{"count":220505,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=107","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=105","results":[{"created":"2025-11-30T20:34:51.543082+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.134","user_name":"Bryony Thompson","item_type":"entity","text":"STR: BEAN1_SCA31_TGGAA was added\nSTR: BEAN1_SCA31_TGGAA was added to Ataxia. Sources: Expert List\nMode of inheritance for STR: BEAN1_SCA31_TGGAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: BEAN1_SCA31_TGGAA were set to 19878914; 31755042\nPhenotypes for STR: BEAN1_SCA31_TGGAA were set to Spinocerebellar ataxia 31 MIM#117210\nReview for STR: BEAN1_SCA31_TGGAA was set to GREEN\nSTR: BEAN1_SCA31_TGGAA was marked as clinically relevant\nSTR: BEAN1_SCA31_TGGAA was marked as current diagnostic\nAdded comment: Complex repeat insertion (TGGAA)n, (TAGAA)n, (TAAAA)n, (TAAAATAGAA)n, TGGAA is present only in affected cases. Sequencing showed that the insertion consisted of a preceding TCAC sequence, and 3 pentanucleotide repeat components (TGGAA)n, (TAGAA)n, and (TAAAA)n in all patients tested.\r\n2.5-3.8 KB insertion is associated with disease and RNA toxicity expected to be mechanism of disease\r\nNormal and pathogenic cut-offs are based on animal model experiments (PMID: 31755042) \nSources: Expert List","entity_name":"BEAN1_SCA31_TGGAA","entity_type":"str"},{"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}]}