{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1560","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1558","results":[{"created":"2020-10-03T12:24:43.492885+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.563","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USH2A were changed from  to Usher syndrome, type 2A, MIM# 276901","entity_name":"USH2A","entity_type":"gene"},{"created":"2020-10-03T12:23:44.549642+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.562","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: USH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"USH2A","entity_type":"gene"},{"created":"2020-10-03T12:23:16.983140+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.561","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 2A, MIM# 276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"USH2A","entity_type":"gene"},{"created":"2020-10-03T12:21:32.836126+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4754","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STRC as ready","entity_name":"STRC","entity_type":"gene"},{"created":"2020-10-03T12:21:32.819027+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4754","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: strc has been classified as Green List (High Evidence).","entity_name":"STRC","entity_type":"gene"},{"created":"2020-10-03T12:21:25.341934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4754","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STRC were changed from  to Deafness, autosomal recessive 16, MIM# 603720","entity_name":"STRC","entity_type":"gene"},{"created":"2020-10-03T12:21:09.238155+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4753","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STRC were set to ","entity_name":"STRC","entity_type":"gene"},{"created":"2020-10-03T12:20:53.139845+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4752","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STRC","entity_type":"gene"},{"created":"2020-10-03T12:20:36.126434+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4751","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687802, 26011646, 26746617, 20301780; Phenotypes: Deafness, autosomal recessive 16, MIM# 603720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STRC","entity_type":"gene"},{"created":"2020-10-03T12:19:46.659611+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.561","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STRC as ready","entity_name":"STRC","entity_type":"gene"},{"created":"2020-10-03T12:19:46.649651+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.561","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: strc has been classified as Green List (High Evidence).","entity_name":"STRC","entity_type":"gene"},{"created":"2020-10-03T12:19:44.300670+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.561","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STRC were changed from  to Deafness, autosomal recessive 16, MIM# 603720","entity_name":"STRC","entity_type":"gene"},{"created":"2020-10-03T12:19:17.589858+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.560","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STRC were set to ","entity_name":"STRC","entity_type":"gene"},{"created":"2020-10-03T12:18:42.410105+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.559","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STRC","entity_type":"gene"},{"created":"2020-10-03T12:18:17.605589+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.558","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: STRC.","entity_name":"STRC","entity_type":"gene"},{"created":"2020-10-03T12:18:09.168110+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.558","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687802, 26011646, 26746617, 20301780; Phenotypes: Deafness, autosomal recessive 16, MIM# 603720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STRC","entity_type":"gene"},{"created":"2020-10-03T09:49:44.250293+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP1A2 were set to 30690204","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-10-03T09:49:19.902735+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATP1A2: Added comment: Two further families reported with this association in PMID 31608932; Changed publications: 30690204, 31608932","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-10-03T09:27:20.296107+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3053","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract; structural brain abnormalities; hypoventilation to Sandestig-Stefanova syndrome, 618804; microcephaly; ID; cataract; structural brain abnormalities; hypoventilation","entity_name":"NUP188","entity_type":"gene"},{"created":"2020-10-03T09:26:51.834866+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3052","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NUP188: Changed phenotypes: Sandestig-Stefanova syndrome, 618804, microcephaly, ID, cataract, structural brain abnormalities, hypoventilation","entity_name":"NUP188","entity_type":"gene"},{"created":"2020-10-03T09:26:34.836815+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract; structural brain abnormalities; hypoventilation to Sandestig-Stefanova syndrome, 618804; microcephaly; ID; cataract; structural brain abnormalities; hypoventilation","entity_name":"NUP188","entity_type":"gene"},{"created":"2020-10-03T09:26:10.012408+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.483","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NUP188: Changed phenotypes: Sandestig-Stefanova syndrome, 618804, microcephaly, ID, cataract, structural brain abnormalities, hypoventilation","entity_name":"NUP188","entity_type":"gene"},{"created":"2020-10-03T09:25:38.442988+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4751","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract; structural