{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1852","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1850","results":[{"created":"2020-04-19T12:18:27.211122+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.363","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ATP6 as ready","entity_name":"MT-ATP6","entity_type":"gene"},{"created":"2020-04-19T12:18:27.202308+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.363","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-atp6 has been classified as Green List (High Evidence).","entity_name":"MT-ATP6","entity_type":"gene"},{"created":"2020-04-19T12:18:20.248499+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.363","user_name":"Zornitza Stark","item_type":"entity","text":"Tag mtDNA tag was added to gene: MT-ATP6.","entity_name":"MT-ATP6","entity_type":"gene"},{"created":"2020-04-19T12:18:13.257792+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.363","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MT-ATP6 as Green List (high evidence)","entity_name":"MT-ATP6","entity_type":"gene"},{"created":"2020-04-19T12:18:13.248709+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.363","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-atp6 has been classified as Green List (High Evidence).","entity_name":"MT-ATP6","entity_type":"gene"},{"created":"2020-04-19T12:17:44.976305+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ATP6 was added\ngene: MT-ATP6 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL\nPhenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency\nReview for gene: MT-ATP6 was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"MT-ATP6","entity_type":"gene"},{"created":"2020-04-18T18:46:02.942211+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACOX1 as ready","entity_name":"ACOX1","entity_type":"gene"},{"created":"2020-04-18T18:46:02.932944+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acox1 has been classified as Red List (Low Evidence).","entity_name":"ACOX1","entity_type":"gene"},{"created":"2020-04-18T18:46:00.266244+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACOX1 were set to ","entity_name":"ACOX1","entity_type":"gene"},{"created":"2020-04-18T18:45:31.256262+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARSI as ready","entity_name":"ARSI","entity_type":"gene"},{"created":"2020-04-18T18:45:31.242932+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arsi has been classified as Red List (Low Evidence).","entity_name":"ARSI","entity_type":"gene"},{"created":"2020-04-18T18:45:14.577587+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCT5 as ready","entity_name":"CCT5","entity_type":"gene"},{"created":"2020-04-18T18:45:14.565035+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cct5 has been classified as Red List (Low Evidence).","entity_name":"CCT5","entity_type":"gene"},{"created":"2020-04-18T18:44:44.173591+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLC2 as ready","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-18T18:44:44.165002+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klc2 has been classified as Red List (Low Evidence).","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-18T18:42:18.429671+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFYVE26 as ready","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-04-18T18:42:18.421126+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfyve26 has been classified as Green List (High Evidence).","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-04-18T18:42:14.422580+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZFYVE26 as Green List (high evidence)","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-04-18T18:42:14.409659+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfyve26 has been classified as Green List (High Evidence).","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-04-18T18:42:05.685583+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, MIM#\t270700\nReview for gene: ZFYVE26 was set to GREEN\nAdded comment: Complex form of spastic paraplegia, associated with other neurologic dysfunction, including variable intellectual disability, hearing and visual defects, and thin corpus callosum. Late childhood onset reported. \nSources: Expert list","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-04-18T18:38:10.171770+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VAMP1 as ready","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-04-18T18:38:10.158054+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vamp1 has been classified as Green List (High Evidence).","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-04-18T18:38:06.898123+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VAMP1 as Green List (high evidence)","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-04-18T18:38:06.885083+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vamp1 has been classified as Green List (High Evidence).","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-04-18T18:37:58.737344+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VAMP1 was added\ngene: VAMP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, MIM#\t108600\nReview for gene: VAMP1 was set to GREEN\nAdded comment: Spasticity is a prominent feature of this condition. \nSources: Expert list","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-04-18T18:36:00.770137+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPG7 as ready","entity_name":"SPG7","entity_type":"gene"},{"created":"2020-04-18T18:36:00.760886+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spg7 has been classified as Green List (High Evidence).","entity_name":"SPG7","entity_type":"gene"},{"created":"2020-04-18T18:35:57.319587+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPG7 as Green List (high evidence)","entity_name":"SPG7","entity_type":"gene"},{"created":"2020-04-18T18:35:57.305970+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spg7 has been classified as Green List (High Evidence).","entity_name":"SPG7","entity_type":"gene"},{"created":"2020-04-18T18:35:50.024468+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPG7 