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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1857",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1855",
"results": [
{
"created": "2020-04-17T12:46:27.167811+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTRH2 were set to ",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:46:14.252180+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 25574476, 31057140, 27129381; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:44:05.419896+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARS2 as ready",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:44:05.411261+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rars2 has been classified as Red List (Low Evidence).",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:44:01.247467+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RARS2 were set to 31429931",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:43:41.174141+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: None; Publications: 17847012, 25809939, 20635367; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM# 611523; Mode of inheritance: None",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:39:04.264230+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPGRIP1L as ready",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:39:04.250932+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgrip1l has been classified as Green List (High Evidence).",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:39:01.326950+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPGRIP1L were changed from Joubert syndrome 7 to Joubert syndrome 7, MIM#\t611560",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:38:48.521559+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 7, MIM# 611560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:37:23.284132+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN1A as ready",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:37:23.275366+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1a has been classified as Green List (High Evidence).",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:37:20.198958+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN1A were changed from Familial hemiplegic migraine 3, 609634; familial hemiplegic migraine 3; Familial febrile seziures 3A, 604403; several epilepsy, convulsion and migraine disorders.; Generalised epilepsy with febrile seizures type 2, 604403; Epileptic encephalopathy 6, 607208; Dravet syndrome to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:36:36.473381+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:34:43.800264+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN2A as ready",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:34:43.791535+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn2a has been classified as Green List (High Evidence).",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:34:41.471901+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN2A were changed from Early infantile epileptic encephalopathy 11 to Early infantile epileptic encephalopathy 11, MIM# 613721",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:34:20.501621+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:31:44.936378+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCYL1 as ready",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:31:44.923218+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scyl1 has been classified as Green List (High Evidence).",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:31:29.667512+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCYL1 were set to ",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:31:15.507974+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29419818, 17571074, 26581903, 30531813; Phenotypes: Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:22:05.249050+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CTBP1 as ready",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:22:05.235809+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ctbp1 has been classified as Green List (High Evidence).",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:21:57.640872+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CTBP1 as Green List (high evidence)",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:21:57.626391+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ctbp1 has been classified as Green List (High Evidence).",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-04-17T12:21:47.372605+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTBP1 was added\ngene: CTBP1 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTBP1 were set to 27094857; 28955726; 31041561\nPhenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915\nReview for gene: CTBP1 was set to GREEN\nAdded comment: Paediatric onset of ataxia and >3 cases reported. \nSources: Expert list",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:59:19.165304+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:59:15.474941+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:58:14.057454+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: UBR4 as Amber List (moderate evidence)",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:58:14.043838+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ubr4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:51:23.286196+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TUBB2A were set to 29547997",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:51:03.456409+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TUBB2A as Red List (low evidence)",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:51:03.447485+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tubb2a has been classified as Red List (Low Evidence).",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:50:52.140686+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TUBB2A: Rating: RED; Mode of pathogenicity: None; Publications: 29547997, 32203252; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5 MIM#615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:45:58.959925+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TUBA1A as ready",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:45:58.944810+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tuba1a has been classified as Red List (Low Evidence).",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:45:47.967859+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TUBA1A: Rating: RED; Mode of pathogenicity: None; Publications: 21403111; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:39:56.381927+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-17T11:37:46.196894+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SETX as ready",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:37:46.187944+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: setx has been classified as Green List (High Evidence).",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:37:39.585125+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SETX as Green List (high evidence)",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:37:39.571841+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: setx has been classified as Green List (High Evidence).",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:37:29.916635+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SETX was added\ngene: SETX was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SETX were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002\nReview for gene: SETX was set to GREEN\nAdded comment: Onset usually in mid-teens, average 15 years (range 2 to 20 years). \nSources: Expert list",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:27:31.307375+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SACS as ready",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:27:31.298516+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sacs has been classified as Green List (High Evidence).",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:27:27.735115+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SACS as Green List (high evidence)",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:27:27.726365+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sacs has been classified as Green List (High Evidence).",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:27:17.715667+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SACS was added\ngene: SACS was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type MIM#270550\nReview for gene: SACS was set to GREEN\nAdded comment: Onset usually in infancy or early childhood. \nSources: Expert list",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:25:37.433416+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RNF216 as