brain abnormalities; hypoventilation to Sandestig-Stefanova syndrome, 618804; microcephaly; ID; cataract; structural brain abnormalities; hypoventilation","entity_name":"NUP188","entity_type":"gene"},{"created":"2020-10-03T09:25:18.739591+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4750","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NUP188: Changed phenotypes: Sandestig-Stefanova syndrome, 618804, microcephaly, ID, cataract, structural brain abnormalities, hypoventilation","entity_name":"NUP188","entity_type":"gene"},{"created":"2020-10-03T09:25:01.605814+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract; structural brain abnormalities; hypoventilation to Sandestig-Stefanova syndrome, 618804; microcephaly; ID; cataract; structural brain abnormalities; hypoventilation","entity_name":"NUP188","entity_type":"gene"},{"created":"2020-10-03T09:24:27.811832+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NUP188: Changed phenotypes: Sandestig-Stefanova syndrome, 618804, microcephaly, ID, cataract, structural brain abnormalities, hypoventilation","entity_name":"NUP188","entity_type":"gene"},{"created":"2020-10-03T09:20:38.932642+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4750","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SETD1A as ready","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-10-03T09:20:38.922547+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4750","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setd1a has been classified as Green List (High Evidence).","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-10-03T09:20:31.156983+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4750","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SETD1A as Green List (high evidence)","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-10-03T09:20:31.149046+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4750","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setd1a has been classified as Green List (High Evidence).","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-10-03T09:20:16.176956+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4749","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SETD1A was added\ngene: SETD1A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SETD1A were set to 31197650; 32346159\nPhenotypes for gene: SETD1A were set to Epilepsy, early-onset, with or without developmental delay, MIM#\t618832\nReview for gene: SETD1A was set to GREEN\nAdded comment: 19 unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype, primarily manifesting and ID and seizures. LOF mechanism supported by functional data. Three mouse models. SNPs in this gene have also been associated with risk of developing schizophrenia. \nSources: Literature","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-10-03T09:18:57.062070+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3052","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SETD1A as ready","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-10-03T09:18:57.051604+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3052","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setd1a has been classified as Green List (High Evidence).","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-10-03T09:18:51.087728+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3052","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SETD1A as Green List (high evidence)","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-10-03T09:18:51.079233+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3052","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setd1a has been classified as Green List (High Evidence).","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-10-03T09:18:25.032393+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3051","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SETD1A was added\ngene: SETD1A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SETD1A were set to 31197650; 32346159\nPhenotypes for gene: SETD1A were set to Epilepsy, early-onset, with or without developmental delay, MIM#\t618832\nReview for gene: SETD1A was set to GREEN\nAdded comment: 19 unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype, primarily manifesting and ID and seizures. LOF mechanism supported by functional data. Three mouse models.\r\n\r\nSNPs in this gene have also been associated with risk of developing schizophrenia. \nSources: Literature","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-10-03T09:13:39.335000+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.874","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SETD1A: Added comment: PMID 32346159: Described 15 individuals with de novo SETD1A variants presenting with global developmental delay and/or intellectual disability, subtle facial dysmorphisms, behavioral and psychiatric problems. Examined cellular phenotypes in three patient-derived cell lines with three variants: p.Gly535Alafs*12, c.4582-2_4582delAG, and p.Tyr1499Asp and results suggested that that these variants behave as loss-of-function (LoF) alleles.; Changed publications: 31197650, 32346159; Changed phenotypes: Epilepsy, Intellectual disability","entity_name":"SETD1A","entity_type":"gene"},{"created":"2020-10-03T09:03:56.653810+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4748","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPDL were changed from Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome to Spastic paraplegia-83 (SPG83), MIM#619027; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T09:03:29.328087+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4747","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HPDL: Added comment: Although two distinct distinct disease associations have been assigned by OMIM, these clinical presentations likely represent a continuum of severity for an underlying mitochondrial disorder.; Changed phenotypes: Spastic paraplegia-83 (SPG83), MIM#619027, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T09:02:41.123747+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 17 individuals from 13 families, with a spectrum of neurologic impairment ranging from a severe congenital form without any neurological development (n = 2/17, 12%) to infantile-onset presentations (n = 10/17, 59%) with moderate to severe neurodevelopmental issues, partly with a pathology reminiscent of mitochondrial disease (Leigh-like syndrome), to juvenile-onset spastic paraplegia (n = 5/17, 29%). \nSources: Literature; to: 17 individuals from 13 families, with a spectrum of neurologic impairment ranging from a severe congenital form without any neurological development (n = 2/17, 12%) to infantile-onset presentations (n = 10/17, 59%) with moderate to severe neurodevelopmental issues, partly with a pathology reminiscent of mitochondrial disease (Leigh-like syndrome), to juvenile-onset spastic paraplegia (n = 5/17, 29%).\r\n\r\nAlthough two distinct distinct disease associations have been assigned by OMIM, these clinical presentations likely represent a continuum of severity for an underlying mitochondrial disorder.\r\nSources: Literature","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T09:01:49.942669+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HPDL: Changed phenotypes: Spastic paraplegia-83 (SPG83), MIM# 619027, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026, Progressive neurological disorder, Leigh-like syndrome","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T09:00:37.307609+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.874","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPDL as ready","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T09:00:37.295785+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.874","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hpdl has been classified as Green List (High Evidence).","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T09:00:32.136037+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.874","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HPDL as Green List (high evidence)","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T09:00:32.126083+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.874","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hpdl has been classified as Green List (High Evidence).","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T09:00:04.093159+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.873","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPDL was added\ngene: HPDL was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPDL were set to 32707086\nPhenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome\nReview for gene: HPDL was set to GREEN\nAdded comment: 17 individuals from 13 families, with a spectrum of neurologic impairment ranging from a severe congenital form without any neurological development (n = 2/17, 12%) to infantile-onset presentations (n = 10/17, 59%) with moderate to severe neurodevelopmental issues, partly with a pathology reminiscent of mitochondrial disease (Leigh-like syndrome), to juvenile-onset spastic paraplegia (n = 5/17, 29%).\r\n\r\nSeizures/epilepsy were reported in 9/17, 53%.\r\n\r\nFrequently observed additional clinical findings included chronic progression of neurological signs (n = 16/17, 94%), motor developmental delay (n = 12/17, 71%), intellectual impairment (n = 11/17, 65%), microcephaly (n = 9/16, 56%) . Other relevant clinical findings were visual disturbances/strabismus (n = 9/17, 53%) and loss of developmental milestones (n = 6/17, 35%).\r\n\r\nAcute central respiratory failure leading to life-threatening events requiring partly mechanically assisted ventilation occurred in half of individuals with infantile presentation (n = 5/10, 50%), respectively one third of all individuals (n = 5/17, 29%).\r\n\r\nDemyelinating neuropathy was present in three individuals (n = 3/11, 27%), with reduced sensory nerve conduction velocity (NCV) in all and severely reduced motor NCV in one. \nSources: Literature","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:57:37.994011+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: HPDL: 17 individuals from 13 families, with a spectrum of neurologic impairment ranging from a severe congenital form without any neurological development (n = 2/17, 12%) to infantile-onset presentations (n = 10/17, 59%) with moderate to severe neurodevelopmental issues, partly with a pathology reminiscent of mitochondrial disease (Leigh-like syndrome), to juvenile-onset spastic paraplegia (n = 5/17, 29%).\r\n\r\nFrequently observed clinical findings included chronic progression of neurological signs (n = 16/17, 94%), motor developmental delay (n = 12/17, 71%), intellectual impairment (n = 11/17, 65%), microcephaly (n = 9/16, 56%), and seizures/epilepsy (n = 9/17, 53%). Other relevant clinical findings were visual disturbances/strabismus (n = 9/17, 53%) and loss of developmental milestones (n = 6/17, 35%).\r\n\r\nAcute central respiratory failure leading to life-threatening events requiring partly mechanically assisted ventilation occurred in half of individuals with infantile presentation (n = 5/10, 50%), respectively one third of all individuals (n = 5/17, 29%).