was added\ngene: SPG7 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPG7 were set to 22571692\nPhenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, MIM#\t607259\nReview for gene: SPG7 was set to GREEN\nAdded comment: Typical onset is in adulthood, but some individuals with late childhood onset reported. Most affected individuals have had bi-allelic variants; some reports of mono-allelic variants. \nSources: Expert list","entity_name":"SPG7","entity_type":"gene"},{"created":"2020-04-18T18:29:33.719006+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPG11 as ready","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-04-18T18:29:33.710039+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spg11 has been classified as Green List (High Evidence).","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-04-18T18:29:28.157211+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPG11 as Green List (high evidence)","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-04-18T18:29:28.144103+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spg11 has been classified as Green List (High Evidence).","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-04-18T18:29:18.526828+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPG11 was added\ngene: SPG11 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPG11 were set to 18067136\nPhenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM#\t604360\nReview for gene: SPG11 was set to GREEN\nAdded comment: ID, thin corpus callosum, neuropathy reported in some individuals. \nSources: Expert list","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-04-18T18:26:05.672140+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPAST as ready","entity_name":"SPAST","entity_type":"gene"},{"created":"2020-04-18T18:26:05.659300+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spast has been classified as Green List (High Evidence).","entity_name":"SPAST","entity_type":"gene"},{"created":"2020-04-18T18:26:01.462527+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPAST as Green List (high evidence)","entity_name":"SPAST","entity_type":"gene"},{"created":"2020-04-18T18:26:01.449300+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spast has been classified as Green List (High Evidence).","entity_name":"SPAST","entity_type":"gene"},{"created":"2020-04-18T18:25:51.972159+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPAST was added\ngene: SPAST was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant, MIM#\t182601\nReview for gene: SPAST was set to GREEN\nAdded comment: Wide variation in age of onset, but onset as early as infancy reported. \nSources: Expert list","entity_name":"SPAST","entity_type":"gene"},{"created":"2020-04-18T18:23:03.910198+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC33A1 as ready","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2020-04-18T18:23:03.901201+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc33a1 has been classified as Red List (Low Evidence).","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2020-04-18T18:22:56.736331+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC33A1 was added\ngene: SLC33A1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC33A1 were set to 19061983; 20461110\nPhenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant, MIM#\t612539\nReview for gene: SLC33A1 was set to RED\nAdded comment: Single large multi-generational family reported, age of onset varied from 4 to 42 years. Bi-allelic variants in this gene cause a severe neurodegenerative phenotype. \nSources: Expert list","entity_name":"SLC33A1","entity_type":"gene"},{"created":"2020-04-18T18:17:04.653181+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SELENOI as ready","entity_name":"SELENOI","entity_type":"gene"},{"created":"2020-04-18T18:17:04.644265+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenoi has been classified as Amber List (Moderate Evidence).","entity_name":"SELENOI","entity_type":"gene"},{"created":"2020-04-18T18:17:01.953133+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SELENOI were changed from severe complicated hereditary spastic paraplegia, sensorineural-deafness, blindness, and seizures to Spastic paraplegia 81, autosomal recessive 618768; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals","entity_name":"SELENOI","entity_type":"gene"},{"created":"2020-04-18T18:16:45.551840+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SELENOI as Amber List (moderate evidence)","entity_name":"SELENOI","entity_type":"gene"},{"created":"2020-04-18T18:16:45.542827+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenoi has been classified as Amber List (Moderate Evidence).","entity_name":"SELENOI","entity_type":"gene"},{"created":"2020-04-18T18:16:34.451869+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: None; Publications: 28052917, 29500230; Phenotypes: Spastic paraplegia 81, autosomal recessive 618768, developmental delay, spasticity, periventricular white mater abnormalities, peripheral neuropathy, seizures, bifid uvula in some affected individuals; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SELENOI","entity_type":"gene"},{"created":"2020-04-18T18:13:44.679168+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SACS as ready","entity_name":"SACS","entity_type":"gene"},{"created":"2020-04-18T18:13:44.668992+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sacs has been classified as Green List (High Evidence).","entity_name":"SACS","entity_type":"gene"},{"created":"2020-04-18T18:13:40.740487+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SACS as Green List (high evidence)","entity_name":"SACS","entity_type":"gene"},{"created":"2020-04-18T18:13:40.727654+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sacs has been classified as Green List (High Evidence).","entity_name":"SACS","entity_type":"gene"},{"created":"2020-04-18T18:13:29.521582+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SACS: Changed phenotypes: Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550","entity_name":"SACS","entity_type":"gene"},{"created":"2020-04-18T18:13:20.397358+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SACS