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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=248",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=246",
"results": [
{
"created": "2025-04-28T10:28:26.239356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2511",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NKAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type, MONDO:0026733, MIM#301039; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2025-04-28T09:28:36.957035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2511",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NDUFAF8: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh Syndrome MONDO:0009723; Mode of inheritance: None",
"entity_name": "NDUFAF8",
"entity_type": "gene"
},
{
"created": "2025-04-28T09:27:48.599203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2511",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NDUFAF7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Pathological Myopia MONDO:0001383; Mode of inheritance: None",
"entity_name": "NDUFAF7",
"entity_type": "gene"
},
{
"created": "2025-04-27T11:02:56.329012+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.256",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "THAP11_SCA_CAG was changed to THAP11_SCA51_CAG",
"entity_name": "THAP11_SCA51_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T11:00:58.535741+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: RAPGEF2_FAME7_TTTCA as ready",
"entity_name": "RAPGEF2_FAME7_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T11:00:58.529801+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: rapgef2_fame7_tttca has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAPGEF2_FAME7_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T11:00:35.298631+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: RAPGEF2_FAME7_TTTCA as Amber List (moderate evidence)",
"entity_name": "RAPGEF2_FAME7_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T11:00:35.288840+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: rapgef2_fame7_tttca has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAPGEF2_FAME7_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T10:59:52.564283+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.144",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: RAPGEF2_FAME7_TTTCA was added\nSTR: RAPGEF2_FAME7_TTTCA was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for STR: RAPGEF2_FAME7_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: RAPGEF2_FAME7_TTTCA were set to 29507423; 30351492; 33791773\nPhenotypes for STR: RAPGEF2_FAME7_TTTCA were set to Epilepsy, familial adult myoclonic, 7 MIM#618075\nReview for STR: RAPGEF2_FAME7_TTTCA was set to AMBER\nAdded comment: TTTCA expansion (without TTTTA expansion) identified in 3 affected individuals in a Chinese FAME family and another unrelated Japanese proband. Now 3 families reported.\r\nThe expanded (TTTTA)exp(TTTCA)exp(TTTTA)n allele was identified in a single case with myoclonic epilepsy. The repeat is similar to the SAMD12 FAME1 TTTTA/TTTCA pentanucleotide repeat. \nSources: Literature",
"entity_name": "RAPGEF2_FAME7_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T10:55:55.862317+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "FRA12A was changed to DIP2B_FRA12A_CGG",
"entity_name": "DIP2B_FRA12A_CGG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:55:32.145395+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2511",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "FRA12A was changed to DIP2B_FRA12A_CGG",
"entity_name": "DIP2B_FRA12A_CGG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:52:35.994915+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "SCA4_ZFHX3_GGC was changed to ZFHX3_SCA4_GGC",
"entity_name": "ZFHX3_SCA4_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:52:11.140074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2510",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "SCA4_ZFHX3_GGC was changed to ZFHX3_SCA4_GGC",
"entity_name": "ZFHX3_SCA4_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:51:13.794209+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: XYLT1_DBQD2_GGC as ready",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:51:13.787912+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: xylt1_dbqd2_ggc has been classified as Green List (High Evidence).",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:51:05.864107+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: XYLT1_DBQD2_GGC as Green List (high evidence)",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:51:05.857581+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: xylt1_dbqd2_ggc has been classified as Green List (High Evidence).",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:50:58.537799+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: XYLT1_DBQD2_GGC as ready",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:50:58.529952+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: xylt1_dbqd2_ggc has been classified as