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{
"count": 220434,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2033",
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{
"created": "2019-12-20T09:47:16.794350+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNAJC19 was added\ngene: DNAJC19 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198; dilated cardiomyopathy with ataxia (DCMA) syndrome; 3-methylglutaconic aciduria type V, 610198",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.741997+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DDHD2 was added\ngene: DDHD2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDHD2 were set to Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.; Spastic paraplegia 54",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.681605+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DARS2 was added\ngene: DARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.629268+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.577335+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CWF19L1 was added\ngene: CWF19L1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, 616127; Autosomal recessive spinocerebellar ataxia type 17, 616127",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.525535+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CSTB was added\ngene: CSTB was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSTB were set to Progressive myoclonic epilepsy 1A, 254800; Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.473370+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C5orf42 was added\ngene: C5orf42 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C5orf42 were set to Joubert syndrome 17",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.423056+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COX20 was added\ngene: COX20 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110; Mitochondrial complex IV deficiency",
"entity_name": "COX20",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.371657+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COQ8A was added\ngene: COQ8A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ8A were set to Primary coenzyme Q10 deficiency 4, 612016; Spinocerebellar Ataxia Type; Coenzyme Q10 deficiency, primary 4, 612016",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.321062+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLPP was added\ngene: CLPP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLPP were set to Perrault syndrome 3",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.267402+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLN6 was added\ngene: CLN6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN6 were set to Ceroid neuronal lipofuscinosis 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid neuronal lipofuscinosis kufs type, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.210882+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLN5 was added\ngene: CLN5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN5 were set to Ceroid lipofuscinosis neuronal 5",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.160911+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CEP41 was added\ngene: CEP41 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP41 were set to Joubert syndrome 15",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.110732+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CEP290 was added\ngene: CEP290 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP290 were set to Joubert syndrome 5",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.060058+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CC2D2A was added\ngene: CC2D2A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D2A were set to Joubert syndrome 9",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:16.010268+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CASK was added\ngene: CASK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CASK 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: CASK were set to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.958921+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CAPN1 was added\ngene: CAPN1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAPN1 were set to Spastic paraplegia type 76, 616907",
"entity_name": "CAPN1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.909204+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CAMTA1 was added\ngene: CAMTA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CAMTA1 were set to Cerebellarataxia, nonprogressive, with mental retardation, 614756; Cerebellar ataxia with mental retardation, 614756",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.857908+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CA8 was added\ngene: CA8 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227",
"entity_name": "CA8",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.807638+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP8A2 was added\ngene: ATP8A2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP8A2 were set to Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.756399+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP2B3 was added\ngene: ATP2B3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital\nMode of inheritance for gene: ATP2B3 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: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.700867+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATG5 was added\ngene: ATG5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: ATG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATG5 were set to 26812546\nPhenotypes for gene: ATG5 were set to ?Spinocerebellar ataxia, autosomal recessive 25",
"entity_name": "ATG5",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.651181+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATCAY was added\ngene: ATCAY was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATCAY were set to Cayman Ataxia, 601238; Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type",
