{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1853","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1851","results":[{"created":"2020-04-18T17:25:21.765810+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FA2H was added\ngene: FA2H was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FA2H were set to 20104589; 23745665; 19068277; 20853438; 22146942\nPhenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, MIM#\t612319\nReview for gene: FA2H was set to GREEN\nAdded comment: Complex form of HSP characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. In addition, some indviduals have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA). \nSources: Expert list","entity_name":"FA2H","entity_type":"gene"},{"created":"2020-04-18T17:22:57.710296+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HTT as Green List (high evidence)","entity_name":"HTT","entity_type":"gene"},{"created":"2020-04-18T17:22:57.697478+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: htt has been classified as Green List (High Evidence).","entity_name":"HTT","entity_type":"gene"},{"created":"2020-04-18T17:20:17.710328+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERLIN2 as ready","entity_name":"ERLIN2","entity_type":"gene"},{"created":"2020-04-18T17:20:17.696823+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: erlin2 has been classified as Green List (High Evidence).","entity_name":"ERLIN2","entity_type":"gene"},{"created":"2020-04-18T17:20:15.458428+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia 18, autosomal recessive, MIM#\t611225 to Spastic paraplegia 18, autosomal recessive, MIM#\t611225; Spastic paraplegia, dominant","entity_name":"ERLIN2","entity_type":"gene"},{"created":"2020-04-18T17:19:56.243264+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERLIN2 as Green List (high evidence)","entity_name":"ERLIN2","entity_type":"gene"},{"created":"2020-04-18T17:19:56.234951+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: erlin2 has been classified as Green List (High Evidence).","entity_name":"ERLIN2","entity_type":"gene"},{"created":"2020-04-18T17:19:48.518927+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERLIN2 was added\ngene: ERLIN2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ERLIN2 were set to 23109145; 21330303; 32094424; 29528531\nPhenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, MIM#\t611225\nReview for gene: ERLIN2 was set to GREEN\nAdded comment: B-allelic variants: early onset complex HSP, including ID and contractures. Mono-allelic variants reported with isolated HSP, variable age of onset including childhood. \nSources: Expert list","entity_name":"ERLIN2","entity_type":"gene"},{"created":"2020-04-18T17:09:21.630710+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELOVL1 as ready","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-04-18T17:09:21.621786+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elovl1 has been classified as Green List (High Evidence).","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-04-18T17:09:17.990539+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ELOVL1 as Green List (high evidence)","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-04-18T17:09:17.980926+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elovl1 has been classified as Green List (High Evidence).","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-04-18T17:09:09.922881+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ELOVL1 was added\ngene: ELOVL1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ELOVL1 were set to 29496980; 32123819; 30487246\nPhenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM#\t618527\nReview for gene: ELOVL1 was set to GREEN\nAdded comment: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity. Affected individuals have mild facial dysmorphism.\r\n\r\nSame two individuals reported in two publications. Both had the same variant, p.S165F, which arose de novo, suggesting the residue is important in pathogenesis. Mouse model. \nSources: Expert list","entity_name":"ELOVL1","entity_type":"gene"},{"created":"2020-04-18T16:59:58.108989+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDHD2 as ready","entity_name":"DDHD2","entity_type":"gene"},{"created":"2020-04-18T16:59:58.100303+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddhd2 has been classified as Green List (High Evidence).","entity_name":"DDHD2","entity_type":"gene"},{"created":"2020-04-18T16:59:44.428661+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DDHD2 as Green List (high evidence)","entity_name":"DDHD2","entity_type":"gene"},{"created":"2020-04-18T16:59:44.419610+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddhd2 has been classified as Green List (High Evidence).","entity_name":"DDHD2","entity_type":"gene"},{"created":"2020-04-18T16:59:35.555310+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DDHD2 was added\ngene: DDHD2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDHD2 were set to 23486545; 24482476; 23176823\nPhenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, MIM#\t615033\nReview for gene: DDHD2 was set to GREEN\nAdded comment: At least 7 families reported. Affected