Green List (High Evidence).",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:50:52.920670+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: XYLT1_DBQD2_GGC as ready",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:50:52.913913+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: xylt1_dbqd2_ggc has been classified as Green List (High Evidence).",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:50:52.233466+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: XYLT1_DBQD2_GGC as Green List (high evidence)",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:50:52.226055+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: xylt1_dbqd2_ggc has been classified as Green List (High Evidence).",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:50:40.592338+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: XYLT1_DBQD2_GGC as Green List (high evidence)",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:50:40.582506+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: xylt1_dbqd2_ggc has been classified as Green List (High Evidence).",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:50:36.484299+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: XYLT1_DBQD2_GGC was added\nSTR: XYLT1_DBQD2_GGC was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for STR: XYLT1_DBQD2_GGC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: XYLT1_DBQD2_GGC were set to 30554721\nPhenotypes for STR: XYLT1_DBQD2_GGC were set to Desbuquois dysplasia 2 MIM#615777\nReview for STR: XYLT1_DBQD2_GGC was set to GREEN\nSTR: XYLT1_DBQD2_GGC was marked as clinically relevant\nSTR: XYLT1_DBQD2_GGC was marked as current diagnostic\nAdded comment: 10 patients from 8 families with homozygosity or compound heterozygosity for a (GGC)n repeat expansion in the XYLT1 promoter region, resulting in hypermethylation of XYLT1 exon 1. The GGC repeat region contains (GGC)n-AGC-(GGC)n-(GGA)n. Other loss of function variants in this gene also cause disease.\r\nNormal: 9-20 GGC repeats\r\nPathogenic: 120-800 repeats \nSources: Literature",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:50:23.340626+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: XYLT1_DBQD2_GGC was added\nSTR: XYLT1_DBQD2_GGC was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for STR: XYLT1_DBQD2_GGC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: XYLT1_DBQD2_GGC were set to 30554721\nPhenotypes for STR: XYLT1_DBQD2_GGC were set to Desbuquois dysplasia 2 MIM#615777\nReview for STR: XYLT1_DBQD2_GGC was set to GREEN\nSTR: XYLT1_DBQD2_GGC was marked as clinically relevant\nSTR: XYLT1_DBQD2_GGC was marked as current diagnostic\nAdded comment: 10 patients from 8 families with homozygosity or compound heterozygosity for a (GGC)n repeat expansion in the XYLT1 promoter region, resulting in hypermethylation of XYLT1 exon 1. The GGC repeat region contains (GGC)n-AGC-(GGC)n-(GGA)n. Other loss of function variants in this gene also cause disease.\r\nNormal: 9-20 GGC repeats\r\nPathogenic: 120-800 repeats \nSources: Literature",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:50:14.354260+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: XYLT1_DBQD2_GGC was added\nSTR: XYLT1_DBQD2_GGC was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for STR: XYLT1_DBQD2_GGC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: XYLT1_DBQD2_GGC were set to 30554721\nPhenotypes for STR: XYLT1_DBQD2_GGC were set to Desbuquois dysplasia 2 MIM#615777\nReview for STR: XYLT1_DBQD2_GGC was set to GREEN\nSTR: XYLT1_DBQD2_GGC was marked as clinically relevant\nSTR: XYLT1_DBQD2_GGC was marked as current diagnostic\nAdded comment: 10 patients from 8 families with homozygosity or compound heterozygosity for a (GGC)n repeat expansion in the XYLT1 promoter region, resulting in hypermethylation of XYLT1 exon 1. The GGC repeat region contains (GGC)n-AGC-(GGC)n-(GGA)n. Other loss of function variants in this gene also cause disease.\r\nNormal: 9-20 GGC repeats\r\nPathogenic: 120-800 repeats \nSources: Literature",
"entity_name": "XYLT1_DBQD2_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:28:08.204456+10:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "FECD3 was changed to TCF4_FECD3_CTG",
"entity_name": "TCF4_FECD3_CTG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:26:19.165854+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: TBP_SCA17_CAG as ready",
"entity_name": "TBP_SCA17_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:26:19.159809+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: tbp_sca17_cag has been classified as Green List (High Evidence).",
"entity_name": "TBP_SCA17_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:26:15.396751+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: TBP_SCA17_CAG as Green List (high evidence)",
"entity_name": "TBP_SCA17_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:26:15.390356+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: tbp_sca17_cag has been classified as Green List (High Evidence).",
