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{
"count": 220504,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=107",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=105",
"results": [
{
"created": "2025-11-30T20:14:22.809239+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: ATXN8OS_SCA8_CTG as ready",
"entity_name": "ATXN8OS_SCA8_CTG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:14:22.799015+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atxn8os_sca8_ctg has been classified as Green List (High Evidence).",
"entity_name": "ATXN8OS_SCA8_CTG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:14:18.935603+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: ATXN8OS_SCA8_CTG as Green List (high evidence)",
"entity_name": "ATXN8OS_SCA8_CTG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:14:18.928026+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atxn8os_sca8_ctg has been classified as Green List (High Evidence).",
"entity_name": "ATXN8OS_SCA8_CTG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:13:28.612643+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ATXN8OS_SCA8_CTG was added\nSTR: ATXN8OS_SCA8_CTG was added to Ataxia. Sources: Expert List\nMode of inheritance for STR: ATXN8OS_SCA8_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATXN8OS_SCA8_CTG were set to 20301445\nPhenotypes for STR: ATXN8OS_SCA8_CTG were set to Spinocerebellar ataxia 8 MIM#608768\nReview for STR: ATXN8OS_SCA8_CTG was set to GREEN\nSTR: ATXN8OS_SCA8_CTG was marked as clinically relevant\nSTR: ATXN8OS_SCA8_CTG was marked as current diagnostic\nAdded comment: NR_002717.2:n.1073CTA[X]1103CTG[X]\r\nATXN8 (CAG)n(TAG)n vs ATXN8OS on opposite strand (CTA)n(CTG)n\r\nBoth toxic RNA and toxic protein gain of function mechanisms likely contribute to disease mechanism\r\nNormal alleles: 15-50 combined (CTA·TAG)n(CTG·CAG)n repeats\r\nAlleles of questionable significance: 50-70 repeats.\r\nReduced penetrance allele size: found for (CTA·TAG)n(CTG·CAG)n repeats of all sizes\r\nHigher penetrance allele size: ≥80 (CTA·TAG)n(CTG·CAG)n repeats most often seen in individuals with ataxia; however, repeat sizes ranging from 71 to more than 1300 repeats have been found both in individuals who develop ataxia and in those who do not. \nSources: Expert List",
"entity_name": "ATXN8OS_SCA8_CTG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:09:51.369832+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: ATXN7_SCA7_CAG as ready",
"entity_name": "ATXN7_SCA7_CAG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:09:51.360975+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atxn7_sca7_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN7_SCA7_CAG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:09:45.368885+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: ATXN7_SCA7_CAG as Green List (high evidence)",
"entity_name": "ATXN7_SCA7_CAG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:09:45.361958+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atxn7_sca7_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN7_SCA7_CAG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:09:03.541219+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ATXN7_SCA7_CAG was added\nSTR: ATXN7_SCA7_CAG was added to Ataxia. Sources: Expert List\nMode of inheritance for STR: ATXN7_SCA7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATXN7_SCA7_CAG were set to 29325606; 20301433\nPhenotypes for STR: ATXN7_SCA7_CAG were set to Spinocerebellar ataxia 7 MIM#164500\nReview for STR: ATXN7_SCA7_CAG was set to GREEN\nSTR: ATXN7_SCA7_CAG was marked as clinically relevant\nSTR: ATXN7_SCA7_CAG was marked as current diagnostic\nAdded comment: NM_000333.3:c.89_91AGC[X]\r\nGain of function mechanism of disease\r\nNormal: ≤27 repeats\r\nMutable normal: 28-33 repeats, meiotically unstable, but not associated with an abnormal phenotype.\r\nPathogenic reduced penetrance: 34-36 repeats, when manifestations occur, they are more likely to be later onset and milder than average\r\nPathogenic full penetrance: 37-460 repeats \nSources: Expert List",
"entity_name": "ATXN7_SCA7_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T21:19:50.129956+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: ATXN3_SCA3_CAG as ready",
"entity_name": "ATXN3_SCA3_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T21:19:50.118020+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atxn3_sca3_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN3_SCA3_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T21:19:39.842577+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: ATXN3_SCA3_CAG as Green List (high evidence)",
"entity_name": "ATXN3_SCA3_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T21:19:39.831982+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atxn3_sca3_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN3_SCA3_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T21:19:03.395986+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ATXN3_SCA3_CAG was added\nSTR: ATXN3_SCA3_CAG was added to Ataxia. Sources: Expert List\nMode of inheritance for STR: ATXN3_SCA3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATXN3_SCA3_CAG were set to 20301375; 29325606\nPhenotypes for STR: ATXN3_SCA3_CAG were set to Machado-Joseph disease MIM#109150; Spinocerebellar ataxia type 3\nReview for STR: ATXN3_SCA3_CAG was set to GREEN\nSTR: ATXN3_SCA3_CAG was marked as clinically relevant\nSTR: ATXN3_SCA3_CAG was marked as current diagnostic\nAdded comment: NM_004993.5:c.886_888CAG[X]\r\nToxic aggregation and mislocalization in neurons is mechanism of disease\r\nNormal: ≤44 repeats, mostly <31 repeats\r\nIntermediate: 45-59 repeats, some intermediate alleles are not associated with classic clinical features of SCA3\r\nPathogenic (full penetrance): ≥60 repeats \nSources: Expert List",
