{"count":220212,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1386","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1384","results":[{"created":"2021-03-14T12:46:36.095198+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6695","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ENTPD1 were set to ","entity_name":"ENTPD1","entity_type":"gene"},{"created":"2021-03-14T12:46:17.283462+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6694","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ENTPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ENTPD1","entity_type":"gene"},{"created":"2021-03-14T12:45:57.378242+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6693","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 30652007; Phenotypes: Spastic paraplegia 64, autosomal recessive MIM#615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ENTPD1","entity_type":"gene"},{"created":"2021-03-14T12:45:10.621558+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ENTPD1 as ready","entity_name":"ENTPD1","entity_type":"gene"},{"created":"2021-03-14T12:45:10.607478+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: entpd1 has been classified as Green List (High Evidence).","entity_name":"ENTPD1","entity_type":"gene"},{"created":"2021-03-14T12:45:07.310067+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64, 615683 to Spastic paraplegia 64, autosomal recessive MIM#615683","entity_name":"ENTPD1","entity_type":"gene"},{"created":"2021-03-14T12:44:37.343122+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ENTPD1 were set to ","entity_name":"ENTPD1","entity_type":"gene"},{"created":"2021-03-14T12:42:30.710468+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C12orf65.","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:42:22.347970+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:41:51.599772+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.586","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C12orf65 as ready","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:41:51.589484+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.586","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c12orf65 has been classified as Green List (High Evidence).","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:41:47.783705+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.586","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C12orf65.","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:41:39.432333+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.586","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C12orf65 were changed from  to Spastic paraplegia 55, autosomal recessive, MIM#615035; Combined oxidative phosphorylation deficiency 7, MIM# 613559","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:41:10.518757+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C12orf65 were set to ","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:40:40.475917+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:40:05.805042+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.583","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM#615035, Combined oxidative phosphorylation deficiency 7, MIM# 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:38:38.907409+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6693","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C12orf65 as ready","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:38:38.898769+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6693","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c12orf65 has been classified as Green List (High Evidence).","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:38:26.787057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6693","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C12orf65 were changed from  to Spastic paraplegia 55, autosomal recessive, MIM#615035; Combined oxidative phosphorylation deficiency 7, MIM# 613559","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:38:04.240568+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6692","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C12orf65 were set to ","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:37:45.142560+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6691","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:37:24.600147+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6690","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C12orf65.","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:28:41.944766+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6690","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM#615035, Combined oxidative phosphorylation deficiency 7, MIM# 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:25:16.871266+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C12orf65.","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:25:08.781441+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C12orf65 as ready","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:25:08.770250+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c12orf65 has been classified as Green List (High Evidence).","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:24:50.539410+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C12orf65 were set to ","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:24:36.087378+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM# 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C12orf65","entity_type":"gene"},{"created":"2021-03-14T12:21:35.732351+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C19orf12 as ready","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:21:35.715324+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c19orf12 has been classified as Green List (High Evidence).","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:21:33.041594+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C19orf12 were changed from Mitochondrial membrane protein-associated neurodegeneration (MPAN) to Mitochondrial membrane protein-associated neurodegeneration (MPAN); Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:21:21.182582+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C19orf12 were set to ","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:21:11.419679+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:19:21.749371+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6690","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C19orf12 as ready","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:19:21.739150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6690","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c19orf12 has been classified as Green List (High