{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1207","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1205","results":[{"created":"2021-09-21T14:47:54.835878+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.115","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aff4 has been classified as Green List (High Evidence).","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-09-21T14:47:24.445870+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.114","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AFF4 was added\ngene: AFF4 was added to Skeletal dysplasia. Sources: Other\nMode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AFF4 were set to 25730767; 31058441\nPhenotypes for gene: AFF4 were set to CHOPS syndrome MIM#616368\nMode of pathogenicity for gene: AFF4 was set to Other\nReview for gene: AFF4 was set to GREEN\ngene: AFF4 was marked as current diagnostic\nAdded comment: CHOPS syndrome: C for Cognitive impairment and Coarse facies, H for Heart defects, O for Obesity, P for Pulmonary involvement and S for Short stature and Skeletal dysplasia. 8 out of 11 cases had skeletal dysplasia as a feature of the condition. Gain-of-function is the mechanism of disease. \nSources: Other","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-09-21T14:37:29.820818+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDX3X as ready","entity_name":"DDX3X","entity_type":"gene"},{"created":"2021-09-21T14:37:29.803952+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx3x has been classified as Green List (High Evidence).","entity_name":"DDX3X","entity_type":"gene"},{"created":"2021-09-21T14:37:21.949139+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DDX3X as Green List (high evidence)","entity_name":"DDX3X","entity_type":"gene"},{"created":"2021-09-21T14:37:21.936639+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx3x has been classified as Green List (High Evidence).","entity_name":"DDX3X","entity_type":"gene"},{"created":"2021-09-21T14:36:52.300965+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDHD2 as ready","entity_name":"DDHD2","entity_type":"gene"},{"created":"2021-09-21T14:36:52.288323+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.115","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":"2021-09-21T14:36:47.778193+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DDHD2 as Green List (high evidence)","entity_name":"DDHD2","entity_type":"gene"},{"created":"2021-09-21T14:36:47.767692+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.115","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":"2021-09-21T13:37:19.928672+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.114","user_name":"Danielle Ariti","item_type":"entity","text":"gene: DDX3X was added\ngene: DDX3X was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: DDX3X were set to 33528536\nPhenotypes for gene: DDX3X were set to Cerebral Palsy; Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958\nReview for gene: DDX3X was set to GREEN\nAdded comment: 6 individuals in CP cohort reported with de novo DDX3X variants. \nSources: Expert list","entity_name":"DDX3X","entity_type":"gene"},{"created":"2021-09-21T13:21:29.740519+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.114","user_name":"Danielle Ariti","item_type":"entity","text":"gene: DDHD2 was added\ngene: DDHD2 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDHD2 were set to 30705080; 34077496; 34321325\nPhenotypes for gene: DDHD2 were set to Cerebral Palsy; Spastic paraplegia 54, autosomal recessive MIM# 615033\nReview for gene: DDHD2 was set to GREEN\nAdded comment: Two individuals reported in CP cohort. Phenotype-Spastic diplegia, and ID.\r\n\r\nMultiple reports of CP-mimic patients with global developmental delay and non-progressive spastic gait.\r\n\r\nSPG54 individuals display CP-like phenotype such as intellectual disability, early-onset spasticity of the lower limbs and delayed psychomotor development. \nSources: Expert list","entity_name":"DDHD2","entity_type":"gene"},{"created":"2021-09-21T12:58:16.806655+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDC as ready","entity_name":"DDC","entity_type":"gene"},{"created":"2021-09-21T12:58:16.802427+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Phenotypic overlap with CP: ID and movement disorders","entity_name":"DDC","entity_type":"gene"},{"created":"2021-09-21T12:58:16.768522+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddc has been classified as Green List (High Evidence).","entity_name":"DDC","entity_type":"gene"},{"created":"2021-09-21T12:57:34.804693+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DDC as Green List (high evidence)","entity_name":"DDC","entity_type":"gene"},{"created":"2021-09-21T12:57:34.793467+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddc has been classified as Green List (High Evidence).","entity_name":"DDC","entity_type":"gene"},{"created":"2021-09-21T12:56:49.891654+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP2U1 as ready","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-09-21T12:56:49.879758+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.113","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":"2021-09-21T12:56:41.528769+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYP2U1 as Green List (high