ready",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:25:37.424261+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnf216 has been classified as Green List (High Evidence).",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:25:33.961392+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RNF216 as Green List (high evidence)",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:25:33.947582+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnf216 has been classified as Green List (High Evidence).",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:25:24.724819+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNF216 was added\ngene: RNF216 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840\nReview for gene: RNF216 was set to GREEN\nAdded comment: Onset of ataxia is variable and can be from early childhood (ORPHA:1173). \nSources: Expert list",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:18:45.671930+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRRT2 as Green List (high evidence)",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:18:45.663095+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prrt2 has been classified as Green List (High Evidence).",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-04-17T11:18:35.752102+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRRT2 was added\ngene: PRRT2 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PRRT2 were set to 26598494; 31193310; 30501978; 30713971\nPhenotypes for gene: PRRT2 were set to Episodic kinesigenic dyskinesia 1 MIM#128200; Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066; Seizures, benign familial infantile, 2 MIM#605751\nReview for gene: PRRT2 was set to GREEN\nAdded comment: Ataxia can be a prominent feature of the condition, particularly in biallelic cases. Onset of ataxia is variable, from paediatric to adult. \nSources: Expert list",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:55:45.486431+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC17A5 as ready",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:55:45.473617+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc17a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:55:43.022332+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC17A5 were changed from Salla disease; Sialic acid storage disease, severe infantile type to Salla disease; Sialic acid storage disease, severe infantile type, MIM# 269920",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:55:25.390479+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialic acid storage disorder, infantile, MIM# 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:53:35.699770+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A46 as ready",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:53:35.691062+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a46 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:53:26.159818+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:51:18.664137+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:51:18.651001+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:51:12.349453+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POLG as Green List (high evidence)",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:51:12.336242+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:51:10.712990+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC52A2 as ready",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:51:10.703884+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc52a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:51:03.346165+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450\nReview for gene: POLG was set to GREEN\nAdded comment: Variable age of onset, including infancy and early childhood. \nSources: Expert list",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:51:01.123589+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:48:21.848885+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A1 as ready",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:48:21.839568+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:48:17.521868+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC9A1 as Amber List (moderate evidence)",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:48:17.512362+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:47:44.616435+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A1 was added\ngene: SLC9A1 was added to Deafness. Sources: Expert list\nMode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC9A1 were set to 25205112; 30018422; 25760855\nPhenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr syndrome, MIM# 616291\nReview for gene: SLC9A1 was set to AMBER\nAdded comment: Two families with bi-allelic variants in this gene reported and combination of deafness and ataxia. \nSources: Expert list",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:45:38.299422+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PNPLA6 as ready",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:45:38.290728+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pnpla6 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:45:34.210750+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PNPLA6 as Green List (high evidence)",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:45:34.197431+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pnpla6 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:45:23.182726+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.144",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PNPLA6 was added\ngene: PNPLA6 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome MIM#215470; Laurence-Moon syndrome MIM#245800; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39, autosomal recessive MIM#612020\nReview for gene: PNPLA6 was set to GREEN\nAdded comment: Variable age of onset for neurological features (including ataxia) from childhood to adulthood. \nSources: Expert list",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:37:29.692055+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970105, 26319014, 25008111; Phenotypes: Spastic ataxia 4, autosomal recessive MIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:29:34.771167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A1 as ready",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:29:34.757995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:29:25.772560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC9A1 as Amber List (moderate evidence)",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:29:25.763729+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:29:07.057768+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A1 was added\ngene: SLC9A1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC9A1 were set to 25205112; 30018422; 25760855\nPhenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr syndrome, MIM# 616291\nReview for gene: SLC9A1 was set to AMBER\nAdded comment: Two families with bi-allelic variants in this gene reported and combination of deafness and ataxia. \nSources: Expert list",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:27:33.721157+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A1 as ready",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:27:33.712223+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:27:30.687013+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A1 were changed from Lichtenstein-Knorr Syndrome to Lichtenstein-Knorr Syndrome, MIM#\t616291",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:27:22.224693+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC9A1 were set to ",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:27:12.691607+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC9A1 as Amber List (moderate evidence)",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:27:12.679354+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:27:02.848767+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC9A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25205112, 30018422, 25760855; Phenotypes: Lichtenstein-Knorr syndrome, MIM# 616291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:22:30.388821+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPR as ready",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:22:30.375267+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spr has been classified as Green List (High Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:22:16.390791+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:18:35.033730+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTBN2 as ready",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2020-04-17T10:18:35.020191+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn2 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN2",
"entity_type": "gene"
}
]
}