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{
"count": 220440,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2032",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2030",
"results": [
{
"created": "2019-12-20T09:51:15.982587+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Proteinuria_VCGS to Proteinuria_VCGS_KidGen",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-20T09:50:44.817185+11:00",
"panel_name": "Proteinuria_VCGS",
"panel_id": 144,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Nephrotic Syndrome_VCGS to Proteinuria_VCGS",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-20T09:47:23.187323+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZNF592 was added\ngene: ZNF592 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF592 were set to 20531441; 26123727\nPhenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5; Galloway-Mowat Syndrome 1, 251300",
"entity_name": "ZNF592",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:23.122865+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZNF423 was added\ngene: ZNF423 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ZNF423 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZNF423 were set to Nephronophthisis 14",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:23.059105+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WWOX was added\ngene: WWOX was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WWOX were set to Autosomal recessive spinocerebellar ataxia 12, 6143232; Early infantile epileptic encephalopathy 28, 616211; Autosomal recessive spinocerebellar ataxia 12, 614322",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.994482+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WFS1 was added\ngene: WFS1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WFS1 were set to Wolfram syndrome 1, 222300",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.928907+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR81 was added\ngene: WDR81 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR81 were set to Congenital hydrocephalus 3 with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.864401+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR73 was added\ngene: WDR73 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR73 were set to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature; Galloway-Mowat Syndrome 1, 251300",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.800862+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VLDLR was added\ngene: VLDLR was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VLDLR were set to Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050; Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.735699+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UCHL1 was added\ngene: UCHL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: UCHL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UCHL1 were set to Early onset ataxia and optic neuropathy; Autosomal recessive spastic paraplegia 79, 615491",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.672432+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UBR4 was added\ngene: UBR4 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: UBR4 were set to 23982692\nPhenotypes for gene: UBR4 were set to ?Episodic ataxia; Episodic ataxia type 8, 616055",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.606720+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UBA5 was added\ngene: UBA5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital\nMode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBA5 were set to 26872069; 29902590\nPhenotypes for gene: UBA5 were set to ?Autosomal recessive spinocerebellar ataxia 24, 617133; Early infantile epileptic encephalopathy 44, 617132",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.536783+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TWNK was added\ngene: TWNK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7, 271245; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Spinocerebellar Ataxia, Recessive",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.473199+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TUBB4A was added\ngene: TUBB4A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.411372+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TUBB2A was added\ngene: TUBB2A was added to Ataxia - paediatric_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber\nMode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB2A were set to 29547997\nPhenotypes for gene: TUBB2A were set to ?progressive spastic ataxia syndrome resembling sacsinopathy; Complex cortical dysplasia with other brain malformations 5, 615763",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.350772+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TUBA1A was added\ngene: TUBA1A was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBA1A were set to 21403111\nPhenotypes for gene: TUBA1A were set to Lissencephaly 3, 611603",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.284158+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTC19 was added\ngene: TTC19 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency nuclear type II, 615157; Mitochondrial complex III deficiency, nuclear type 2, 615157",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.218600+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSFM was added\ngene: TSFM was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital\nMode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.150943+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TPP1 was added\ngene: TPP1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPP1 were set to Autosomal recessive spinocerebellar ataxia 7, 609270; Neuronal ceroid lipofuscinosis, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270; Ceroid lipofuscinosis, neuronal, 2, 204500",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.088728+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM67 was added\ngene: TMEM67 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM67 were set to Joubert syndrome 6",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:22.026100+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM237 was added\ngene: TMEM237 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM237 were set to Joubert syndrome 14",
"entity_name": "TMEM237",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.962970+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM231 was added\ngene: TMEM231 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM231 were set to Joubert syndrome 20",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.901145+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM216 was added\ngene: TMEM216 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM216 were set to Joubert syndrome 2",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.839861+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM138 was added\ngene: TMEM138 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM138 were set to Joubert syndrome 16",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.768017+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM106B was added\ngene: TMEM106B was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TMEM106B were set to Hypomyelinating leukodystrophy 16, 617964",
"entity_name": "TMEM106B",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.705627+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TINF2 was added\ngene: TINF2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TINF2 were set to Autosomal dominant dyskeratosis congenita 3, 613990; Revesz syndrome, 268130",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.644575+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: THG1L was added\ngene: THG1L was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: THG1L were set to Cerebellar ataxia with developmental delay",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.580849+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TDP2 was added\ngene: TDP2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital\nMode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDP2 were set to 31410782; 30109272; 24658003\nPhenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.514946+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TCTN3 was added\ngene: TCTN3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN3 were set to Joubert syndrome 18",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.454118+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TCTN2 was added\ngene: TCTN2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN2 were set to Joubert syndrome 24",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.393044+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TCTN1 was added\ngene: TCTN1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN1 were set to Joubert syndrome 13",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.332920+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TBC1D23 was added\ngene: TBC1D23 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia type 11, 617695",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.270411+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SYNGAP1 was added\ngene: SYNGAP1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SYNGAP1 were set to Autosomal dominant mental retardation 5, 612621",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.208868+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SRD5A3 was added\ngene: SRD5A3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SRD5A3 were set to Kahrizi syndrome, 612713; Congenital disorder of glycosylation, type Iq, 612379; Congenital disorder of glycosylation type Iq, 612379",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.148942+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SQSTM1 was added\ngene: SQSTM1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SQSTM1 were set to Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:21.088450+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPR was added\ngene: SPR was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SPR were set to Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.955876+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SNX14 was added\ngene: SNX14 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia 20, 616354; Autosomal recessive spinocerebellar ataxia (#616354)",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.896216+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC9A6 was added\ngene: SLC9A6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type, 300243",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.837328+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC9A1 was added\ngene: SLC9A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr Syndrome",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.777338+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC52A2 was added\ngene: SLC52A2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A2 were set to Bwon-Vialetto-Van Laere syndrome 2, 614707",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.716861+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC2A1 was added\ngene: SLC2A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A1 were set to dystonia 9; GLUT1 deficiency syndrome 2, 612126; GLUT1 DEFICIENCY SYNDROME 1; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1, 606777; Dystonia 9, 601042; EPILEPSY, IDIOPATHIC GENERALIZED",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.657280+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A46 was added\ngene: SLC25A46 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A46 were set to Hereditary motor and sensory neuropathy type VIB, 616505",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.594919+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC1A3 was added\ngene: SLC1A3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6; Episodic ataxia type 6, 612656",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.535492+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC17A5 was added\ngene: SLC17A5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC17A5 were set to Salla disease; Sialic acid storage disease, severe infantile type",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.475344+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SIL1 was added\ngene: SIL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.415942+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCYL1 was added\ngene: SCYL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.357176+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCN8A was added\ngene: SCN8A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN8A were set to epilepsy; Benign familial infantile seizures 5, 617080; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.295115+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCN2A was added\ngene: SCN2A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SCN2A were set to Early infantile epileptic encephalopathy 11",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.235108+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCN1A was added\ngene: SCN1A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN1A were set to 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",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.171401+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RUBCN was added\ngene: RUBCN was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RUBCN were set to 20826435; 23728897\nPhenotypes for gene: RUBCN were set to ?Spinocerebellar ataxia, autosomal recessive 15",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.112427+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPGRIP1L was added\ngene: RPGRIP1L was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1L were set to Joubert syndrome 7",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:20.054158+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RORA was added\ngene: RORA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RORA were set to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060",
"entity_name": "RORA",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.957078+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTRH2 was added\ngene: PTRH2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTRH2 were set to Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.898702+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRICKLE1 was added\ngene: PRICKLE1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRICKLE1 were set to Progressive myoclonic epilepsy 1B, 612437; Progressive Myoclonus Epilepsy with Ataxia",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.838370+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLR3B was added\ngene: POLR3B was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital\nMode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.771126+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLR3A was added\ngene: POLR3A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR3A were set to Autosomal Recessive Ataxia; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.707673+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PNKP was added\ngene: PNKP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNKP were set to Microcephaly, seizures and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267; Ataxia with oculomotor apraxia 4 (#616267)",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.646592+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PMPCB was added\ngene: PMPCB was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, 617954",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.588082+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PMPCA was added\ngene: PMPCA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMPCA were set to Autosomal recessive spinocerebellar ataxia 2, 213200; Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.530142+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLA2G6 was added\ngene: PLA2G6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLA2G6 were set to Autosomal recessive Parkinson disease 14, 612953; Parkinson disease 14 (#612953); Infantile neuroaxonal dystrophy 1 (#256600); Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B (#610217); Neurodegeneration with brain iron accumulation 2B, 610217",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.470795+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PHYH was added\ngene: PHYH was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital\nMode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHYH were set to Refsum disease",
"entity_name": "PHYH",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.406187+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX7 was added\ngene: PEX7 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital\nMode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX7 were set to Refsum disease; Peroxisome biogenesis disorder 9B",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.343631+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PEX16 was added\ngene: PEX16 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX16 were set to Zellweger syndrome (614876); Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Peroxisome biogenesis disorder 8A, 614876; Peroxisome biogenesis disorder 8B, 614877",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.282019+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PCDH12 was added\ngene: PCDH12 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital\nMode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDH12 were set to 30459466\nPhenotypes for gene: PCDH12 were set to cerebellar ataxia, dystonia, retinopathy, and dysmorphism",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.210592+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PAX6 was added\ngene: PAX6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PAX6 were set to Aniridia, 106210; Aniridia, Cerebellar Ataxia, And Mental Retardation",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.147892+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OPHN1 