Evidence).","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:19:13.745532+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6690","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C19orf12 were changed from  to Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:18:54.479990+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6689","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C19orf12 were set to ","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:18:36.169037+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6688","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C19orf12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:18:17.905897+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6687","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:17:53.215652+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:17:13.299764+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C19orf12 as ready","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:17:13.288671+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c19orf12 has been classified as Green List (High Evidence).","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:17:10.178993+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C19orf12 were set to ","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:16:55.079372+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33688131, 21981780, 22508347, 23269600, 31804703, 30088953, 20039086; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298, Spastic paraplegia 43, autosomal recessive, MIM# 615043; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"C19orf12","entity_type":"gene"},{"created":"2021-03-14T12:10:49.735328+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6687","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP2U1 as ready","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-03-14T12:10:49.726397+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6687","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp2u1 has been classified as Green List (High Evidence).","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-03-14T12:10:42.333144+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6687","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYP2U1 were changed from  to Spastic paraplegia 56, autosomal recessive, MIM#615030","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-03-14T12:10:24.041691+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6686","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP2U1 were set to ","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-03-14T12:10:04.765541+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6685","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYP2U1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-03-14T12:09:46.142123+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6684","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-03-14T12:09:34.863357+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6684","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CYP2U1: Added comment: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade. More than 5 unrelated families reported.; Changed rating: GREEN; Changed publications: 23176821, 32006740, 29034544","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-03-14T12:08:44.116363+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade.; to: SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. Onset is typically in the first decade. More than 5 unrelated families reported.","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-03-14T12:08:26.762529+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP2U1 as ready","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-03-14T12:08:26.751334+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp2u1 has been classified as Green List (High Evidence).","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-03-14T12:08:22.049611+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP2U1 were set to ","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-03-14T12:08:02.738487+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 32006740, 29034544; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM# 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-03-13T20:47:15.255281+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMPD2 as ready","entity_name":"AMPD2","entity_type":"gene"},{"created":"2021-03-13T20:47:15.243915+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ampd2 has been classified as Red List (Low Evidence).","entity_name":"AMPD2","entity_type":"gene"},{"created":"2021-03-13T20:47:12.834462+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMPD2 were changed from Pontocerebellar hypoplasia, type 9, 615809, AR; Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic); ?Spastic paraplegia 63, 615686, AR to Spastic paraplegia 63 MIM#615686","entity_name":"AMPD2","entity_type":"gene"},{"created":"2021-03-13T20:46:03.998809+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HARS2 as ready","entity_name":"HARS2","entity_type":"gene"},{"created":"2021-03-13T20:46:03.976928+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hars2 has been classified as Red List (Low Evidence).","entity_name":"HARS2","entity_type":"gene"},{"created":"2021-03-13T20:45:53.590461+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HARS2 were changed from Perrault syndrome 2 to Perrault syndrome 2, MIM#614926","entity_name":"HARS2","entity_type":"gene"},{"created":"2021-03-13T20:45:12.669349+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6684","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFRD1 as ready","entity_name":"IFRD1","entity_type":"gene"},{"created":"2021-03-13T20:45:12.657805+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6684","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifrd1 has been classified as Red List (Low Evidence).","entity_name":"IFRD1","entity_type":"gene"},{"created":"2021-03-13T20:44:16.603169+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6684","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFRD1 was added\ngene: IFRD1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IFRD1 were set to 29362493\nPhenotypes for gene: IFRD1 were set to Hereditary spastic paraplegia; peripheral neuropathy; ataxia\nReview for gene: IFRD1 was set to RED\nAdded comment: A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD. \nSources: Expert Review","entity_name":"IFRD1","entity_type":"gene"},{"created":"2021-03-13T20:44:12.838656+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6684","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFRD1 was added\ngene: IFRD1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IFRD1 were set to 29362493\nPhenotypes for gene: IFRD1 were set to Hereditary