evidence)","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-09-21T12:56:41.518373+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.113","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":"2021-09-21T12:55:56.355248+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A2 as ready","entity_name":"COL4A2","entity_type":"gene"},{"created":"2021-09-21T12:55:56.344911+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a2 has been classified as Green List (High Evidence).","entity_name":"COL4A2","entity_type":"gene"},{"created":"2021-09-21T12:55:50.257587+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL4A2 as Green List (high evidence)","entity_name":"COL4A2","entity_type":"gene"},{"created":"2021-09-21T12:55:50.248312+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a2 has been classified as Green List (High Evidence).","entity_name":"COL4A2","entity_type":"gene"},{"created":"2021-09-21T12:17:02.680565+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.111","user_name":"Danielle Ariti","item_type":"entity","text":"gene: DDC was added\ngene: DDC was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDC were set to 33528536; 30799092; 33996177\nPhenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency MIM# 608643\nReview for gene: DDC was set to AMBER\nAdded comment: Single case reported in CP cohort with Dystonic cerebral palsy.\r\n\r\nMultiple AADCD cases reported as CP- mimics due to phenotype overlap: dystonia and developmental delay.\r\n\r\nAADCD being is an inborn error in neurotransmitter metabolism disorder that leads to combined serotonin and catecholamine deficiency. Clinically characterised by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction (infancy/ early childhood); displays CP-like features. \nSources: Expert list","entity_name":"DDC","entity_type":"gene"},{"created":"2021-09-21T12:14:34.499025+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1194","user_name":"Elena Savva","item_type":"entity","text":"gene: SPEN was added\ngene: SPEN was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPEN were set to PMID: 33596411\nPhenotypes for gene: SPEN were set to Radio-Tartaglia syndrome MIM#619312\nReview for gene: SPEN was set to AMBER\ngene: SPEN was marked as current diagnostic\nAdded comment: PMID: 33596411\r\n- 34 individuals with truncating variants in SPEN reported, most are de novo variants.\r\n- Clinical profile includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.\r\n- Authors showed haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females.\r\n\r\nSeizures were observed in only 3/32 (~9%) of patients \nSources: Literature","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T12:13:04.139320+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.167","user_name":"Elena Savva","item_type":"entity","text":"gene: SPEN was added\ngene: SPEN was added to Autism. Sources: Literature\nMode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPEN were set to PMID: 33596411\nPhenotypes for gene: SPEN were set to Radio-Tartaglia syndrome MIM#619312\nReview for gene: SPEN was set to GREEN\ngene: SPEN was marked as current diagnostic\nAdded comment: PMID: 33596411\r\n- 34 individuals with truncating variants in SPEN reported, most are de novo variants.\r\n- Clinical profile includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.\r\n- Authors showed haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females. \nSources: Literature","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T12:04:33.044577+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.129","user_name":"Elena Savva","item_type":"entity","text":"gene: SPEN was added\ngene: SPEN was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPEN were set to PMID: 33596411\nPhenotypes for gene: SPEN were set to Radio-Tartaglia syndrome MIM#619312\nReview for gene: SPEN was set to GREEN\ngene: SPEN was marked as current diagnostic\nAdded comment: PMID: 33596411\r\n- 34 individuals with truncating variants in SPEN reported, most are de novo variants.\r\n- Clinical profile includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.\r\n- Authors showed haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females. \nSources: Literature","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T12:03:03.939608+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.92","user_name":"Elena Savva","item_type":"entity","text":"gene: SPEN was added\ngene: SPEN was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SPEN were set to PMID: 33596411\nPhenotypes for gene: SPEN were set to Radio-Tartaglia syndrome MIM#619312\nReview for gene: SPEN was set to AMBER\nAdded comment: PMID: 33596411\r\n- 34 individuals with truncating variants in SPEN reported, most are de novo variants.\r\n- Clinical profile includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.\r\n- Authors showed haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females.\r\n\r\nHearing loss reported in ~10% of patients, uncommon phenotype \nSources: Literature","entity_name":"SPEN","entity_type":"gene"},{"created":"2021-09-21T10:51:52.179875+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.111","user_name":"Danielle Ariti","item_type":"entity","text":"changed review comment from: Single case reported in CP cohort (bi-allelic c.A947T variant).\r\n\r\nSPG56 is an autosomal recessive neurodegenerative disorder characterised by early-onset progressive lower-limb spasticity. 4 reported SPG56 cases display CP-like phenotype: ID and spastic diplegia. \nSources: Expert list; to: Single case reported in CP cohort (bi-allelic p.D316V variant).