"entity_name": "ATXN3_SCA3_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T21:13:06.119292+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: ATXN1_SCA1_CAG as ready",
"entity_name": "ATXN1_SCA1_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T21:13:06.107819+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atxn1_sca1_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN1_SCA1_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T21:12:55.837124+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: ATXN1_SCA1_CAG as Green List (high evidence)",
"entity_name": "ATXN1_SCA1_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T21:12:55.826614+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atxn1_sca1_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN1_SCA1_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T21:12:24.188976+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ATXN1_SCA1_CAG was added\nSTR: ATXN1_SCA1_CAG was added to Ataxia. Sources: Expert List\nMode of inheritance for STR: ATXN1_SCA1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATXN1_SCA1_CAG were set to 29325606; 20301363\nPhenotypes for STR: ATXN1_SCA1_CAG were set to Spinocerebellar ataxia 1 MIM#164400\nReview for STR: ATXN1_SCA1_CAG was set to GREEN\nSTR: ATXN1_SCA1_CAG was marked as clinically relevant\nSTR: ATXN1_SCA1_CAG was marked as current diagnostic\nAdded comment: NM_000332.3:c.589_591CAG[X]\r\nToxic protein aggregation is mechanism of disease\r\nNormal: ≤35 CAG repeats or 36-44 CAG repeats with CAT interruptions\r\nMutable normal (intermediate): 36-38 CAG repeats without CAT interruptions\r\nFull-penetrance: ≥39 CAG repeats without CAT interruptions or ≥46 uninterrupted CAG repeats with CAT interruptions and additional CAGs \nSources: Expert List",
"entity_name": "ATXN1_SCA1_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T21:04:14.557384+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: ATXN10_SCA10_ATTCT as ready",
"entity_name": "ATXN10_SCA10_ATTCT",
"entity_type": "str"
},
{
"created": "2025-11-29T21:04:14.550877+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atxn10_sca10_attct has been classified as Green List (High Evidence).",
"entity_name": "ATXN10_SCA10_ATTCT",
"entity_type": "str"
},
{
"created": "2025-11-29T21:02:38.868443+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: ATXN10_SCA10_ATTCT as Green List (high evidence)",
"entity_name": "ATXN10_SCA10_ATTCT",
"entity_type": "str"
},
{
"created": "2025-11-29T21:02:38.861988+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atxn10_sca10_attct has been classified as Green List (High Evidence).",
"entity_name": "ATXN10_SCA10_ATTCT",
"entity_type": "str"
},
{
"created": "2025-11-29T21:02:16.971768+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ATXN10_SCA10_ATTCT was added\nSTR: ATXN10_SCA10_ATTCT was added to Ataxia. Sources: Expert List\nMode of inheritance for STR: ATXN10_SCA10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATXN10_SCA10_ATTCT were set to 20301354\nPhenotypes for STR: ATXN10_SCA10_ATTCT were set to Spinocerebellar ataxia 10 MIM#603516\nReview for STR: ATXN10_SCA10_ATTCT was set to GREEN\nSTR: ATXN10_SCA10_ATTCT was marked as clinically relevant\nSTR: ATXN10_SCA10_ATTCT was marked as current diagnostic\nAdded comment: NM_013236.2:c.1430+54822ATTCT[X]\r\nToxic RNA gain-of-function mechanism of disease\r\nNormal alleles: 10-32 ATTCT repeats\r\nAlleles of questionable significance: 33-280 ATTCT repeats\r\nReduced-penetrance alleles: 33-850 repeats\r\nFull-penetrance alleles: 800-4,500 ATTCT repeats \nSources: Expert List",
"entity_name": "ATXN10_SCA10_ATTCT",
"entity_type": "str"
},
{
"created": "2025-11-29T20:56:34.930111+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: ATN1_DRPLA_CAG as ready",
"entity_name": "ATN1_DRPLA_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T20:56:34.901700+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atn1_drpla_cag has been classified as Green List (High Evidence).",
"entity_name": "ATN1_DRPLA_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T20:56:29.719305+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: ATN1_DRPLA_CAG as Green List (high evidence)",
"entity_name": "ATN1_DRPLA_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T20:56:29.709790+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atn1_drpla_cag has been classified as Green List (High Evidence).",