"entity_name": "TBP_SCA17_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:25:50.606317+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: TBP_SCA17_CAG was added\nSTR: TBP_SCA17_CAG was added to Early-onset Parkinson disease. Sources: Expert list\nMode of inheritance for STR: TBP_SCA17_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: TBP_SCA17_CAG were set to 10484774; 20301611; 29325606; 27172828; 14638975; 11313753; 11914409\nPhenotypes for STR: TBP_SCA17_CAG were set to Spinocerebellar ataxia 17 MIM#607136\nReview for STR: TBP_SCA17_CAG was set to GREEN\nSTR: TBP_SCA17_CAG was marked as clinically relevant\nSTR: TBP_SCA17_CAG was marked as current diagnostic\nAdded comment: NM_003194.4:c.172_174[X]\r\nMechanism of disease expected to be gain of function\r\nNormal: ≤ 40 CAG/CAA repeats\r\nReduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms.\r\nFull-penetrance: ≥49 CAG/CAA repeats \nSources: Expert list",
"entity_name": "TBP_SCA17_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:23:31.106491+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.577",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "SCA17 was changed to TBP_SCA17_CAG",
"entity_name": "TBP_SCA17_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:23:03.020691+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2509",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "SCA17 was changed to TBP_SCA17_CAG",
"entity_name": "TBP_SCA17_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:22:52.285987+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "SCA17 was changed to TBP_SCA17_CAG",
"entity_name": "TBP_SCA17_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:20:51.316313+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "XDP was changed to TAF1_XDP_CCCTCT",
"entity_name": "TAF1_XDP_CCCTCT",
"entity_type": "str"
},
{
"created": "2025-04-27T10:18:56.139180+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "FAME2 was changed to STARD7_FAME2_ATTTC",
"entity_name": "STARD7_FAME2_ATTTC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:18:31.196716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2508",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "FAME2 was changed to STARD7_FAME2_ATTTC",
"entity_name": "STARD7_FAME2_ATTTC",
"entity_type": "str"
},
{
"created": "2025-04-27T10:16:42.579627+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.142",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SAMD12_FAME1_TTTCA as Green List (high evidence)",
"entity_name": "SAMD12_FAME1_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T10:16:42.573255+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.142",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: samd12_fame1_tttca has been classified as Green List (High Evidence).",
"entity_name": "SAMD12_FAME1_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T10:16:40.128578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2507",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "FAME1 was changed to SAMD12_FAME1_TTTCA",
"entity_name": "SAMD12_FAME1_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T10:16:13.518631+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "FAME1 was changed to SAMD12_FAME1_TTTCA",
"entity_name": "SAMD12_FAME1_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T10:14:46.221159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2506",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "OPDM4 was changed to RILPL1_OPDM4_CGG",
"entity_name": "RILPL1_OPDM4_CGG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:14:37.209787+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "OPDM4_RILPL1_CGG was changed to RILPL1_OPDM4_CGG",
"entity_name": "RILPL1_OPDM4_CGG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:11:19.451260+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: ATXN8OS_SCA8_CTG as ready",
"entity_name": "ATXN8OS_SCA8_CTG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:11:19.445080+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.32",
"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": "2025-04-27T10:11:14.642161+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.32",
"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": "2025-04-27T10:11:14.635752+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.32",
"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": "2025-04-27T10:10:50.916109+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ATXN8OS_SCA8_CTG was added\nSTR: ATXN8OS_SCA8_CTG was added to Early-onset Parkinson disease. Sources: Literature\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 24285970; 20301445; 10192387\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: Literature",
"entity_name": "ATXN8OS_SCA8_CTG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:08:23.935480+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: PPP2R2B_SCA12_CAG as ready",
"entity_name": "PPP2R2B_SCA12_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:08:23.929893+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: ppp2r2b_sca12_cag has been classified as Green List (High Evidence).",