"entity_name": "ATCAY",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.602852+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARSA was added\ngene: ARSA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSA were set to Metachromatic Leukodystrophy, 250100; Metachromatic leukodystrophy (#250100)",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.553421+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARMC9 was added\ngene: ARMC9 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARMC9 were set to Joubert syndrome 30",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.502846+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARL13B was added\ngene: ARL13B was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARL13B were set to Joubert syndrome 8",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.455108+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: APTX was added\ngene: APTX was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Ataxia with Oculomotor Apraxia; Early onset ataxia with oculomotor apraxia and hypoalbuminemia",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.406617+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALDH5A1 was added\ngene: ALDH5A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH5A1 were set to Succinate-semialdehyde dehydrogenase deficiency",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.358026+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AHI1 was added\ngene: AHI1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AHI1 were set to Joubert syndrome 3",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.309604+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADPRHL2 was added\ngene: ADPRHL2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170",
"entity_name": "ADPRHL2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.259577+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADGRG1 was added\ngene: ADGRG1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRG1 were set to Polymicrogyria, Frontoparietal, 606854; Polymicrogyria, perisylvian type, 615752",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.209362+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACO2 was added\ngene: ACO2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital\nMode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.153654+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCB7 was added\ngene: ABCB7 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ABCB7 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: ABCB7 were set to Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia; Anemia, sideroblast with ataxia, 300135",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2019-12-20T09:47:15.124614+11:00",
"panel_name": "Ataxia - paediatric_RMH",
"panel_id": 271,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Ataxia - paediatric_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-19T18:43:36.102205+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Haematuria_VCGS to Haematuria_VCGS_KidGen",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-19T18:42:34.795789+11:00",
"panel_name": "Haematuria_VCGS",
"panel_id": 39,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A2 as ready",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:42:34.788979+11:00",
"panel_name": "Haematuria_VCGS",
"panel_id": 39,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:42:31.272063+11:00",
"panel_name": "Haematuria_VCGS",
"panel_id": 39,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A2 were changed from to Brain small vessel disease 2, MIM#614483",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:41:50.080407+11:00",
"panel_name": "Haematuria_VCGS",
"panel_id": 39,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:41:23.424060+11:00",
"panel_name": "Haematuria_VCGS",
"panel_id": 39,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A2 as Red List (low evidence)",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:41:23.416299+11:00",
"panel_name": "Haematuria_VCGS",
"panel_id": 39,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:40:52.619755+11:00",
"panel_name": "Haematuria_VCGS",
"panel_id": 39,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: No association with nephropathy.; to: No association with nephropathy identified.",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:40:39.378220+11:00",
"panel_name": "Haematuria_VCGS",
"panel_id": 39,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 2, MIM#614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:33:21.946424+11:00",
"panel_name": "Haematuria_VCGS",
"panel_id": 39,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Alport syndrome extended_VCGS to Haematuria_VCGS",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-19T18:30:08.240852+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP55 as ready",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:30:08.233206+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Green List (High Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:30:01.232215+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP55 as Green List (high evidence)",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:30:01.224260+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Green List (High Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:29:38.196073+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP55 were set to 28295209; 28264986",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:29:19.730315+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP55 as Green List (high evidence)",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:29:19.679302+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Green List (High Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2019-12-19T18:27:48.413894+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP55 was added\ngene: CEP55 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review\nMode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP55 were set to 28295209; 28264986\nPhenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500\nReview for gene: CEP55 was set to GREEN\nAdded comment: Two unrelated families and animal model. \nSources: Expert Review",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:14:48.822905+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNT2 as ready",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:14:48.815789+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnt2 has been classified as Green List (High Evidence).",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:14:37.920214+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNT2 as Green List (high evidence)",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:14:37.913729+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnt2 has been classified as Green List (High Evidence).",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:14:20.154976+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNT2 was added\ngene: KCNT2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNT2 were set to 29069600; 29740868\nPhenotypes for gene: KCNT2 were set to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy\nReview for gene: KCNT2 was set to GREEN\nAdded comment: Reviewed by E Palmer: Ambrosino et al described 2 unrelated females with de novo variants in KCNT2. The first patient had the variant p.