"entity_name": "ATN1_DRPLA_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T20:55:53.774209+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ATN1_DRPLA_CAG was added\nSTR: ATN1_DRPLA_CAG was added to Ataxia. Sources: Expert List\nMode of inheritance for STR: ATN1_DRPLA_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATN1_DRPLA_CAG were set to 29325606; 20301664\nPhenotypes for STR: ATN1_DRPLA_CAG were set to Dentatorubral-pallidoluysian atrophy MIM#125370\nReview for STR: ATN1_DRPLA_CAG was set to GREEN\nSTR: ATN1_DRPLA_CAG was marked as clinically relevant\nSTR: ATN1_DRPLA_CAG was marked as current diagnostic\nAdded comment: NM_001007026.1:c.1462_1464CAG[X]\r\nToxic gain of function mechanism of disease\r\nBenign: ≤35 repeats\r\nMutable normal: 20-35 repeats\r\nPathogenic: ≥48 repeats\r\nAge <20 years: ≥63 repeats - ataxia, myoclonus, seizures, progressive intellectual deterioration\r\nAge 21-40 years 61-69 repeats, >40 years 48-67 repeats: ataxia, choreoathetosis, dementia, psychiatric disturbance\r\nSources: Expert list \nSources: Expert List",
"entity_name": "ATN1_DRPLA_CAG",
"entity_type": "str"
},
{
"created": "2025-11-29T20:42:21.428682+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.121",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ZFYVE26 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:42:21.243383+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Ataxia. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFYVE26 were set to 24367272; 18394578\nPhenotypes for gene: ZFYVE26 were set to Autosomal recessive spastic paraplegia 15, 270700",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:37:55.384313+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.120",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene UBR4 from panel Episodic Ataxia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:37:12.052368+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.119",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene VWA3B from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:37:11.816331+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VWA3B was added\ngene: VWA3B was added to Ataxia. Sources: Expert Review Red,Royal Melbourne Hospital,GeneReviews\nMode of inheritance for gene: VWA3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VWA3B were set to 26157035\nPhenotypes for gene: VWA3B were set to ?Spinocerebellar ataxia, autosomal recessive 22",
"entity_name": "VWA3B",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:36:36.461369+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.118",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene VAMP1 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:36:36.206596+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VAMP1 was added\ngene: VAMP1 was added to Ataxia. Sources: Expert Review Amber,Royal Melbourne Hospital\nfounder tags were added to gene: VAMP1.\nMode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: VAMP1 were set to 22958904\nPhenotypes for gene: VAMP1 were set to Autosomal dominant spastic ataxia 1, 108600; Spastic ataxia 1, autosomal dominant, 108600",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:34:32.419392+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.117",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TTBK2 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:34:32.223211+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTBK2 was added\ngene: TTBK2 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11, 604432; Spinocerebellar ataxia 11",
"entity_name": "TTBK2",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:33:09.725561+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TSEN54 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:33:09.522696+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSEN54 was added\ngene: TSEN54 was added to Ataxia. Sources: Expert list,Expert Review Red,Expert list\nMode of inheritance for gene: TSEN54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TSEN54 were set to 24938831\nPhenotypes for gene: TSEN54 were set to adult-onset cerebellar ataxia",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:29:25.196155+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.115",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TRPC3 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:29:25.011075+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRPC3 was added\ngene: TRPC3 was added to Ataxia. Sources: Expert Review Amber,Royal Melbourne Hospital,GeneReviews\nMode of inheritance for gene: TRPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRPC3 were set to 25477146; 26112884",
"entity_name": "TRPC3",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:28:37.841314+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.114",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TGM6 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:28:37.641928+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TGM6 was added\ngene: TGM6 was added to Ataxia. Sources: Expert Review Red,Expert Review Red,Royal Melbourne Hospital,Victorian Clinical Genetics Services\nrefuted tags were added to gene: TGM6.\nMode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TGM6 were set to 25253745; 21106500; 28934387; 22554020; 30670339; 29053796; 23206699\nPhenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35, 613908; Spinocerebellar ataxia 35",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:28:04.431602+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.113",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TDP1 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:28:04.195291+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TDP1 was added\ngene: TDP1 was added to Ataxia. Sources: Expert Review Amber,Royal Melbourne Hospital\nfounder tags were added to gene: TDP1.\nMode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDP1 were set to 31182267; 12244316\nPhenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250",