"entity_name": "PPP2R2B_SCA12_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:07:55.486840+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: PPP2R2B_SCA12_CAG as Green List (high evidence)",
"entity_name": "PPP2R2B_SCA12_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:07:55.480981+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: ppp2r2b_sca12_cag has been classified as Green List (High Evidence).",
"entity_name": "PPP2R2B_SCA12_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:07:00.779400+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PPP2R2B_SCA12_CAG was added\nSTR: PPP2R2B_SCA12_CAG was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for STR: PPP2R2B_SCA12_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PPP2R2B_SCA12_CAG were set to 31286011; 27864267; 33811808; 10581021\nPhenotypes for STR: PPP2R2B_SCA12_CAG were set to Spinocerebellar ataxia 12 MIM#604326\nReview for STR: PPP2R2B_SCA12_CAG was set to GREEN\nSTR: PPP2R2B_SCA12_CAG was marked as clinically relevant\nSTR: PPP2R2B_SCA12_CAG was marked as current diagnostic\nAdded comment: NM_181675.3:c.27CAG[X]\r\nUncertain if CAG repeat encodes polyglutamine or instead affects the expression of specific splice variants of the encoded phosphatase\r\nNormal: ≤32 repeats\r\nUncertain: ~40-50 repeats have been reported, 43 repeats is the lowest reported in an established affected individual in a family with SCA12\r\nEstablished pathogenic (used as diagnostic cut-off): ≥51 repeats \nSources: Literature",
"entity_name": "PPP2R2B_SCA12_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:03:24.622326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2505",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "SCA12 was changed to PPP2R2B_SCA12_CAG",
"entity_name": "PPP2R2B_SCA12_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T10:01:52.954728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2504",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "MRUPAV_PLIN4 was changed to PLIN4_MRUPAV_33-mer",
"entity_name": "PLIN4_MRUPAV_33-mer",
"entity_type": "str"
},
{
"created": "2025-04-27T10:01:40.306481+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "MRUPAV was changed to PLIN4_MRUPAV_33-mer",
"entity_name": "PLIN4_MRUPAV_33-mer",
"entity_type": "str"
},
{
"created": "2025-04-27T09:59:12.929939+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: PABPN1_OPMD_GCN as ready",
"entity_name": "PABPN1_OPMD_GCN",
"entity_type": "str"
},
{
"created": "2025-04-27T09:59:12.922776+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: pabpn1_opmd_gcn has been classified as Green List (High Evidence).",
"entity_name": "PABPN1_OPMD_GCN",
"entity_type": "str"
},
{
"created": "2025-04-27T09:59:01.523314+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: PABPN1_OPMD_GCN as Green List (high evidence)",
"entity_name": "PABPN1_OPMD_GCN",
"entity_type": "str"
},
{
"created": "2025-04-27T09:59:01.516572+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: pabpn1_opmd_gcn has been classified as Green List (High Evidence).",
"entity_name": "PABPN1_OPMD_GCN",
"entity_type": "str"
},
{
"created": "2025-04-27T09:58:49.624446+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PABPN1_OPMD_GCN was added\nSTR: PABPN1_OPMD_GCN was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list\nMode of inheritance for STR: PABPN1_OPMD_GCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for STR: PABPN1_OPMD_GCN were set to 9462747; 20301305\nPhenotypes for STR: PABPN1_OPMD_GCN were set to Oculopharyngeal muscular dystrophy MIM#164300\nReview for STR: PABPN1_OPMD_GCN was set to GREEN\nSTR: PABPN1_OPMD_GCN was marked as clinically relevant\nSTR: PABPN1_OPMD_GCN was marked as current diagnostic\nAdded comment: NM_004643.3:c.4_6[X]\r\nExpected gain of function mechanism of disease\r\nNormal allele: (GCN)10 / Ala10\r\nAutosomal recessive: (GCN)11/Ala11\r\nAutosomal dominant: (GCN)12-17 \nSources: Expert list",
"entity_name": "PABPN1_OPMD_GCN",
"entity_type": "str"
},
{
"created": "2025-04-27T09:56:43.696430+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: PABPN1_OPMD_GCN as ready",
"entity_name": "PABPN1_OPMD_GCN",
"entity_type": "str"
},
{
"created": "2025-04-27T09:56:43.688065+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: pabpn1_opmd_gcn has been classified as Green List (High Evidence).",
"entity_name": "PABPN1_OPMD_GCN",
"entity_type": "str"
},
{
"created": "2025-04-27T09:56:06.398550+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NUTM2B-AS1_OPDM_CCG as ready",
"entity_name": "NUTM2B-AS1_OPDM_CCG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:56:06.392229+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: nutm2b-as1_opdm_ccg has been classified as Green List (High Evidence).",
"entity_name": "NUTM2B-AS1_OPDM_CCG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:56:01.282892+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NUTM2B-AS1_OPDM_CCG as Green List (high evidence)",
