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{
"count": 220504,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=106",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=104",
"results": [
{
"created": "2025-12-02T15:36:35.120433+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTSL2 was added\ngene: ADAMTSL2 was added to Osteopetrosis. Sources: Literature\nMode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTSL2 were set to 36896612\nPhenotypes for gene: ADAMTSL2 were set to Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)\nReview for gene: ADAMTSL2 was set to GREEN\nAdded comment: 12 individuals reported with the severe end of the spectrum of ADAMTSL2-related skeletal dysplasia. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly. \nSources: Literature",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-12-02T14:39:41.080298+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.290",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: MED16 were changed from Neurodevelopmental disorder, MONDO:0700092, MED16-related to Guillouet-Gordon syndrome MIM#621220",
"entity_name": "MED16",
"entity_type": "gene"
},
{
"created": "2025-12-02T14:39:34.108792+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.473",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: MED16 were changed from Neurodevelopmental disorder, MONDO:0700092, MED16-related to Guillouet-Gordon syndrome MIM#621220",
"entity_name": "MED16",
"entity_type": "gene"
},
{
"created": "2025-12-02T14:38:56.308736+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.506",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: MED16 were changed from Neurodevelopmental disorder, MONDO:0700092, MED16-related to Guillouet-Gordon syndrome MIM#621220",
"entity_name": "MED16",
"entity_type": "gene"
},
{
"created": "2025-12-02T14:38:11.031392+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3731",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: MED16 were changed from complex neurodevelopmental disorder MONDO:0100038 to Guillouet-Gordon syndrome MIM#621220",
"entity_name": "MED16",
"entity_type": "gene"
},
{
"created": "2025-12-02T14:37:55.741601+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3730",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: MED16: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Guillouet-Gordon syndrome MIM#621220; Mode of inheritance: None",
"entity_name": "MED16",
"entity_type": "gene"
},
{
"created": "2025-12-02T11:17:12.993181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CSNK1G1: Changed rating: AMBER",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2025-12-02T11:17:03.813791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: CSNK1G1: Gene-disease relationship reviewed again. No new literature in last 5 years. Only one LP assertion in ClinVar by 3billion. LoF variants in population. Downgrade to Amber.",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2025-12-02T11:16:51.839346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSNK1G1 as Amber List (moderate evidence)",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2025-12-02T11:16:51.831929+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csnk1g1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2025-12-02T11:16:13.353203+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSNK1G1 as ready",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2025-12-02T11:16:13.349653+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Gene-disease relationship reviewed again. No new literature in last 5 years. Only one LP assertion in ClinVar by 3billion. LoF variants in population. Downgrade to Amber.",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2025-12-02T11:16:13.330315+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csnk1g1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2025-12-02T11:15:14.530271+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSNK1G1 as Amber List (moderate evidence)",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2025-12-02T11:15:14.523175+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csnk1g1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:51:52.675294+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FXN_FRDA_GAA as ready",
"entity_name": "FXN_FRDA_GAA",
"entity_type": "str"
},
{
"created": "2025-12-01T21:51:52.666132+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fxn_frda_gaa has been classified as Green List (High Evidence).",
"entity_name": "FXN_FRDA_GAA",
"entity_type": "str"
},
{
"created": "2025-12-01T21:51:49.358717+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FXN_FRDA_GAA as Green List (high evidence)",
"entity_name": "FXN_FRDA_GAA",
"entity_type": "str"
},
{
"created": "2025-12-01T21:51:49.351937+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fxn_frda_gaa has been classified as Green List (High Evidence).",
"entity_name": "FXN_FRDA_GAA",
"entity_type": "str"
},
{
"created": "2025-12-01T21:51:33.801099+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FXN_FRDA_GAA was added\nSTR: FXN_FRDA_GAA was added to Hereditary Spastic Paraplegia. Sources: Expert List\nMode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: FXN_FRDA_GAA were set to 20301458; 8596916\nPhenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300\nReview for STR: FXN_FRDA_GAA was set to GREEN\nSTR: FXN_FRDA_GAA was marked as clinically relevant\nSTR: FXN_FRDA_GAA was marked as current diagnostic\nAdded comment: NM_000144.4:c.165+1340GAA[X]\r\nLoss of function is the mechanism of disease\r\nNormal: 5-33 repeats\r\nMutable normal (premutation): 34-65 repeats\r\nBorderline: 44-66 repeats\r\nFull-penetrance: ≥66 repeats \nSources: Expert List",
"entity_name": "FXN_FRDA_GAA",
"entity_type": "str"
},
{
"created": "2025-12-01T21:46:08.306194+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.126",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ZFYVE27 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:46:08.124878+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZFYVE27 was added\ngene: ZFYVE27 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Red,Royal Melbourne Hospital\ndisputed tags were added to gene: ZFYVE27.\nMode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZFYVE27 were set to 29980238; 18606302; 16826525\nPhenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant, MIM#610244",