was added\ngene: SACS was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, MIM@\t270550\nReview for gene: SACS was set to GREEN\nAdded comment: Complex neurological phenotype but spasticity is prominent. \nSources: Expert list","entity_name":"SACS","entity_type":"gene"},{"created":"2020-04-18T18:08:07.086693+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: REEP1 as ready","entity_name":"REEP1","entity_type":"gene"},{"created":"2020-04-18T18:08:07.072681+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: reep1 has been classified as Green List (High Evidence).","entity_name":"REEP1","entity_type":"gene"},{"created":"2020-04-18T18:08:03.579601+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: REEP1 as Green List (high evidence)","entity_name":"REEP1","entity_type":"gene"},{"created":"2020-04-18T18:08:03.566405+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: reep1 has been classified as Green List (High Evidence).","entity_name":"REEP1","entity_type":"gene"},{"created":"2020-04-18T18:07:54.805035+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"gene: REEP1 was added\ngene: REEP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: REEP1 were set to 16826527; 19034539\nPhenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant, MIM#\t610250\nReview for gene: REEP1 was set to GREEN\nAdded comment: Gene also causes a neuropathy, and the two manifestations may represent a spectrum of disease. Age of onset highly variable, but onset in late childhood described. \nSources: Expert list","entity_name":"REEP1","entity_type":"gene"},{"created":"2020-04-18T18:04:03.425368+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLP1 as ready","entity_name":"PLP1","entity_type":"gene"},{"created":"2020-04-18T18:04:03.412092+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plp1 has been classified as Green List (High Evidence).","entity_name":"PLP1","entity_type":"gene"},{"created":"2020-04-18T18:03:58.975555+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLP1 as Green List (high evidence)","entity_name":"PLP1","entity_type":"gene"},{"created":"2020-04-18T18:03:58.965230+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plp1 has been classified as Green List (High Evidence).","entity_name":"PLP1","entity_type":"gene"},{"created":"2020-04-18T18:03:48.877882+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLP1 was added\ngene: PLP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PLP1 were set to 15627202; 8012387\nPhenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked, MIM#\t312920\nReview for gene: PLP1 was set to GREEN\nAdded comment: Allelic disorder to Pelizaeus-Merzbacher disease. \nSources: Expert list","entity_name":"PLP1","entity_type":"gene"},{"created":"2020-04-18T17:59:45.374009+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-04-18T17:56:22.162856+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NIPA1 as ready","entity_name":"NIPA1","entity_type":"gene"},{"created":"2020-04-18T17:56:22.149947+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nipa1 has been classified as Green List (High Evidence).","entity_name":"NIPA1","entity_type":"gene"},{"created":"2020-04-18T17:56:18.598765+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NIPA1 as Green List (high evidence)","entity_name":"NIPA1","entity_type":"gene"},{"created":"2020-04-18T17:56:18.589538+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nipa1 has been classified as Green List (High Evidence).","entity_name":"NIPA1","entity_type":"gene"},{"created":"2020-04-18T17:56:09.800294+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NIPA1 was added\ngene: NIPA1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NIPA1 were set to 14508710; 15711826\nPhenotypes for gene: NIPA1 were set to Spastic paraplegia 6, autosomal dominant, MIM#\t600363\nReview for gene: NIPA1 was set to GREEN\nAdded comment: Onset typically in second/third decade, but onset in late childhood also reported. \nSources: Expert list","entity_name":"NIPA1","entity_type":"gene"},{"created":"2020-04-18T17:53:13.285694+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF5A as ready","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-04-18T17:53:13.271900+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif5a has been classified as Green List (High Evidence).","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-04-18T17:53:08.726999+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF5A as Green List (high evidence)","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-04-18T17:53:08.717666+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif5a has been classified as Green List (High Evidence).","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-04-18T17:52:59.583783+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF5A was added\ngene: KIF5A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5A were set to 16489470; 21623771; 15452312; 18853458; 16476820\nPhenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant, MIM#\t604187\nReview for gene: KIF5A was set to GREEN\nAdded comment: Highly variable phenotype: some individuals have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some individuals show distal sensory impairment, which can be part of the 'pure' phenotype. However, some individuals also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of CMT. Rarely, individuals with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation likely represent extreme ends of the phenotypic spectrum of KIF5A mutations. \nSources: Expert list","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-04-18T17:47:25.986534+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF1A as ready","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-04-18T17:47:25.977340+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1a has been classified as Green List (High Evidence).","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-04-18T17:47:19.708630+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF1A as Green List (high