"entity_name": "NUTM2B-AS1_OPDM_CCG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:56:01.276178+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: nutm2b-as1_opdm_ccg has been classified as Green List (High Evidence).",
"entity_name": "NUTM2B-AS1_OPDM_CCG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:55:47.767194+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NUTM2B-AS1_OPDM_CCG was added\nSTR: NUTM2B-AS1_OPDM_CCG was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for STR: NUTM2B-AS1_OPDM_CCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NUTM2B-AS1_OPDM_CCG were set to 31332380; 37923380; 39308795; 38159879\nPhenotypes for STR: NUTM2B-AS1_OPDM_CCG were set to Oculopharyngodistal myopathy MONDO:0025193\nReview for STR: NUTM2B-AS1_OPDM_CCG was set to GREEN\nSTR: NUTM2B-AS1_OPDM_CCG was marked as clinically relevant\nAdded comment: At least 10 new families/probands have been reported with the repeat expansion. These individuals had an OPDM phenotype, mostly without white matter changes.\r\nNR_120611.1:n.192CCG[X]\r\n4 affected members of a single Japanese family with oculopharyngeal myopathy with leukoencephalopathy, with a heterozygous trinucleotide (CCG)n repeat expansion in the bidirectionally transcribed long noncoding RNA LOC642361 gene (in the CGG direction). RNA toxicity is postulated as the mechanism of disease. CGG repeats in controls ranged from 3 to 16. Repeats in affected family members ranged from 35-60. \nSources: Literature",
"entity_name": "NUTM2B-AS1_OPDM_CCG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:53:04.948233+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NOTCH2NLC_NIID_GGC as ready",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T09:53:04.940897+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: notch2nlc_niid_ggc has been classified as Green List (High Evidence).",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T09:52:57.967899+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "NIID was changed to NOTCH2NLC_NIID_GGC",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T09:52:46.248521+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "NIID was changed to NOTCH2NLC_NIID_GGC",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T09:52:11.170971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2503",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "NIID was changed to NOTCH2NLC_NIID_GGC",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T09:51:53.747784+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.576",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "NIID was changed to NOTCH2NLC_NIID_GGC",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T09:51:06.391032+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "NIID was changed to NOTCH2NLC_NIID_GGC",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T09:50:41.442807+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "NIID was changed to NOTCH2NLC_NIID_GGC",
"entity_name": "NOTCH2NLC_NIID_GGC",
"entity_type": "str"
},
{
"created": "2025-04-27T09:48:43.544924+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.575",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "SCA36 was changed to NOP56_SCA36_GGCCTG",
"entity_name": "NOP56_SCA36_GGCCTG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:48:25.477641+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2502",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "SCA36 was changed to NOP56_SCA36_GGCCTG",
"entity_name": "NOP56_SCA36_GGCCTG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:47:35.878906+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: MARCH6_FAME3_TTTCA as ready",
"entity_name": "MARCH6_FAME3_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T09:47:35.873130+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: march6_fame3_tttca has been classified as Green List (High Evidence).",
"entity_name": "MARCH6_FAME3_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T09:47:29.521580+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: MARCH6_FAME3_TTTCA as Green List (high evidence)",
"entity_name": "MARCH6_FAME3_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T09:47:29.512285+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: march6_fame3_tttca has been classified as Green List (High Evidence).",
"entity_name": "MARCH6_FAME3_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T09:47:05.438861+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: MARCH6_FAME3_TTTCA was added\nSTR: MARCH6_FAME3_TTTCA was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for STR: MARCH6_FAME3_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: MARCH6_FAME3_TTTCA were set to 31664039\nPhenotypes for STR: MARCH6_FAME3_TTTCA were set to Epilepsy, familial adult myoclonic, 3 MIM#613608\nReview for STR: MARCH6_FAME3_TTTCA was set to GREEN\nSTR: MARCH6_FAME3_TTTCA was marked as clinically relevant\nSTR: MARCH6_FAME3_TTTCA was marked as current diagnostic\nAdded comment: 4 unrelated European families with a heterozygous TTTCA(n) repeat expansion in intron 1 of the MARCHF6 gene. (TTTTA)n repeat is a polymorphic microsatellite with the number of TTTTA repeats ranging from 9 to 20; repeats containing TTTCA motifs were never observed in controls, indicating that the TTTCA repeats are the pathogenic part of the expansion similar to other FAMEs. Patient cells did not show any difference in MARCHF6 RNA or protein expression compared to controls, and there was no difference in the level of intron 1-containing RNA, thus excluding a massive accumulation of abnormally spliced mRNA carrying the expansion in these cells. \nSources: Literature",