\r\n\r\nSPG56 is an autosomal recessive neurodegenerative disorder characterised by early-onset progressive lower-limb spasticity. 4 reported SPG56 cases display CP-like phenotype: ID and spastic diplegia. \r\nSources: Expert list","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-09-21T10:48:43.145245+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.111","user_name":"Danielle Ariti","item_type":"entity","text":"gene: CYP2U1 was added\ngene: CYP2U1 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP2U1 were set to 33528536; 29761117; 23176821\nPhenotypes for gene: CYP2U1 were set to Cerebral Palsy; Spastic paraplegia 56, autosomal recessive MIM# 615030\nReview for gene: CYP2U1 was set to GREEN\nAdded comment: Single case reported in CP cohort (bi-allelic c.A947T variant).\r\n\r\nSPG56 is an autosomal recessive neurodegenerative disorder characterised by early-onset progressive lower-limb spasticity. 4 reported SPG56 cases display CP-like phenotype: ID and spastic diplegia. \nSources: Expert list","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2021-09-21T10:14:23.043633+10:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"0.3","user_name":"Anna Le Fevre","item_type":"entity","text":"reviewed gene: NLRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26323243, 31829238, 29574422, 30877238, 32222962, 34440388; Phenotypes: Miscarriage, Beckwith-Wiedemann syndrome, Multi locus imprinting disturbance in offspring; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NLRP5","entity_type":"gene"},{"created":"2021-09-21T10:01:29.449029+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.111","user_name":"Danielle Ariti","item_type":"entity","text":"gene: COL4A2 was added\ngene: COL4A2 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: COL4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COL4A2 were set to 33528536; 33912663\nPhenotypes for gene: COL4A2 were set to Cerebral Palsy; Brain small vessel disease 2 MIM# 614483\nReview for gene: COL4A2 was set to GREEN\nAdded comment: 7 individuals in CP cohort have been reported with mono-allelic COL4A2 variants.  Phenotypic overlap: Spastic Triplegia, ID (no language), porencephaly and seizures. \r\n\r\n2 siblings reported with bi-allelic variants; Spastic Cerebral Palsy with ID and Epilepsy. \nSources: Expert list","entity_name":"COL4A2","entity_type":"gene"},{"created":"2021-09-21T09:47:37.770802+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATL1 were changed from Cerebral palsy; Spastic paraplegia 3A, autosomal dominant (OMIM 182600 ) to Cerebral palsy; Spastic paraplegia 3A, autosomal dominant (OMIM 182600 )","entity_name":"ATL1","entity_type":"gene"},{"created":"2021-09-21T09:47:22.685132+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATL1 were changed from Cerebral palsy to Cerebral palsy; Spastic paraplegia 3A, autosomal dominant (OMIM 182600 )","entity_name":"ATL1","entity_type":"gene"},{"created":"2021-09-21T09:46:59.358841+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATL1 were set to PMID: 32989326","entity_name":"ATL1","entity_type":"gene"},{"created":"2021-09-21T09:46:22.576629+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATL1 as Green List (high evidence)","entity_name":"ATL1","entity_type":"gene"},{"created":"2021-09-21T09:46:22.566532+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atl1 has been classified as Green List (High Evidence).","entity_name":"ATL1","entity_type":"gene"},{"created":"2021-09-21T09:05:45.464175+10:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"0.3","user_name":"Anna Le Fevre","item_type":"entity","text":"gene: ZNF445 was added\ngene: ZNF445 was added to Imprinting disorders. Sources: Literature\nMode of inheritance for gene: ZNF445 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF445 were set to PMID: 34039421; 30602440; 30846001\nPhenotypes for gene: ZNF445 were set to Temple syndrome; Multi locus imprinting disturbance (MLID)\nPenetrance for gene: ZNF445 were set to unknown\nReview for gene: ZNF445 was set to AMBER\nAdded comment: Suggested rating: AMBER\r\n\r\nSingle report (Kagami 2021) of a child with Temple syndrome and MLID found to have a novel homozygous truncating variant in ZNF445. ZNF445 has been shown to play a critical role in the maintenance of postfertilisation methylation imprints (Takahashi 2019). Mechanism and parent of origin effects remain uncertain. \nSources: Literature","entity_name":"ZNF445","entity_type":"gene"},{"created":"2021-09-21T08:48:24.071428+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NGLY1 as ready","entity_name":"NGLY1","entity_type":"gene"},{"created":"2021-09-21T08:48:24.060880+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ngly1 has been classified as Green List (High Evidence).","entity_name":"NGLY1","entity_type":"gene"},{"created":"2021-09-21T08:48:16.983482+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NGLY1 as Green List (high evidence)","entity_name":"NGLY1","entity_type":"gene"},{"created":"2021-09-21T08:48:16.973680+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ngly1 has been classified as Green List (High Evidence).","entity_name":"NGLY1","entity_type":"gene"},{"created":"2021-09-21T08:47:42.133546+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEXMIF as ready","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2021-09-21T08:47:42.122888+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nexmif has been classified as Red List (Low Evidence).","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2021-09-21T08:47:38.125330+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NEXMIF as Red List (low evidence)","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2021-09-21T08:47:38.116201+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nexmif has been classified as Red List (Low Evidence).","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2021-09-21T08:46:22.194019+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PANK2 as ready","entity_name":"PANK2","entity_type":"gene"},{"created":"2021-09-21T08:46:22.183441+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank2 has been classified as Amber List (Moderate Evidence).","entity_name":"PANK2","entity_type":"gene"},{"created":"2021-09-21T08:45:37.871013+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PANK2 as Amber List (moderate evidence)","entity_name":"PANK2","entity_type":"gene"},{"created":"2021-09-21T08:45:37.861079+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank2 has been classified as Amber List (Moderate Evidence).","entity_name":"PANK2","entity_type":"gene"},{"created":"2021-09-21T08:44:16.783802+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFAF2 as ready","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2021-09-21T08:44:16.760089+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufaf2 has been classified as Green List (High Evidence).","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2021-09-21T08:44:13.938219+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFAF2 were changed from Cerebral palsy to Cerebral palsy; Mitochondrial complex I deficiency nuclear type 10 (OMIM 618233)","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2021-09-21T08:43:28.826795+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFAF2 as Green List (high evidence)","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2021-09-21T08:43:28.817611+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufaf2 has been classified as Green List (High Evidence).","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2021-09-21T08:36:53.954973+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFA12 as ready","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-09-21T08:36:53.934317+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa12 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-09-21T08:36:43.031768+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA12 as Amber List (moderate evidence)","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-09-21T08:36:43.021520+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa12 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-09-21T07:57:56.262036+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NALCN as ready","entity_name":"NALCN","entity_type":"gene"},{"created":"2021-09-21T07:57:56.251400+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nalcn has been classified as Amber List (Moderate Evidence).","entity_name":"NALCN","entity_type":"gene"},{"created":"2021-09-21T07:57:48.832733+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NALCN were changed from Cerebral palsy to Cerebral palsy; Congenital contractures of the limbs and face, hypotonia, and developmental delay (OMIM 616266)","entity_name":"NALCN","entity_type":"gene"},{"created":"2021-09-21T07:57:14.176903+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NALCN as Amber List (moderate evidence)","entity_name":"NALCN","entity_type":"gene"},{"created":"2021-09-21T07:57:14.167017+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nalcn has been classified as Amber List (Moderate Evidence).","entity_name":"NALCN","entity_type":"gene"},{"created":"2021-09-21T00:00:06.880287+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33528536, PMID: 34321325; Phenotypes: Spastic paraplegia 3A, autosomal dominant (OMIM 182600 ); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATL1","entity_type":"gene"},{"created":"2021-09-20T23:36:43.066837+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"edited their review of gene: NALCN: Changed phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay (OMIM 616266)","entity_name":"NALCN","entity_type":"gene"},{"created":"2021-09-20T23:35:18.389013+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"Deleted their comment","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-09-20T23:35:11.244747+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"edited their review of gene: NDUFA12: Added comment: Mitochondrial disorder causing motor dysfunction with learning difficulties (OMIM 618244). One case in cerebral palsy cohort.; Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 23 (OMIM 618244)","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-09-20T23:31:02.056293+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"Deleted their comment","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2021-09-20T23:30:36.805461+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"edited their review of gene: NEXMIF: Added comment: Variants cause X-linked intellectual disability 98 (OMIM:300912). Developmental and epileptic encephalopathy with some affected individuals having movement phenotypes which could be considered CP-like, but did not find any published reports in CP cohorts to date.; Changed