evidence)","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-04-18T17:47:19.700034+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1a has been classified as Green List (High Evidence).","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-04-18T17:47:10.414515+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF1A was added\ngene: KIF1A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KIF1A were set to 26410750; 21487076; 22258533; 32096284; 31488895; 29159194; 25585697\nPhenotypes for gene: KIF1A were set to Spastic paraplegia 30, MIM#\t610357\nReview for gene: KIF1A was set to GREEN\nAdded comment: Spastic paraplegia-30 (SPG30) is a neurologic disorder characterized by onset of slowly progressive spastic paraplegia in the first or second decades of life. Affected individuals have unsteady spastic gait and hyperreflexia of the lower limbs. Some patients have a 'pure' form of the disorder, limited to spastic paraplegia, whereas others may have a 'complicated' form that includes cognitive dysfunction, learning disabilities, or behavioral abnormalities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy with thin corpus callosum on brain imaging. The phenotypic features represent a spectrum of abnormalities of the central, peripheral, and autonomic nervous system.\r\nMono-allelic and bi-allelic variants can both cause HSP, multiple families reported with both. \nSources: Expert list","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-04-18T17:41:14.580455+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSPD1 as ready","entity_name":"HSPD1","entity_type":"gene"},{"created":"2020-04-18T17:41:14.571914+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspd1 has been classified as Green List (High Evidence).","entity_name":"HSPD1","entity_type":"gene"},{"created":"2020-04-18T17:41:10.888860+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSPD1 as Green List (high evidence)","entity_name":"HSPD1","entity_type":"gene"},{"created":"2020-04-18T17:41:10.875740+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspd1 has been classified as Green List (High Evidence).","entity_name":"HSPD1","entity_type":"gene"},{"created":"2020-04-18T17:41:02.333339+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HSPD1 was added\ngene: HSPD1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: HSPD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, MIM#\t612233; Spastic paraplegia 13, autosomal dominant, MIM#\t605280\nReview for gene: HSPD1 was set to GREEN\nAdded comment: Bi-allelic variants cause a paediatric-onset leukodystrophy, with spasticity as a feature. Mono-allelic variants have been associated with adult-onset HSP. \nSources: Expert list","entity_name":"HSPD1","entity_type":"gene"},{"created":"2020-04-18T17:35:00.311924+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJC2 as ready","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-04-18T17:35:00.303080+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjc2 has been classified as Amber List (Moderate Evidence).","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-04-18T17:34:56.200286+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GJC2 as Amber List (moderate evidence)","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-04-18T17:34:56.191562+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjc2 has been classified as Amber List (Moderate Evidence).","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-04-18T17:34:46.357485+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJC2 was added\ngene: GJC2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GJC2 were set to 19056803; 31431325; 25059390\nPhenotypes for gene: GJC2 were set to Spastic paraplegia 44, autosomal recessive, MIM#\t613206\nReview for gene: GJC2 was set to AMBER\nAdded comment: Bi-allelic variants in GJC2 are associated with severe infantile-onset hypomyelinating leukodystrophy. One family reported with a milder phenotype, where spasticity was prominent. Onset of symptoms was in late childhood, with more marked progression in the third decade. Another family reported with an ataxia-predominant phenotype, and another with subclinical leukodystrophy. Hence the link between this gene and isolated HSP is not fully established at this stage. \nSources: Expert list","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-04-18T17:28:09.726759+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA2 as ready","entity_name":"GBA2","entity_type":"gene"},{"created":"2020-04-18T17:28:09.717762+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba2 has been classified as Green List (High Evidence).","entity_name":"GBA2","entity_type":"gene"},{"created":"2020-04-18T17:28:04.988071+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GBA2 as Green List (high evidence)","entity_name":"GBA2","entity_type":"gene"},{"created":"2020-04-18T17:28:04.974548+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba2 has been classified as Green List (High Evidence).","entity_name":"GBA2","entity_type":"gene"},{"created":"2020-04-18T17:27:56.916307+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GBA2 was added\ngene: GBA2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBA2 were set to 23332916; 23332917\nPhenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, MIM#\t614409\nReview for gene: GBA2 was set to GREEN\nAdded comment: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. \nSources: Expert list","entity_name":"GBA2","entity_type":"gene"},{"created":"2020-04-18T17:25:34.021349+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FA2H as ready","entity_name":"FA2H","entity_type":"gene"},{"created":"2020-04-18T17:25:34.012457+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fa2h has been classified as Green List (High Evidence).","entity_name":"FA2H","entity_type":"gene"},{"created":"2020-04-18T17:25:29.918656+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FA2H as Green List (high evidence)","entity_name":"FA2H","entity_type":"gene"},{"created":"2020-04-18T17:25:29.910504+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fa2h has been classified as Green List (High Evidence).","entity_name":"FA2H","entity_type":"gene"}]}