individuals have delayed development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak. \nSources: Expert list","entity_name":"DDHD2","entity_type":"gene"},{"created":"2020-04-18T16:42:15.364287+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDHD1 as ready","entity_name":"DDHD1","entity_type":"gene"},{"created":"2020-04-18T16:42:15.355371+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddhd1 has been classified as Green List (High Evidence).","entity_name":"DDHD1","entity_type":"gene"},{"created":"2020-04-18T16:42:11.005558+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DDHD1 as Green List (high evidence)","entity_name":"DDHD1","entity_type":"gene"},{"created":"2020-04-18T16:42:10.992241+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddhd1 has been classified as Green List (High Evidence).","entity_name":"DDHD1","entity_type":"gene"},{"created":"2020-04-18T16:42:02.315706+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DDHD1 was added\ngene: DDHD1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDHD1 were set to 23176821\nPhenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive, MIM#\t609340\nReview for gene: DDHD1 was set to GREEN\nAdded comment: At least three unrelated families reported, childhood onset. \nSources: Expert list","entity_name":"DDHD1","entity_type":"gene"},{"created":"2020-04-18T16:38:29.048799+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP7B1 as ready","entity_name":"CYP7B1","entity_type":"gene"},{"created":"2020-04-18T16:38:29.040159+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp7b1 has been classified as Green List (High Evidence).","entity_name":"CYP7B1","entity_type":"gene"},{"created":"2020-04-18T16:38:24.714314+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYP7B1 as Green List (high evidence)","entity_name":"CYP7B1","entity_type":"gene"},{"created":"2020-04-18T16:38:24.706119+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp7b1 has been classified as Green List (High Evidence).","entity_name":"CYP7B1","entity_type":"gene"},{"created":"2020-04-18T16:38:03.433445+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP7B1 was added\ngene: CYP7B1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP7B1 were set to 19439420; 18252231\nPhenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive, MIM#\t270800\nReview for gene: CYP7B1 was set to GREEN\nAdded comment: Some individuals have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia. Onset highly variable, but childhood onset described in multiple individuals. \nSources: Expert list","entity_name":"CYP7B1","entity_type":"gene"},{"created":"2020-04-18T13:32:36.902643+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATN1 as Green List (high evidence)","entity_name":"ATN1","entity_type":"gene"},{"created":"2020-04-18T13:32:36.896057+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Note: trinucleotide repeat is the only cause of dementia for this gene. STRs are currently not detectable in WES/WGS technologies.","entity_name":"ATN1","entity_type":"gene"},{"created":"2020-04-18T13:32:36.863655+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atn1 has been classified as Green List (High Evidence).","entity_name":"ATN1","entity_type":"gene"},{"created":"2020-04-18T13:30:28.303108+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"ATN1","entity_type":"gene"},{"created":"2020-04-18T13:30:18.122523+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATN1 as Green List (high evidence)","entity_name":"ATN1","entity_type":"gene"},{"created":"2020-04-18T13:30:18.118383+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: STR only cause of dementia for this gene","entity_name":"ATN1","entity_type":"gene"},{"created":"2020-04-18T13:30:18.098171+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atn1 has been classified as Green List (High Evidence).","entity_name":"ATN1","entity_type":"gene"},{"created":"2020-04-18T13:28:34.395754+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATN1 was added\ngene: ATN1 was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATN1 were set to 7633415\nPhenotypes for gene: ATN1 were set to Dentatorubral-pallidoluysian atrophy MIM#125370\nMode of pathogenicity for gene: ATN1 was set to Other\nReview for gene: ATN1 was set to GREEN\nAdded comment: DRPLA contains various combinations of myoclonus, seizures, ataxia, choreoathetosis, and dementia, and is only caused by trinucleotide repeat expansion. Mean age of onset is 30 years of age. From OMIM: In 22 patients unstable expansion of a CAG unit in the DRPLA gene was identified. Each patient was a heterozygote with 1 allele in the normal range (8-25 repeat units) and a second expanded allele with the range of 54-68 repeat units. There were no overlaps in the number of CAG repeat units between control chromosomes and DRPLA chromosomes. \nSources: Expert list","entity_name":"ATN1","entity_type":"gene"},{"created":"2020-04-17T21:01:24.580696+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABHD12 as ready","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-04-17T21:01:24.572321+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abhd12 has been