"entity_name": "TDP1",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:27:21.299457+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.112",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SYT14 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:27:21.006036+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SYT14 was added\ngene: SYT14 was added to Ataxia. Sources: Expert Review Red,Royal Melbourne Hospital,GeneReviews,Expert Review Red,Victorian Clinical Genetics Services\nMode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SYT14 were set to 21835308\nPhenotypes for gene: SYT14 were set to ?Spinocerebellarataxia,autosomalrecessive11,614229",
"entity_name": "SYT14",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:24:39.118446+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.111",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SPG7 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:24:38.141380+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPG7 was added\ngene: SPG7 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPG7 were set to Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia; Autosomal recessive spastic paraplegia 7, 607259",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:22:53.501809+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.110",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SEPSECS from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:22:53.294049+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SEPSECS was added\ngene: SEPSECS was added to Ataxia. Sources: Expert Review Red,Expert list,Victorian Clinical Genetics Services\nMode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEPSECS were set to 29464431\nPhenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811; cerebellar ataxia and cognitive impairment",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:20:42.704503+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SDHA from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:20:42.523445+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SDHA was added\ngene: SDHA was added to Ataxia. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SDHA were set to 10976639; 27683074\nPhenotypes for gene: SDHA were set to Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:16:37.411824+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.108",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SAMD9L from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:16:37.220226+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SAMD9L was added\ngene: SAMD9L was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SAMD9L were set to 35310830; 33884299; 28570036\nPhenotypes for gene: SAMD9L were set to Spinocerebellar ataxia 49, MIM# 619806; Ataxia-pancytopaenia syndrome, MIM# 159550",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:10:46.529544+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.107",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RNF170 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:10:46.320587+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNF170 was added\ngene: RNF170 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RNF170 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNF170 were set to 32943585; 21115467\nPhenotypes for gene: RNF170 were set to Ataxia, sensory, 1, autosomal dominant, MIM# 608984",
"entity_name": "RNF170",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:09:22.051057+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.106",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RFC1 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:09:21.834098+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RFC1 was added\ngene: RFC1 was added to Ataxia. Sources: Expert Review Green,Expert list,Literature\nSTR tags were added to gene: RFC1.\nMode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFC1 were set to 30926972; 33103729; 35883251; 36478048; 36289003\nPhenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:07:52.647495+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.105",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PUM1 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:07:52.456562+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PUM1 was added\ngene: PUM1 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PUM1 were set to Spinocerebellar ataxia 47, 617931",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:07:16.393733+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.104",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PRPS1 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:07:16.189265+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRPS1 was added\ngene: PRPS1 was added to Ataxia. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: PRPS1 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: PRPS1 were set to 33898739; 28967191\nPhenotypes for gene: PRPS1 were set to Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:05:07.016997+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.103",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PRNP from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:05:06.834833+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRNP was added\ngene: PRNP was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRNP were set to 2564168; 34324063; 20301407\nPhenotypes for gene: PRNP were set to Multiple allelic disorders reported; Huntington disease-like 1; Autosomal Dominant Ataxia; Gerstmann-Straussler disease; Insomnia, fatal familial; Creutzfeldt-Jakob disease",