phenotypes: X-linked intellectual disability 98 (OMIM:300912)","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2021-09-20T23:22:50.713708+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"gene: PANK2 was added\ngene: PANK2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PANK2 were set to PMID: 33098801\nPhenotypes for gene: PANK2 were set to HARP syndrome ( OMIM 607236); Neurodegeneration with brain iron accumulation 1 (OMIM 234200)\nReview for gene: PANK2 was set to AMBER\nAdded comment: One case reported with dystonic cerebral palsy. Dystonia and spasticity are reported in cases with variants in PANK2. \nSources: Literature","entity_name":"PANK2","entity_type":"gene"},{"created":"2021-09-20T23:10:04.554196+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"gene: NGLY1 was added\ngene: NGLY1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NGLY1 were set to PMID:33528536\nPhenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation (OMIM 615273)\nReview for gene: NGLY1 was set to GREEN\nAdded comment: Three cases with biallelic P/LP variants reported in Clinical Laboratory Referral Cohort retrospectively analysed for genetic determinants of cerebral palsy. Autosomal recessive, multisystem disorder with some overlapping clinical features with cerebral palsy, but this is a progressive condition. \nSources: Literature","entity_name":"NGLY1","entity_type":"gene"},{"created":"2021-09-20T22:59:40.455120+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:33528536, PMID:34364746; Phenotypes: mitochondrial complex I deficiency nuclear type 10 (OMIM 618233); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2021-09-20T22:56:35.967050+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"Deleted their review","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2021-09-20T22:48:25.657406+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"changed review comment from: Variants cause X-linked intellectual disability 98 (OMIM:300912). Developmental and epileptic encephalopathy with some affected individuals having movement phenotypes which could be considered CP-like, but did not find any reports in CP cohorts to date. \nSources: Expert list; to: Variants cause X-linked intellectual disability 98 (OMIM:300912). Developmental and epileptic encephalopathy with some affected individuals having movement phenotypes which could be considered CP-like, but did not find any published reports in CP cohorts to date. \r\nSources: Expert list","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2021-09-20T22:46:14.128881+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"gene: NEXMIF was added\ngene: NEXMIF was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: NEXMIF were set to X-linked Intellectual disability; epilepsy; autism\nPenetrance for gene: NEXMIF were set to Incomplete\nReview for gene: NEXMIF was set to RED\nAdded comment: Variants cause X-linked intellectual disability 98 (OMIM:300912). Developmental and epileptic encephalopathy with some affected individuals having movement phenotypes which could be considered CP-like, but did not find any reports in CP cohorts to date. \nSources: Expert list","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2021-09-20T22:32:16.086736+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"changed review comment from: Two homozygous pathogenic deletions reported in cerebral palsy cohorts. Biallelic loss of function variants cause mitochondrial complex I deficiency nuclear type 10 (OMIM 618233). Most variants are LOF. Overlapping clinical phenotype.\r\nSources: Literature; to: Two homozygous pathogenic deletions reported in cerebral palsy cohorts. Biallelic loss of function variants cause mitochondrial complex I deficiency nuclear type 10 (OMIM 618233). Overlapping clinical phenotype.\r\nSources: Literature","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2021-09-20T22:31:50.542510+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"changed review comment from: Two homozygous pathogenic deletions reported in cerebral palsy cohorts. Biallelic loss of function variants cause mitochondrial complex I deficiency nuclear type 10 (OMIM 618233). \nSources: Literature; to: Two homozygous pathogenic deletions reported in cerebral palsy cohorts. Biallelic loss of function variants cause mitochondrial complex I deficiency nuclear type 10 (OMIM 618233). Most variants are LOF. Overlapping clinical phenotype.\r\nSources: Literature","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2021-09-20T22:26:01.616844+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"gene: NDUFAF2 was added\ngene: NDUFAF2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFAF2 were set to PMID:33528536; PMID:34364746\nPhenotypes for gene: NDUFAF2 were set to Cerebral palsy\nReview for gene: NDUFAF2 was set to GREEN\nAdded comment: Two homozygous pathogenic deletions reported in cerebral palsy cohorts. Biallelic loss of function variants cause mitochondrial complex I deficiency nuclear type 10 (OMIM 618233). \nSources: Literature","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2021-09-20T22:13:40.231174+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"gene: NDUFA12 was added\ngene: NDUFA12 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA12 were set to PMID:34364746\nPhenotypes for gene: NDUFA12 were set to Spastic tetraparesis; intellectual disability; encephalopathy\nReview