was added\ngene: OPHN1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: OPHN1 were set to X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486; Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.089864+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OPA3 was added\ngene: OPA3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria type III, 258501; Costeff syndrome",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:19.033073+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OPA1 was added\ngene: OPA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: OPA1 were set to Behr syndrome, 210000; Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.976553+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OFD1 was added\ngene: OFD1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: OFD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OFD1 were set to Joubert syndrome 10",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.921077+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NPHP1 was added\ngene: NPHP1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP1 were set to Joubert syndrome 4",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.862712+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NPC2 was added\ngene: NPC2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC2 were set to Niemann-Pick disease type C2, 607625; Niemann-Pick disease type C2 (#607625)",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.807123+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NPC1 was added\ngene: NPC1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC1 were set to Niemann-Pick disease type C1, 257220; Niemann-Pick disease types C1 and D (#257220)",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.751518+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NKX6-2 was added\ngene: NKX6-2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NKX6-2 were set to Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560; Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.696436+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NKX2-1 was added\ngene: NKX2-1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NKX2-1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978; Chorea, hereditary benign 118700; Hereditary bening chorea, 118700",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.641337+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NHLRC1 was added\ngene: NHLRC1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHLRC1 were set to Progressive myoclonic epilepsy 2B, Lafora, 254780; Epilepsy, progressive myoclonic 2B (Lafora) 254780",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.585396+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MVK was added\ngene: MVK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MVK were set to Mevalonic aciduria 610377",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.529288+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTTP was added\ngene: MTTP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100; Abetalipoproteinemia",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.474925+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTPAP was added\ngene: MTPAP was added to Ataxia - paediatric_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber\nMode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTPAP were set to 20970105; 26319014; 25008111\nPhenotypes for gene: MTPAP were set to ?Ataxia, spastic, 4,; Autosomal recessive spastic ataxia 4, 613672",
"entity_name": "MTPAP",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.420942+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTCL1 was added\ngene: MTCL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: MTCL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTCL1 were set to 30548255; 28283581\nPhenotypes for gene: MTCL1 were set to slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.364750+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MRE11 was added\ngene: MRE11 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRE11 were set to Ataxia-Telangiectasia-Like Disorder; Ataxia-telangiectasia-like disorder 1, 604391",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.307911+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MMACHC was added\ngene: MMACHC was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria cblC type, 277400; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Ataxia and hypogonadism",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.247440+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MKS1 was added\ngene: MKS1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKS1 were set to Joubert syndrome 28",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.191720+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAPK8IP3 was added\ngene: MAPK8IP3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAPK8IP3 were set to Intellectual Disability with variable brain anomalies",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.137630+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LARS2 was added\ngene: LARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARS2 were set to Perrault syndrome 4",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:18.046569+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LAMA1 was added\ngene: LAMA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital\nMode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMA1 were set to 26932191\nPhenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome; Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.940221+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIF7 was added\ngene: KIF7 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIF7 were set to Koubert syndrome 12; Acrocallosal syndrome, Schinzel type",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.885289+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNQ2 was added\ngene: KCNQ2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNQ2 were set to Early infantile encephalopathy 7, 613720; Myokymia, 121200",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.830291+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNJ10 was added\ngene: KCNJ10 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ10 were set to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; SESAME syndrome, 612780",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.776299+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNA2 was added\ngene: KCNA2 was added to Ataxia - paediatric_RMH. 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 Early infantile encephalopathy 32, 616366",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.721825+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNA1 was added\ngene: KCNA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia; Episodic ataxia/myokymia syndrome, 160120; Episodic ataxia/myokymia syndrome",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.667899+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IRF2BPL was added\ngene: IRF2BPL was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.614131+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: INPP5E was added\ngene: INPP5E was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INPP5E were set to Joubert syndrome 1",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.555586+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HEXB was added\ngene: HEXB was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, 268800; Sandhoff disease, 268800",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.501384+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HEXA was added\ngene: HEXA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.447197+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HARS2 was added\ngene: HARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HARS2 were set to Perrault syndrome 2",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.390339+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GSS was added\ngene: GSS was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GSS were set to Gluthathione synthetase deficiency",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.328771+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRM1 was added\ngene: GRM1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13; Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.268776+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRID2 was added\ngene: GRID2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRID2 were set to Spinocerebellar ataxia, autosomal recessive 18, 616204",
"entity_name": "GRID2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.213442+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPAA1 was added\ngene: GPAA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:17.161597+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GOSR2 was added\ngene: GOSR2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018; Progressive myoclonic epilepsy 6, 614018",
"entity_name": "GOSR2",
"entity_type": "gene"
}
]
}