"entity_name": "PRNP",
"entity_type": "gene"
},
{
"created": "2025-11-29T20:04:00.479033+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.102",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PNPT1 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T20:04:00.214137+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PNPT1 was added\ngene: PNPT1 was added to Ataxia. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PNPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PNPT1 were set to 35411967; 37935417; 39729134; 39899068; 39924761; 40757543\nPhenotypes for gene: PNPT1 were set to Spinocerebellar ataxia 25, MIM#\t608703",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2025-11-29T19:59:58.706711+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3727",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene PLD3 from panel Ataxia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T19:58:39.111202+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.101",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PLD3 were set to 30312375; 30312384; 29053796",
"entity_name": "PLD3",
"entity_type": "gene"
},
{
"created": "2025-11-29T19:58:05.791348+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: PLD3: Added comment: Another rare missense c.77T>C p.Ile26Thr was identified in a SCA case. Now, 2 reported variants are associated with SCA.; Changed publications: 29053796, 30312375, 30312384, 38059248",
"entity_name": "PLD3",
"entity_type": "gene"
},
{
"created": "2025-11-29T19:47:26.113227+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.100",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PLD3 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T19:47:25.928151+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.100",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLD3 was added\ngene: PLD3 was added to Ataxia. Sources: Expert Review Amber,Royal Melbourne Hospital,GeneReviews\nMode of inheritance for gene: PLD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PLD3 were set to 30312375; 30312384; 29053796\nPhenotypes for gene: PLD3 were set to ?Spinocerebellar ataxia 46",
"entity_name": "PLD3",
"entity_type": "gene"
},
{
"created": "2025-11-29T19:32:37.781561+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.99",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PDYN from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T19:32:37.595436+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.99",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDYN was added\ngene: PDYN was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PDYN were set to Spinocerebellar ataxia 23; Spinocerebellar ataxia 23, 610245",
"entity_name": "PDYN",
"entity_type": "gene"
},
{
"created": "2025-11-29T19:31:07.305977+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.98",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NPTX1 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T19:31:07.127547+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.98",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NPTX1 was added\ngene: NPTX1 was added to Ataxia. Sources: Expert Review Green,Literature\nMode of inheritance for gene: NPTX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NPTX1 were set to 34788392; 35288776; 35285082; 35560436\nPhenotypes for gene: NPTX1 were set to cerebellar ataxia MONDO#0000437, NPTX1-related",
"entity_name": "NPTX1",
"entity_type": "gene"
},
{
"created": "2025-11-29T19:30:34.933543+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.97",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NOL3 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T19:30:34.683423+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.97",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NOL3 was added\ngene: NOL3 was added to Ataxia. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: NOL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NOL3 were set to 22926851\nPhenotypes for gene: NOL3 were set to Myoclonus, familial cortical",
"entity_name": "NOL3",
"entity_type": "gene"
},
{
"created": "2025-11-29T19:29:55.536192+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.96",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene MME from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T19:29:55.336343+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.96",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MME was added\ngene: MME was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,GeneReviews,Expert Review Red,Victorian Clinical Genetics Services\nMode of inheritance for gene: MME was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MME were set to 27583304\nPhenotypes for gene: MME were set to ?Spinocerebellar ataxia type 43, 617018",
"entity_name": "MME",
"entity_type": "gene"
},
{