(Arg190His) had with West syndrome followed by Lennox-Gastaut syndrome , the second patient had the variant p.(Arg190Pro) and DEE with migrating focal seizures. Both variants were absent gnomad and had supportive in silico support for pathogenicity. In an electrophisological model both KCNT2 R190P and KCNT2 R190H increased maximal current density and shifted toward more negative membrane potential values the activation curve of KCNT2 channels, consistent with gain of function effects. PMID: 29740868.\r\n\r\nGururaj et al describe one male with de novo variant in KCNT2 p. (Phe240Leu) and early infantile epileptic encephalopathy. he variant was absent gnomad and supportive evidence of pathogenicity This variant was electrophysiologically modelled and revealed that the variant resulted in a 'change in function' demonstrating unusual altered selectivity in KNa channels.PMID: 29069600. \nSources: Literature",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:11:24.937925+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNT2 as ready",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:11:24.931236+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnt2 has been classified as Green List (High Evidence).",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:11:19.343449+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNT2 were changed from Developmental and epileptic encephalopathy to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:10:14.144242+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNT2 were set to (PMID: 29069600; 29740868)",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:09:52.393611+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNT2 as Green List (high evidence)",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:09:52.386299+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnt2 has been classified as Green List (High Evidence).",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:02:01.257456+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASNS as ready",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:02:01.250478+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asns has been classified as Green List (High Evidence).",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:01:49.298424+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASNS were changed from microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination to Asparagine synthetase deficiency, MIM#615574; microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:01:04.742065+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASNS were set to (PMID 24139043; 25227173; 29279279; 27469131; 28776279; 29375865; 26318253)",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:00:46.256593+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASNS as Green List (high evidence)",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2019-12-19T17:00:46.249625+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asns has been classified as Green List (High Evidence).",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:59:55.866637+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN4 as ready",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:59:55.857467+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn4 has been classified as Green List (High Evidence).",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:56:45.877587+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome, MIM#300114; intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:56:22.708941+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLCN4 were set to ",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:55:53.253714+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:54:33.492997+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN4 as ready",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:54:33.486492+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn4 has been classified as Green List (High Evidence).",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:54:24.342355+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome, MIM#300114; intellectual disability; epilepsy; autistic features; mood disorders; cerebral white matter changes; progressive appendicular spasticity",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:44:33.534940+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:44:18.888580+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLCN4 were set to ",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:43:08.726883+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZSWIM6 as ready",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:43:08.719854+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zswim6 has been classified as Green List (High Evidence).",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:43:04.157002+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZSWIM6 were set to (PMID: 29198722)",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:42:40.812507+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZSWIM6 as Green List (high evidence)",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:42:40.800982+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zswim6 has been classified as Green List (High Evidence).",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:30:17.456388+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1429",
"user_name": "elizabeth palmer",
"item_type": "entity",
"text": "reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 27550844); Phenotypes: intellectual disability, epilepsy, autistic features, mood disorders, cerebral white matter changes, progressive appendicular spasticity; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2019-12-19T16:25:23.280771+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.46",
"user_name": "elizabeth palmer",
"item_type": "entity",
"text": "reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 27550844); Phenotypes: intellectual disability, epilepsy, autistic features, mood disorders, cerebral white matter changes, progressive appendicular spasticity; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2019-12-19T14:59:40.382628+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.46",
"user_name": "elizabeth palmer",
"item_type": "entity",