"entity_name": "ZFYVE27",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:45:20.679209+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.125",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene WASHC5 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:45:20.506843+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WASHC5 was added\ngene: WASHC5 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WASHC5 were set to 23455931; 17160902; 31814071; 26572744\nPhenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant, 603563; MONDO:0011339",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:44:34.713313+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.124",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SPG21 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:44:34.531102+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPG21 was added\ngene: SPG21 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital\nnew gene name tags were added to gene: SPG21.\nMode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPG21 were set to 14564668; 24451228; 28752238; 26978163\nPhenotypes for gene: SPG21 were set to Mast syndrome, 248900; Spastic Paraplegia, autosomal recessive",
"entity_name": "SPG21",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:43:49.313676+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.123",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SLC25A15 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:43:49.081556+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A15 was added\ngene: SLC25A15 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A15 were set to 16376511; 22465082; 28592010\nPhenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:42:58.507414+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.122",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PSEN1 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:42:58.300484+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PSEN1 was added\ngene: PSEN1 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSEN1 were set to 33274538\nPhenotypes for gene: PSEN1 were set to Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:41:52.328299+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.121",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene POLR3A from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:41:52.113531+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLR3A was added\ngene: POLR3A was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital\ndeep intronic tags were added to gene: POLR3A.\nMode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3A were set to 31637490\nPhenotypes for gene: POLR3A were set to Spastic ataxia",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:40:17.754919+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.120",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene LYST from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:40:17.579900+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Hereditary Spastic Paraplegia. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LYST were set to 26307451; 24521565\nPhenotypes for gene: LYST were set to spastic paraplegia; Spastic paraplegia; Chediak-Higashi syndrome, 214500",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:39:36.019008+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.119",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene KCNA2 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:39:35.823390+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNA2 was added\ngene: KCNA2 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNA2 were set to Hereditary spastic paraplegia and ataxia",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:38:53.780948+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.118",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GJA1 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:38:53.609705+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.118",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GJA1 was added\ngene: GJA1 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GJA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GJA1 were set to 31023660\nPhenotypes for gene: GJA1 were set to Hereditary spastic paraplegia; Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:38:02.216755+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.117",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GBE1 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:38:01.877875+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GBE1 was added\ngene: GBE1 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBE1 were set to 23034915\nPhenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form MIM#263570",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:37:16.035953+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GALC from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:37:15.851852+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GALC was added\ngene: GALC was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALC were set to 9272171; 11971051; 22959700; 26396125; 26915362; 28547031; 31185936; 32064984\nPhenotypes for gene: GALC were set to Krabbe disease MIM#245200",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:35:31.940131+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.115",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FXN from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:35:31.757423+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FXN was added\ngene: FXN was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital\nSV/CNV, STR tags were added to gene: FXN.\nMode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FXN were set to Friedreich ataxia, 229300",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:34:50.585925+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.114",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FBXO7 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:34:50.381806+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FBXO7 was added\ngene: FBXO7 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXO7 were set to 18513678; 19038853\nPhenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive MIM#260300",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:33:45.912334+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.113",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene DNM2 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:33:45.736124+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNM2 was added\ngene: DNM2 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DNM2 were set to 26517984\nPhenotypes for gene: DNM2 were set to Complicated hereditary spastic paraplegia",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:33:01.265743+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.112",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CYP27A1 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:33:00.985617+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700; MONDO:0008948; progressive lower extremity spasticity,often disproportionate to any degree of weakness",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:32:17.490677+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.111",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CPT1C from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:32:17.307116+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CPT1C was added\ngene: CPT1C was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CPT1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CPT1C were set to 25751282; 30911584; 30564185; 23973755\nPhenotypes for gene: CPT1C were set to Spastic paraplegia 73, autosomal dominant, MIM#616282; MONDO:0014568",