classified as Green List (High Evidence).","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-04-17T21:00:59.394682+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACO2 as ready","entity_name":"ACO2","entity_type":"gene"},{"created":"2020-04-17T21:00:59.385781+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aco2 has been classified as Green List (High Evidence).","entity_name":"ACO2","entity_type":"gene"},{"created":"2020-04-17T21:00:57.017886+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACO2 were changed from Infantile cerebellar-retinal degeneration to Infantile cerebellar-retinal degeneration, MIM#614559","entity_name":"ACO2","entity_type":"gene"},{"created":"2020-04-17T21:00:25.494504+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADGRG1 as ready","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2020-04-17T21:00:25.485755+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adgrg1 has been classified as Green List (High Evidence).","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2020-04-17T21:00:05.817116+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADPRHL2 as ready","entity_name":"ADPRHL2","entity_type":"gene"},{"created":"2020-04-17T21:00:05.803024+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adprhl2 has been classified as Green List (High Evidence).","entity_name":"ADPRHL2","entity_type":"gene"},{"created":"2020-04-17T20:59:31.947511+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AHI1 as ready","entity_name":"AHI1","entity_type":"gene"},{"created":"2020-04-17T20:59:31.938267+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ahi1 has been classified as Green List (High Evidence).","entity_name":"AHI1","entity_type":"gene"},{"created":"2020-04-17T20:59:29.349299+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AHI1 were set to ","entity_name":"AHI1","entity_type":"gene"},{"created":"2020-04-17T20:58:59.104311+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANO10 as ready","entity_name":"ANO10","entity_type":"gene"},{"created":"2020-04-17T20:58:59.095497+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ano10 has been classified as Green List (High Evidence).","entity_name":"ANO10","entity_type":"gene"},{"created":"2020-04-17T20:58:29.717427+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARMC9 as ready","entity_name":"ARMC9","entity_type":"gene"},{"created":"2020-04-17T20:58:29.703861+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: armc9 has been classified as Red List (Low Evidence).","entity_name":"ARMC9","entity_type":"gene"},{"created":"2020-04-17T20:58:26.195844+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30 to Joubert syndrome 30, MIM#617622","entity_name":"ARMC9","entity_type":"gene"},{"created":"2020-04-17T20:58:07.996820+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARMC9 as Red List (low evidence)","entity_name":"ARMC9","entity_type":"gene"},{"created":"2020-04-17T20:58:07.982654+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: armc9 has been classified as Red List (Low Evidence).","entity_name":"ARMC9","entity_type":"gene"},{"created":"2020-04-17T20:57:41.443459+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARSA as ready","entity_name":"ARSA","entity_type":"gene"},{"created":"2020-04-17T20:57:41.430094+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arsa has been classified as Green List (High Evidence).","entity_name":"ARSA","entity_type":"gene"},{"created":"2020-04-17T20:57:17.589378+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP8A2 as ready","entity_name":"ATP8A2","entity_type":"gene"},{"created":"2020-04-17T20:57:17.580202+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp8a2 has been classified as Green List (High Evidence).","entity_name":"ATP8A2","entity_type":"gene"},{"created":"2020-04-17T20:57:14.684119+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP8A2 were changed from Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268","entity_name":"ATP8A2","entity_type":"gene"},{"created":"2020-04-17T20:57:03.014530+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP8A2 were set to ","entity_name":"ATP8A2","entity_type":"gene"},{"created":"2020-04-17T20:56:35.321121+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CA8 as ready","entity_name":"CA8","entity_type":"gene"},{"created":"2020-04-17T20:56:35.312281+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ca8 has been classified as Green List (High Evidence).","entity_name":"CA8","entity_type":"gene"},{"created":"2020-04-17T20:56:32.327474+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CA8 were set to ","entity_name":"CA8","entity_type":"gene"},{"created":"2020-04-17T20:56:05.516605+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAMTA1 as ready","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-04-17T20:56:05.508013+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camta1 has been classified as Green List (High Evidence).","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-04-17T20:56:02.661913+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAMTA1 were set to ","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-04-17T20:55:30.972037+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK3 