"entity_name": "MARCH6_FAME3_TTTCA",
"entity_type": "str"
},
{
"created": "2025-04-27T09:43:26.353771+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "OPDM1 was changed to LRP12_OPDM1_CGG",
"entity_name": "LRP12_OPDM1_CGG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:43:08.992808+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "LRP12-ALS_CGG was changed to LRP12_ALS_CGG",
"entity_name": "LRP12_ALS_CGG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:42:13.527324+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: JPH3_HDL2_CTG as ready",
"entity_name": "JPH3_HDL2_CTG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:42:13.521008+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: jph3_hdl2_ctg has been classified as Green List (High Evidence).",
"entity_name": "JPH3_HDL2_CTG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:42:09.873121+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: JPH3_HDL2_CTG as Green List (high evidence)",
"entity_name": "JPH3_HDL2_CTG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:42:09.866256+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: jph3_hdl2_ctg has been classified as Green List (High Evidence).",
"entity_name": "JPH3_HDL2_CTG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:41:46.374402+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: NM_001271604.2:c.431CTG[X] or NM_020655.4:c.382+760CTG[X]\r\nIn an alternatively spliced exon, the repeat can be transcribed in both directions, leading to CUG (more common) or CAG (less common) repeat-containing transcripts. While a dominant RNA toxic effect may occur, the repeat expansion also reduces levels of the Junctophilin-3 protein\r\nNormal: ≤28 repeats\r\nQuestionable significance: 29 \nSources: Literature; to: NM_001271604.2:c.431CTG[X] or NM_020655.4:c.382+760CTG[X]\r\nIn an alternatively spliced exon, the repeat can be transcribed in both directions, leading to CUG (more common) or CAG (less common) repeat-containing transcripts. While a dominant RNA toxic effect may occur, the repeat expansion also reduces levels of the Junctophilin-3 protein\r\nNormal: ≤28 repeats\r\nQuestionable significance: 29-39 repeats, mutable normal or reduced penetrance included\r\nFull penetrance: ≥40 repeats",
"entity_name": "JPH3_HDL2_CTG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:41:36.906110+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: JPH3_HDL2_CTG was added\nSTR: JPH3_HDL2_CTG was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for STR: JPH3_HDL2_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: JPH3_HDL2_CTG were set to 11558794; 20301701\nPhenotypes for STR: JPH3_HDL2_CTG were set to Huntington disease-like 2 MIM#606438\nReview for STR: JPH3_HDL2_CTG was set to GREEN\nSTR: JPH3_HDL2_CTG was marked as clinically relevant\nSTR: JPH3_HDL2_CTG was marked as current diagnostic\nAdded comment: NM_001271604.2:c.431CTG[X] or NM_020655.4:c.382+760CTG[X]\r\nIn an alternatively spliced exon, the repeat can be transcribed in both directions, leading to CUG (more common) or CAG (less common) repeat-containing transcripts. While a dominant RNA toxic effect may occur, the repeat expansion also reduces levels of the Junctophilin-3 protein\r\nNormal: ≤28 repeats\r\nQuestionable significance: 29 \nSources: Literature",
"entity_name": "JPH3_HDL2_CTG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:39:21.130237+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "HDL2 was changed to JPH3_HDL2_CTG",
"entity_name": "JPH3_HDL2_CTG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:38:43.362257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2501",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "HDL2 was changed to JPH3_HDL2_CTG",
"entity_name": "JPH3_HDL2_CTG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:33:49.115710+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "HD was changed to HTT_HD_CAG",
"entity_name": "HTT_HD_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:33:17.542075+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.316",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "HD was changed to HTT_HD_CAG",
"entity_name": "HTT_HD_CAG",
"entity_type": "str"
},
{
"created": "2025-04-27T09:27:30.099859+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: GLS_GDPAG_GCA as ready",
"entity_name": "GLS_GDPAG_GCA",
"entity_type": "str"
},
{
"created": "2025-04-27T09:27:30.093563+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: gls_gdpag_gca has been classified as Green List (High Evidence).",
"entity_name": "GLS_GDPAG_GCA",
"entity_type": "str"
}
]
}