-Straussler disease MIM#137440",
"entity_name": "PRNP_CJD_octapeptide",
"entity_type": "str"
},
{
"created": "2026-01-04T21:51:04.864633+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.386",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR NOTCH2NLC_NIID_GGC from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:51:04.738500+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.386",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NOTCH2NLC_NIID_GGC was added\nSTR: NOTCH2NLC_NIID_GGC was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for STR: NOTCH2NLC_NIID_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NOTCH2NLC_NIID_GGC were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668\nPhenotypes for STR: NOTCH2NLC_NIID_GGC were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2026-01-04T21:50:35.257482+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.385",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR C9orf72_FTDALS_GGGGCC from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:50:35.030793+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.385",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: C9orf72_FTDALS_GGGGCC was added\nSTR: C9orf72_FTDALS_GGGGCC was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for STR: C9orf72_FTDALS_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: C9orf72_FTDALS_GGGGCC were set to 36970046; 36632182\nPhenotypes for STR: C9orf72_FTDALS_GGGGCC were set to frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105\nPenetrance for STR: C9orf72_FTDALS_GGGGCC were set to Incomplete",
"entity_name": "C9orf72_FTDALS_GGGGCC",
"entity_type": "str"
},
{
"created": "2026-01-04T21:49:44.671477+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.384",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ZNF319 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:49:44.541344+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.384",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZNF319 was added\ngene: ZNF319 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ZNF319 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF319 were set to 40820230\nPhenotypes for gene: ZNF319 were set to Leukodystrophy, MONDO:0019046, ZNF319-related",
"entity_name": "ZNF319",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:49:23.396147+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.383",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene UNC13D from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:49:23.283236+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.383",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UNC13D was added\ngene: UNC13D was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Expert list\nMode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3 608898",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:48:59.080420+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.382",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TYROBP from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:48:58.967278+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.382",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TYROBP was added\ngene: TYROBP was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:48:25.378867+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.381",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TREM2 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:48:25.261511+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.381",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TREM2 was added\ngene: TREM2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TREM2 were set to 12080485; 15883308\nPhenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:48:03.694959+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.380",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TPP2 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:48:03.558552+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.380",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TPP2 was added\ngene: TPP2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Expert Review\nMode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPP2 were set to 25414442\nPhenotypes for gene: TPP2 were set to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220",
"entity_name": "TPP2",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:47:07.095002+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.379",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene STXBP2 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:47:06.979301+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.379",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: STXBP2 was added\ngene: STXBP2 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Expert list\nMode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5 613101",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:46:35.493222+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.378",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SPG7 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:46:35.376857+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.378",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPG7 was added\ngene: SPG7 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPG7 were set to 20108356; 17646629\nPhenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive 607259",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:45:38.947464+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.377",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SPG21 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:45:38.815576+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.377",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPG21 was added\ngene: SPG21 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Expert list\nnew gene name tags were added to gene: SPG21.\nMode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPG21 were set to 14564668\nPhenotypes for gene: SPG21 were set to Mast syndrome 248900",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:44:47.448681+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.376",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SPAST from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:44:47.334972+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.376",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPAST was added\ngene: SPAST was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPAST were set to 23968121\nPhenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant 182601",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:43:42.384558+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.375",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RPS6KA3 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:43:42.247831+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.375",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPS6KA3 was added\ngene: RPS6KA3 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: RPS6KA3 were set to 16691578\nPhenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome, 303600",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:43:01.563204+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.374",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RNF216 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:43:01.370734+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.374",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNF216 was added\ngene: RNF216 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF216 were set to 28334938; 26250479\nPhenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:42:10.704446+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.373",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PSEN2 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:42:10.560867+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.373",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PSEN2 was added\ngene: PSEN2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other\nMode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSEN2 were set to 36845656\nPhenotypes for gene: PSEN2 were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140\nMode of pathogenicity for gene: PSEN2 was set to Other",
"entity_name": "PSEN2",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:41:42.883488+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.372",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PSEN1 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:41:42.747200+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.372",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PSEN1 was added\ngene: PSEN1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other\nMode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSEN1 were set to 36845656\nPhenotypes for gene: PSEN1 were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140\nMode of pathogenicity for gene: PSEN1 was set to Other",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:41:08.355001+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.371",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PRNP from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:41:08.236887+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.371",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRNP was added\ngene: PRNP was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other\nMode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRNP were set to 25220284; 24252267\nPhenotypes for gene: PRNP were set to fatal familial insomnia MONDO:0010808\nMode of pathogenicity for gene: PRNP was set to Other",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:40:11.867601+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.370",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene POLG2 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:40:11.749038+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.370",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLG2 was added\ngene: POLG2 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLG2 were set to 25655951\nPhenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:39:39.477797+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.369",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PLD3 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:39:39.352743+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.369",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLD3 was added\ngene: PLD3 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: PLD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLD3 were set to PMID: 34267643\nPhenotypes for gene: PLD3 were set to Leukodystrophy",