"entity_name": "CPT1C",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:30:14.204456+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3729",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene COQ7 from panel Hereditary Spastic Paraplegia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:29:18.288876+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COQ7 as Green List (high evidence)",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:29:18.281934+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: coq7 has been classified as Green List (High Evidence).",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:29:04.376244+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: 39080983, 38439593, 36854932; Phenotypes: primary coenzyme Q10 deficiency 8 MONDO:0014754; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2025-12-01T21:28:11.300620+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene COQ7 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T21:28:11.125361+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COQ7 was added\ngene: COQ7 was added to Hereditary Spastic Paraplegia. Sources: Literature\nMode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ7 were set to PMID: 33215859\nPhenotypes for gene: COQ7 were set to Hereditary spastic paraplegia, COQ7-related (MONDO#0019064)",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2025-12-01T20:59:56.036630+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.108",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CAPN1 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T20:59:55.850406+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CAPN1 was added\ngene: CAPN1 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Royal Melbourne Hospital,Expert list\nMode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAPN1 were set to 27153400\nPhenotypes for gene: CAPN1 were set to Spastic paraplegia 76 autosomal recessive, 616907; MONDO:0014827",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2025-12-01T20:59:18.302506+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.107",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene BICD2 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T20:59:18.110259+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BICD2 was added\ngene: BICD2 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: BICD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: BICD2 were set to 23664120; 25497877; 24482476\nPhenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2025-12-01T20:58:29.794964+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.106",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ATP2B4 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T20:58:29.606529+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP2B4 was added\ngene: ATP2B4 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: ATP2B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP2B4 were set to 29691679; 25798335; 25119969\nPhenotypes for gene: ATP2B4 were set to Pure and complicated hereditary spastic paraplegia",
"entity_name": "ATP2B4",
"entity_type": "gene"
},
{
"created": "2025-12-01T20:57:31.446765+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.105",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Hereditary Spastic Paraplegia - paediatric to Hereditary Spastic Paraplegia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T20:55:46.758853+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.104",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ATP13A2 from panel Hereditary Spastic Paraplegia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T20:55:46.591025+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP13A2 was added\ngene: ATP13A2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP13A2 were set to 27217339; 28137957\nPhenotypes for gene: ATP13A2 were set to Spastic paraplegia 78, autosomal recessive, 617225; Kufor-Rakeb syndrome, 606693 AR; complicated hereditary spastic paraplegia; Adult-onset lower-limb predominant spastic paraparesis",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:19:27.542191+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABI2 as ready",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:19:27.535232+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abi2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:19:15.843249+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABI2 as ready",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:19:15.833221+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abi2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:19:02.904800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABI2 as ready",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:19:02.894489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abi2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:18:52.010927+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABI2 as ready",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:18:51.997891+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abi2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:18:17.564516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3728",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ABI2 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T12:18:16.342247+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABI2 was added\ngene: ABI2 was added to Mendeliome. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABI2 were set to 40475134\nPhenotypes for gene: ABI2 were set to Neurodevelopmental disorder, MONDO:0700092, ABI2-related",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:18:01.967500+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ABI2 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T12:18:01.416462+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABI2 was added\ngene: ABI2 was added to Macrocephaly_Megalencephaly. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABI2 were set to 40475134\nPhenotypes for gene: ABI2 were set to Neurodevelopmental disorder, MONDO:0700092, ABI2-related",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:17:23.336702+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ABI2 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T12:17:23.033407+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABI2 was added\ngene: ABI2 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABI2 were set to 40475134\nPhenotypes for gene: ABI2 were set to Neurodevelopmental disorder, MONDO:0700092, ABI2-related",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:16:29.079940+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ABI2 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-01T12:16:28.895814+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABI2 was added\ngene: ABI2 was added to Callosome. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABI2 were set to 40475134\nPhenotypes for gene: ABI2 were set to Neurodevelopmental disorder, MONDO:0700092, ABI2-related",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:15:26.272760+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABI2 as ready",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:15:26.266153+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abi2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:15:20.322334+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABI2 as Amber List (moderate evidence)",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:15:20.315240+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abi2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:14:51.330429+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Preprint reporting eight unrelated individuals with severe NDD and de novo heterozygous ABI2 missense variants, including a recurrent p.Tyr491Cys in the highly conserved SH3 domain in six individuals. Key clinical features included moderate to severe motor delay, absent or delayed expressive language, intellectual disability, seizures, autistic traits, as well as macrocephaly, thinning of the corpus callosum, and white matter signal abnormalities. \nSources: Literature; to: Preprint reporting eight unrelated individuals with severe NDD and de novo heterozygous ABI2 missense variants, including a recurrent p.Tyr491Cys in the highly conserved SH3 domain in six individuals. Key clinical features included moderate to severe motor delay, absent or delayed expressive language, intellectual disability, seizures, autistic traits, as well as macrocephaly, thinning of the corpus callosum, and white matter signal abnormalities.\r\n\r\nAmber as still a preprint. Additional individual with recurrent variant identified internally.\r\n\r\nSources: Literature",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:14:12.066823+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABI2 was added\ngene: ABI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABI2 were set to 40475134\nPhenotypes for gene: ABI2 were set to Neurodevelopmental disorder, MONDO:0700092, ABI2-related\nReview for gene: ABI2 was set to AMBER\nAdded comment: Preprint reporting eight unrelated individuals with severe NDD and de novo heterozygous ABI2 missense variants, including a recurrent p.Tyr491Cys in the highly conserved SH3 domain in six individuals. Key clinical features included moderate to severe motor delay, absent or delayed expressive language, intellectual disability, seizures, autistic traits, as well as macrocephaly, thinning of the corpus callosum, and white matter signal abnormalities. \nSources: Literature",
"entity_name": "ABI2",
"entity_type": "gene"
},
{
"created": "2025-12-01T12:09:47.578190+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-30T20:44:23.654617+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.137",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: CACNA1A_SCA6_CAG as ready",
"entity_name": "CACNA1A_SCA6_CAG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:44:23.646654+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.137",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: cacna1a_sca6_cag has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A_SCA6_CAG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:44:20.324152+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.137",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: CACNA1A_SCA6_CAG as Green List (high evidence)",
"entity_name": "CACNA1A_SCA6_CAG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:44:20.314172+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.137",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: cacna1a_sca6_cag has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A_SCA6_CAG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:44:02.987756+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.136",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: CACNA1A_SCA6_CAG was added\nSTR: CACNA1A_SCA6_CAG was added to Ataxia. Sources: Expert List\nMode of inheritance for STR: CACNA1A_SCA6_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: CACNA1A_SCA6_CAG were set to 20301319; 29325606\nPhenotypes for STR: CACNA1A_SCA6_CAG were set to Spinocerebellar ataxia 6 MIM#183086; Episodic ataxia, type 2 MIM#108500\nReview for STR: CACNA1A_SCA6_CAG was set to GREEN\nSTR: CACNA1A_SCA6_CAG was marked as clinically relevant\nSTR: CACNA1A_SCA6_CAG was marked as current diagnostic\nAdded comment: NM_023035.2:c.6929_6931CAG[X]\r\nPolyQ expansion alters gene binding, impairs transcription factor function, and is toxic to cells expressing the α1ACT – effects consistent with a loss of function\r\nNormal: ≤18 repeats\r\nQuestionable significance: 19 CAG repeats\r\nFull penetrance: ≥20 repeats \nSources: Expert List",
"entity_name": "CACNA1A_SCA6_CAG",
"entity_type": "str"
},
{
"created": "2025-11-30T20:35:39.693442+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: BEAN1_SCA31_TGGAA as ready",
"entity_name": "BEAN1_SCA31_TGGAA",
"entity_type": "str"
},
{
"created": "2025-11-30T20:35:39.679933+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: bean1_sca31_tggaa has been classified as Green List (High Evidence).",
"entity_name": "BEAN1_SCA31_TGGAA",
"entity_type": "str"
},
{
"created": "2025-11-30T20:35:16.287150+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: BEAN1_SCA31_TGGAA as Green List (high evidence)",
"entity_name": "BEAN1_SCA31_TGGAA",
"entity_type": "str"
},
{
"created": "2025-11-30T20:35:16.276746+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: bean1_sca31_tggaa has been classified as Green List (High Evidence).",
"entity_name": "BEAN1_SCA31_TGGAA",
"entity_type": "str"
},
{
"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"
}
]
}