for gene: NDUFA12 was set to AMBER\nAdded comment: Mitochondrial disorder causing motor dysfunction with learning difficulties (OMIM 618244). One case in cerebral palsy cohort. \nSources: Literature","entity_name":"NDUFA12","entity_type":"gene"},{"created":"2021-09-20T22:01:55.292624+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"reviewed gene: NALCN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:33528536, PMID:34364746; Phenotypes: Cerebral palsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NALCN","entity_type":"gene"},{"created":"2021-09-20T22:00:55.101537+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"Deleted their review","entity_name":"NALCN","entity_type":"gene"},{"created":"2021-09-20T21:58:30.469562+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.99","user_name":"Clare van Eyk","item_type":"entity","text":"gene: NALCN was added\ngene: NALCN was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NALCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NALCN were set to PMID:33528536; 34364746\nPhenotypes for gene: NALCN were set to Cerebral palsy\nReview for gene: NALCN was set to AMBER\nAdded comment: One case with pathogenic variant from clinical laboratory referral cohort. One additional VUS from tertiary care setting. NALCN variants cause a congenital disorder with contractures of the limbs, abnormal facial features, hypotonia, and developmental delay (OMIM: 611549). Cerebral palsy has not been described previously. \nSources: Literature","entity_name":"NALCN","entity_type":"gene"},{"created":"2021-09-20T19:20:02.323310+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9203","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CARMIL2 as ready","entity_name":"CARMIL2","entity_type":"gene"},{"created":"2021-09-20T19:20:02.312960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9203","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: carmil2 has been classified as Green List (High Evidence).","entity_name":"CARMIL2","entity_type":"gene"},{"created":"2021-09-20T19:19:53.980050+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9203","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CARMIL2 were changed from  to Immunodeficiency 58, MIM# 618131; Early onset paediatric inflammatory bowel disease","entity_name":"CARMIL2","entity_type":"gene"},{"created":"2021-09-20T19:19:36.982434+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9202","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CARMIL2 were set to ","entity_name":"CARMIL2","entity_type":"gene"},{"created":"2021-09-20T19:19:14.613492+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9201","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CARMIL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CARMIL2","entity_type":"gene"},{"created":"2021-09-20T19:18:57.347101+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9200","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CARMIL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29479355, 28112205, 27896283, 33723309; Phenotypes: Immunodeficiency 58, MIM# 618131, Early onset paediatric inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CARMIL2","entity_type":"gene"},{"created":"2021-09-20T19:18:47.515633+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CARMIL2 as ready","entity_name":"CARMIL2","entity_type":"gene"},{"created":"2021-09-20T19:18:47.504904+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: carmil2 has been classified as Green List (High Evidence).","entity_name":"CARMIL2","entity_type":"gene"},{"created":"2021-09-20T19:17:39.135866+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CARMIL2 as Green List (high evidence)","entity_name":"CARMIL2","entity_type":"gene"},{"created":"2021-09-20T19:17:39.125670+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: carmil2 has been classified as Green List (High Evidence).","entity_name":"CARMIL2","entity_type":"gene"},{"created":"2021-09-20T19:17:08.067368+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CARMIL2 was added\ngene: CARMIL2 was added to Inflammatory bowel disease. Sources: Expert Review\nMode of inheritance for gene: CARMIL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CARMIL2 were set to 33723309\nPhenotypes for gene: CARMIL2 were set to Early onset paediatric inflammatory bowel disease\nReview for gene: CARMIL2 was set to GREEN\nAdded comment: Bi-allelic variants in this gene are associated with immunodeficiency. Four individuals from three families reported with early onset IBD. None manifested overt clinical signs of immunodeficiency before their diagnosis. \nSources: Expert Review","entity_name":"CARMIL2","entity_type":"gene"},{"created":"2021-09-20T12:40:11.222027+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SETD5 as Amber List (moderate evidence)","entity_name":"SETD5","entity_type":"gene"},{"created":"2021-09-20T12:40:11.211671+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: setd5 has been classified as Amber List (Moderate Evidence).","entity_name":"SETD5","entity_type":"gene"},{"created":"2021-09-20T12:00:07.615016+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CHD4 as Amber List (moderate evidence)","entity_name":"CHD4","entity_type":"gene"},{"created":"2021-09-20T12:00:07.603916+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chd4 has been classified as Amber List (Moderate Evidence).","entity_name":"CHD4","entity_type":"gene"}]}