"created": "2025-11-29T19:29:02.482671+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.95",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene LMNB1 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T19:29:02.181316+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.95",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LMNB1 was added\ngene: LMNB1 was added to Ataxia. Sources: Expert Review Green,Expert Review Green,Expert list,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 31695592\nPhenotypes for gene: LMNB1 were set to Leukodystrophy, adult-onset, autosomal dominant MIM#169500",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2025-11-29T19:25:38.697826+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.94",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ITM2B from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T19:25:38.440392+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.94",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ITM2B was added\ngene: ITM2B was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ITM2B were set to 10391242; 10781099; 33814452\nPhenotypes for gene: ITM2B were set to Cerebellar ataxia, cataract, deafness, and dementia or psychosis; Danish familial dementia",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2025-11-29T19:23:52.624836+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.93",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene IFRD1 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T19:23:52.394994+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.93",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFRD1 was added\ngene: IFRD1 was added to Ataxia. Sources: Expert Review Red,Expert Review,Expert Review Red,Literature\nMode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IFRD1 were set to 29362493; 28601596; 19409521\nPhenotypes for gene: IFRD1 were set to Spinocerebellar ataxia 18 MIM#607458",
"entity_name": "IFRD1",
"entity_type": "gene"
},
{
"created": "2025-11-29T19:22:57.543376+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.92",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GFAP from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T19:22:57.325115+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GFAP was added\ngene: GFAP was added to Ataxia. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GFAP were set to Alexander disease, 203450; Autosomal Dominant Ataxia; Alexander disease",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2025-11-29T19:18:01.880598+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.91",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GDAP2 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T19:18:01.234093+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.91",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GDAP2 was added\ngene: GDAP2 was added to Ataxia. Sources: Expert Review Green,Expert list,Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GDAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GDAP2 were set to Autosomal recessive spinocerebellar ataxia",
"entity_name": "GDAP2",
"entity_type": "gene"
},
{
"created": "2025-11-29T19:16:08.973756+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.90",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FAT2 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T19:16:08.755278+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FAT2 was added\ngene: FAT2 was added to Ataxia. Sources: Expert Review Green,Expert Review Green,Expert list,Expert list,Royal Melbourne Hospital,GeneReviews\nMode of inheritance for gene: FAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FAT2 were set to 29053796; 33884300\nPhenotypes for gene: FAT2 were set to Spinocerebellar ataxia 45, MIM#617769",
"entity_name": "FAT2",
"entity_type": "gene"
},
{
"created": "2025-11-29T18:16:27.768326+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.89",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ERCC4 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T18:16:27.589701+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.89",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC4 was added\ngene: ERCC4 was added to Ataxia. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC4 were set to 29403087; 28431612; 29892709\nPhenotypes for gene: ERCC4 were set to Cerebellar ataxia; Xeroderma pigmentosum, group F, MIM#\t278760",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-11-29T18:15:25.731035+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.88",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ELOVL5 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T18:15:25.548415+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.88",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ELOVL5 was added\ngene: ELOVL5 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ELOVL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ELOVL5 were set to 25065913\nPhenotypes for gene: ELOVL5 were set to Spinocerebellar ataxia 38, MIM#615957",
"entity_name": "ELOVL5",
"entity_type": "gene"
},
{
"created": "2025-11-29T18:15:00.220366+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.87",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ELOVL4 from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-29T18:14:59.943587+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.87",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ELOVL4 was added\ngene: ELOVL4 was added to Ataxia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190; Spinocerebellar ataxia 34, 133190",
"entity_name": "ELOVL4",
"entity_type": "gene"
}
]
}