"entity_name": "PLD3",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:38:47.877252+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.368",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PAH from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:38:47.765721+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.368",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PAH was added\ngene: PAH was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\ntreatable tags were added to gene: PAH.\nMode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAH were set to 31636599; 32141105\nPhenotypes for gene: PAH were set to Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:38:16.749491+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.367",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NPC2 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:38:16.478533+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.367",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NPC2 was added\ngene: NPC2 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPC2 were set to 25396745\nPhenotypes for gene: NPC2 were set to Niemann-pick disease, type C2 607625",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:37:02.227592+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.366",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NOTCH3 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:37:01.968122+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.366",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NOTCH3 was added\ngene: NOTCH3 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NOTCH3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: NOTCH3 were set to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:36:06.815614+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.365",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene MTHFR from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:36:06.702111+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.365",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTHFR was added\ngene: MTHFR was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTHFR were set to 29391032\nPhenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:35:19.922489+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.364",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene MARS from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:35:19.811037+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.364",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MARS was added\ngene: MARS was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MARS were set to Charcot-Marie-Tooth disease, axonal, type 2U, 616280",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:34:34.189567+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.363",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene MAPT from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:34:34.068564+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.363",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAPT was added\ngene: MAPT was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPT were set to 33802612; 36970046\nPhenotypes for gene: MAPT were set to semantic dementia\tMONDO:0010857\nMode of pathogenicity for gene: MAPT was set to Other",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:33:50.897658+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.362",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene MAN2B1 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:33:50.758499+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.362",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAN2B1 was added\ngene: MAN2B1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM#248500",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:33:06.404418+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.361",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene LMNB1 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:33:06.258740+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.361",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LMNB1 was added\ngene: LMNB1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital,Australian Genomcis Health Alliance Leukodystrophy Flagship,Victorian Clinical Genetics Services\nSV/CNV tags were added to gene: LMNB1.\nMode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMNB1 were set to 16951681; 30842973\nPhenotypes for gene: LMNB1 were set to Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500; Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:32:33.487781+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.360",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene LARS2 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:32:33.357293+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.360",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LARS2 was added\ngene: LARS2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LARS2 were set to 32442335; 30737337\nPhenotypes for gene: LARS2 were set to Leukodystrophy",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:31:09.066417+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.359",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: LAMB1 were set to 29888467; 25925986",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:30:55.057855+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.358",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:29:56.630935+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.357",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LAMB1 as Green List (high evidence)",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:29:56.622546+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.357",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lamb1 has been classified as Green List (High Evidence).",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:29:17.460728+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.356",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene LAMB1 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:28:13.768471+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.355",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ITM2B from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:28:13.643244+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.355",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ITM2B was added\ngene: ITM2B was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Other\nMode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ITM2B were set to 10775542\nPhenotypes for gene: ITM2B were set to ABri amyloidosis MONDO:0008306\nMode of pathogenicity for gene: ITM2B was set to Other",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:27:15.331998+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.354",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HTRA1 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:27:15.211721+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.354",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HTRA1 was added\ngene: HTRA1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HTRA1 were set to Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; CARASIL syndrome, 600142",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:26:20.774055+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.353",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GRN from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:26:20.641468+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.353",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRN was added\ngene: GRN was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other\nMode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRN were set to 36970046; 36632182\nPhenotypes for gene: GRN were set to GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:25:26.400441+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.352",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GLA from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T21:25:26.289508+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.352",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GLA was added\ngene: GLA was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GLA were set to Fabry disease, Fabry disease, cardiac variant, 301500",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2026-01-04T21:24:46.415347+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.351",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GJB1 from panel Leukodystrophy - adult onset",
"entity_name": null,
"entity_type": null
}
]
}