"text": "gene: ASNS was added\ngene: ASNS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASNS were set to (PMID 24139043; 25227173; 29279279; 27469131; 28776279; 29375865; 26318253)\nPhenotypes for gene: ASNS were set to microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination\nPenetrance for gene: ASNS were set to Complete\nMode of pathogenicity for gene: ASNS was set to Other\nReview for gene: ASNS was set to GREEN\nAdded comment: Drug resistant seizures are common (12/17 reported cases) in Asparagine Synthetase deficiency. Reported variants are missense variants (homozygous or compound heterozygous) in the highly conserved asparagine synthetase domain and result in reduced enzymatic activity. \nSources: Literature",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2019-12-19T14:48:49.042841+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.15",
"user_name": "elizabeth palmer",
"item_type": "entity",
"text": "gene: ZSWIM6 was added\ngene: ZSWIM6 was added to Autism_VCGS. Sources: Literature\nMode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZSWIM6 were set to (PMID: 29198722)\nPhenotypes for gene: ZSWIM6 were set to NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA\nPenetrance for gene: ZSWIM6 were set to Complete\nMode of pathogenicity for gene: ZSWIM6 was set to Other\nReview for gene: ZSWIM6 was set to GREEN\nAdded comment: In our 2017 paper autistic features were prominent in the 7 published patients with a recurrent de novo variant in ZSWIM6 R913X. The mutant transcript escapes nonsense mediated decay and therefore likely produces a truncated protein. Palmer, E. E., Kumar, R., Gordon, C. T., Shaw, M., Hubert, L., Carroll, R., Rio, M., Murray, L., Leffler, M., Dudding-Byth, T., Oufadem, M., Lalani, S. R., and 31 others. A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations. Am. J. Hum. Genet. 101: 995-1005, 2017. [PubMed: 29198722] \nSources: Literature",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2019-12-19T14:45:49.050368+11:00",
"panel_name": "Renal cystic disease_SuperPanel_KidGen_VCGS",
"panel_id": 263,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added Panel Renal cystic disease_SuperPanel_KidGen_VCGS\nSet child panels to: Renal macrocystic disease_KidGen_VCGS; Renal ciliopathies and nephronophthisis_KidGen\nSet panel types to: Superpanel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-19T14:45:31.582070+11:00",
"panel_name": "Renal macrocystic disease_KidGen_VCGS",
"panel_id": 194,
"panel_version": "0.10",
"user_name": "chirag patel",
"item_type": "panel",
"text": "Panel name changed from Renal cystic disease_KidGen_VCGS to Renal macrocystic disease_KidGen_VCGS",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-19T14:45:18.421371+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1429",
"user_name": "elizabeth palmer",
"item_type": "entity",
"text": "reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: Other; Publications: (PMID:: 29198722); Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES, NEDMAGA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2019-12-19T14:40:53.615541+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.46",
"user_name": "elizabeth palmer",
"item_type": "entity",
"text": "reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2019-12-19T14:37:03.557717+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.46",
"user_name": "elizabeth palmer",
"item_type": "entity",
"text": "gene: KCNT2 was added\ngene: KCNT2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNT2 were set to (PMID: 29069600; 29740868)\nPhenotypes for gene: KCNT2 were set to Developmental and epileptic encephalopathy\nPenetrance for gene: KCNT2 were set to Complete\nMode of pathogenicity for gene: KCNT2 was set to Other\nReview for gene: KCNT2 was set to GREEN\nAdded comment: A.\t\r\n\r\n\r\nAmbrosino et al described 2 unrelated females with de novo variants in KCNT2. The first patient had the variant p.(Arg190His) had with West syndrome followed by Lennox-Gastaut syndrome , the second patient had the variant p.(Arg190Pro) and DEE with migrating focal seizures. Both variants were absent gnomad and had supportive in silico support for pathogenicity. In an electrophisological model both KCNT2 R190P and KCNT2 R190H increased maximal current density and shifted toward more negative membrane potential values the activation curve of KCNT2 channels, consistent with gain of function effects. PMID: 29740868.\r\n\r\nGururaj et al describe one male with de novo variant in KCNT2 p. (Phe240Leu) and early infantile epileptic encephalopathy. he variant was absent gnomad and supportive evidence of pathogenicity This variant was electrophysiologically modelled and revealed that the variant resulted in a 'change in function' demonstrating unusual altered selectivity in KNa channels.PMID: 29069600. \nSources: Literature",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2019-12-19T14:17:31.887529+11:00",
"panel_name": "Renal glomerular disease_SuperPanel_VCGS_KidGen",
"panel_id": 262,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-19T13:06:31.321230+11:00",
"panel_name": "Renal glomerular disease_SuperPanel_VCGS_KidGen",
"panel_id": 262,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added Panel Renal glomerular disease_SuperPanel_VCGS_KidGen\nSet child panels to: Nephrotic Syndrome_VCGS; Alport syndrome extended_VCGS\nSet panel types to: Superpanel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-19T12:30:03.608703+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A1 as ready",
"entity_name": "ATP1A1",
"entity_type": "gene"
},
{
"created": "2019-12-19T12:30:03.601594+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a1 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A1",
"entity_type": "gene"
},
{
"created": "2019-12-19T12:29:56.809599+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP1A1 as Green List (high evidence)",
"entity_name": "ATP1A1",
"entity_type": "gene"
},
{
"created": "2019-12-19T12:29:56.802518+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a1 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A1",
"entity_type": "gene"
},
{
"created": "2019-12-19T12:29:29.048686+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP1A1 was added\ngene: ATP1A1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP1A1 were set to 30388404\nPhenotypes for gene: ATP1A1 were set to Intellectual disability; seizures; hypomagnesaemia\nReview for gene: ATP1A1 was set to GREEN\nAdded comment: Three infants with de novo missense variants in this gene; seizures persisted despite correction of magnesium, intellectual disability is part of the phenotype. Note gene is also linked to CMT and possibly HSP. \nSources: Literature",
"entity_name": "ATP1A1",
"entity_type": "gene"
}
]
}