spastic paraplegia; peripheral neuropathy; ataxia\nReview for gene: IFRD1 was set to RED\nAdded comment: A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD. \nSources: Expert Review","entity_name":"IFRD1","entity_type":"gene"},{"created":"2021-03-13T20:42:31.573398+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFRD1 as ready","entity_name":"IFRD1","entity_type":"gene"},{"created":"2021-03-13T20:42:31.561121+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifrd1 has been classified as Red List (Low Evidence).","entity_name":"IFRD1","entity_type":"gene"},{"created":"2021-03-13T20:42:26.438682+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Tag refuted tag was added to gene: IFRD1.","entity_name":"IFRD1","entity_type":"gene"},{"created":"2021-03-13T20:40:59.852621+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLC4 as ready","entity_name":"KLC4","entity_type":"gene"},{"created":"2021-03-13T20:40:59.841277+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klc4 has been classified as Red List (Low Evidence).","entity_name":"KLC4","entity_type":"gene"},{"created":"2021-03-13T20:40:56.952281+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6683","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLC4 as ready","entity_name":"KLC4","entity_type":"gene"},{"created":"2021-03-13T20:40:56.944117+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6683","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klc4 has been classified as Red List (Low Evidence).","entity_name":"KLC4","entity_type":"gene"},{"created":"2021-03-13T20:40:47.371224+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6683","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLC4 was added\ngene: KLC4 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: KLC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLC4 were set to 26423925\nPhenotypes for gene: KLC4 were set to Complicated hereditary spastic paraplegia\nReview for gene: KLC4 was set to RED\nAdded comment: Single family reported. \nSources: Expert Review","entity_name":"KLC4","entity_type":"gene"},{"created":"2021-03-13T20:38:56.810490+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARS2 as ready","entity_name":"LARS2","entity_type":"gene"},{"created":"2021-03-13T20:38:56.802616+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lars2 has been classified as Red List (Low Evidence).","entity_name":"LARS2","entity_type":"gene"},{"created":"2021-03-13T20:38:53.376671+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LARS2 were changed from Perrault syndrome 4 to Perrault syndrome 4 MIM#615300","entity_name":"LARS2","entity_type":"gene"},{"created":"2021-03-13T20:38:24.136133+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MARS as ready","entity_name":"MARS","entity_type":"gene"},{"created":"2021-03-13T20:38:24.128308+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mars has been classified as Red List (Low Evidence).","entity_name":"MARS","entity_type":"gene"},{"created":"2021-03-13T20:38:21.215562+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MARS were changed from Complicated hereditary spastic paraplegia to Complicated hereditary spastic paraplegia; Charcot-Marie-Tooth disease, axonal, type 2U, MIM#\t616280","entity_name":"MARS","entity_type":"gene"},{"created":"2021-03-13T20:37:35.214209+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTPAP as ready","entity_name":"MTPAP","entity_type":"gene"},{"created":"2021-03-13T20:37:35.204047+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtpap has been classified as Red List (Low Evidence).","entity_name":"MTPAP","entity_type":"gene"},{"created":"2021-03-13T20:37:15.468160+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC19A3 as ready","entity_name":"SLC19A3","entity_type":"gene"},{"created":"2021-03-13T20:37:15.457632+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc19a3 has been classified as Red List (Low Evidence).","entity_name":"SLC19A3","entity_type":"gene"},{"created":"2021-03-13T20:37:12.996697+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC19A3 were changed from Biotin-thiamine-responsive basal ganglia disease to Biotin-thiamine-responsive basal ganglia disease, MIM#607483","entity_name":"SLC19A3","entity_type":"gene"},{"created":"2021-03-13T20:36:32.059491+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TPP1 as ready","entity_name":"TPP1","entity_type":"gene"},{"created":"2021-03-13T20:36:32.048005+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tpp1 has been classified as Red List (Low Evidence).","entity_name":"TPP1","entity_type":"gene"},{"created":"2021-03-13T20:36:29.261634+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis neuronal 2 to Ceroid lipofuscinosis neuronal 2, MIM#204500","entity_name":"TPP1","entity_type":"gene"},{"created":"2021-03-13T20:35:35.296203+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4M1 as ready","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-03-13T20:35:35.287736+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4m1 has been classified as Red List (Low Evidence).","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-03-13T20:35:30.878302+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP4M1 were changed from  to Spastic paraplegia 50, autosomal recessive, MIM# 612936","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-03-13T20:35:02.739014+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP4M1 were set to ","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-03-13T20:34:34.376147+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-03-13T20:34:11.119945+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP4M1 as Red List (low evidence)","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-03-13T20:34:11.111506+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4m1 has been classified as Red List (Low Evidence).","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-03-13T20:33:35.774565+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-03-13T20:32:16.694059+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP4M1 as Green List (high evidence)","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-03-13T20:32:16.686353+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4m1 has been classified as Green List (High Evidence).","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-03-13T20:31:49.367435+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6682","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4M1 as ready","entity_name":"AP4M1","entity_type":"gene"},{"created":"2021-03-13T20:31:49.356396+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6682","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4m1 has been classified as Green List (High Evidence).","entity_name":"AP4M1","entity_type":"gene"}]}