as ready","entity_name":"DOCK3","entity_type":"gene"},{"created":"2020-04-17T20:55:30.954824+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock3 has been classified as Green List (High Evidence).","entity_name":"DOCK3","entity_type":"gene"},{"created":"2020-04-17T20:55:05.183130+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IRF2BPL as ready","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-04-17T20:55:05.174634+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irf2bpl has been classified as Green List (High Evidence).","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-04-17T20:55:02.176223+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IRF2BPL were set to ","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-04-17T20:54:34.470860+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNA1 as ready","entity_name":"KCNA1","entity_type":"gene"},{"created":"2020-04-17T20:54:34.457308+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcna1 has been classified as Green List (High Evidence).","entity_name":"KCNA1","entity_type":"gene"},{"created":"2020-04-17T20:54:32.124415+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNA1 were set to ","entity_name":"KCNA1","entity_type":"gene"},{"created":"2020-04-17T20:54:23.733947+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KCNA1 was changed from  to Other","entity_name":"KCNA1","entity_type":"gene"},{"created":"2020-04-17T20:53:39.089421+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNA2 as ready","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-04-17T20:53:39.076189+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcna2 has been classified as Green List (High Evidence).","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-04-17T20:53:32.817398+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNA2 were set to ","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-04-17T20:52:58.638371+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA1 as ready","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-04-17T20:52:58.627414+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama1 has been classified as Green List (High Evidence).","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-04-17T20:52:35.834000+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPK8IP3 as ready","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-04-17T20:52:35.820417+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapk8ip3 has been classified as Green List (High Evidence).","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-04-17T20:52:32.921911+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies to Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-04-17T20:52:21.958061+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAPK8IP3 were set to ","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-04-17T20:51:47.921407+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MVK as ready","entity_name":"MVK","entity_type":"gene"},{"created":"2020-04-17T20:51:47.907938+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mvk has been classified as Green List (High Evidence).","entity_name":"MVK","entity_type":"gene"},{"created":"2020-04-17T20:51:40.030319+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MVK were set to ","entity_name":"MVK","entity_type":"gene"},{"created":"2020-04-17T20:51:13.193049+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NKX2-1 as ready","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2020-04-17T20:51:13.183879+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nkx2-1 has been classified as Green List (High Evidence).","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2020-04-17T20:51:07.398333+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NKX2-1 were set to ","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2020-04-17T20:50:29.176308+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPC2 as ready","entity_name":"NPC2","entity_type":"gene"},{"created":"2020-04-17T20:50:29.166689+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npc2 has been classified as Green List (High Evidence).","entity_name":"NPC2","entity_type":"gene"},{"created":"2020-04-17T20:50:07.914410+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPA1 as ready","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-04-17T20:50:07.905201+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opa1 has been classified as Green List (High Evidence).","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-04-17T20:50:01.045128+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OPA1 were set to ","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-04-17T20:49:28.989191+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPHN1 as ready","entity_name":"OPHN1","entity_type":"gene"},{"created":"2020-04-17T20:49:28.973062+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ophn1 has been classified as Green List (High Evidence).","entity_name":"OPHN1","entity_type":"gene"},{"created":"2020-04-17T20:48:55.678832+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLA2G6 as ready","entity_name":"PLA2G6","entity_type":"gene"}]}