\r\n\r\nDemyelinating neuropathy was present in three individuals (n = 3/11, 27%), with reduced sensory nerve conduction velocity (NCV) in all and severely reduced motor NCV in one.","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:57:19.613821+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.508","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HPDL: Added comment: 17 individuals from 13 families, with a spectrum of neurologic impairment ranging from a severe congenital form without any neurological development (n = 2/17, 12%) to infantile-onset presentations (n = 10/17, 59%) with moderate to severe neurodevelopmental issues, partly with a pathology reminiscent of mitochondrial disease (Leigh-like syndrome), to juvenile-onset spastic paraplegia (n = 5/17, 29%).\r\n\r\nFrequently observed clinical findings included chronic progression of neurological signs (n = 16/17, 94%), motor developmental delay (n = 12/17, 71%), intellectual impairment (n = 11/17, 65%), microcephaly (n = 9/16, 56%), and seizures/epilepsy (n = 9/17, 53%). Other relevant clinical findings were visual disturbances/strabismus (n = 9/17, 53%) and loss of developmental milestones (n = 6/17, 35%).\r\n\r\nAcute central respiratory failure leading to life-threatening events requiring partly mechanically assisted ventilation occurred in half of individuals with infantile presentation (n = 5/10, 50%), respectively one third of all individuals (n = 5/17, 29%).\r\n\r\nDemyelinating neuropathy was present in three individuals (n = 3/11, 27%), with reduced sensory nerve conduction velocity (NCV) in all and severely reduced motor NCV in one.; Changed publications: 32707086; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:56:41.184457+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPDL as ready","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:56:41.173321+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hpdl has been classified as Green List (High Evidence).","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:56:36.618625+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HPDL as Green List (high evidence)","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:56:36.607591+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hpdl has been classified as Green List (High Evidence).","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:56:24.970067+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPDL was added\ngene: HPDL was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPDL were set to 32707086\nPhenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome\nReview for gene: HPDL was set to GREEN\nAdded comment: 17 individuals from 13 families, with a spectrum of neurologic impairment ranging from a severe congenital form without any neurological development (n = 2/17, 12%) to infantile-onset presentations (n = 10/17, 59%) with moderate to severe neurodevelopmental issues, partly with a pathology reminiscent of mitochondrial disease (Leigh-like syndrome), to juvenile-onset spastic paraplegia (n = 5/17, 29%). \nSources: Literature","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:54:34.377516+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3050","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Intellectual impairment is variable, ranging from poor visual contact with inability to walk or speak to milder intellectual disability with the ability to say some words.; to: 17 individuals from 13 families, with a spectrum of neurologic impairment ranging from a severe congenital form without any neurological development (n = 2/17, 12%) to infantile-onset presentations (n = 10/17, 59%) with moderate to severe neurodevelopmental issues, partly with a pathology reminiscent of mitochondrial disease (Leigh-like syndrome), to juvenile-onset spastic paraplegia (n = 5/17, 29%).\r\n\r\nIntellectual impairment is variable, ranging from poor visual contact with inability to walk or speak to milder intellectual disability with the ability to say some words.\r\n\r\nFrequently observed additional clinical findings included chronic progression of neurological signs (n = 16/17, 94%), microcephaly (n = 9/16, 56%), and seizures/epilepsy (n = 9/17, 53%). Other relevant clinical findings were visual disturbances/strabismus (n = 9/17, 53%) and loss of developmental milestones (n = 6/17, 35%).\r\n\r\nAcute central respiratory failure leading to life-threatening events requiring partly mechanically assisted ventilation occurred in half of individuals with infantile presentation (n = 5/10, 50%), respectively one third of all individuals (n = 5/17, 29%).\r\n\r\nDemyelinating neuropathy was present in three individuals (n = 3/11, 27%), with reduced sensory nerve conduction velocity (NCV) in all and severely reduced motor NCV in one. ","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:53:08.804578+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4747","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: HPDL: 17 individuals from 13 families, with a spectrum of neurologic impairment ranging from a severe congenital form without any neurological development (n = 2/17, 12%) to infantile-onset presentations (n = 10/17, 59%) with moderate to severe neurodevelopmental issues, partly with a pathology reminiscent of mitochondrial disease (Leigh-like syndrome), to juvenile-onset spastic paraplegia (n = 5/17, 29%).\r\n\r\nFrequently observed clinical findings included chronic progression of neurological signs (n = 16/17, 94%), motor developmental delay (n = 12/17, 71%), intellectual impairment (n = 11/17, 65%), microcephaly (n = 9/16, 56%), and seizures/epilepsy (n = 9/17, 53%). Other relevant clinical findings were visual disturbances/strabismus (n = 9/17, 53%) and loss of developmental milestones (n = 6/17, 35%).\r\n\r\nAcute central respiratory failure leading to life-threatening events requiring partly mechanically assisted ventilation occurred in half of individuals with infantile presentation (n = 5/10, 50%), respectively one third of all individuals (n = 5/17, 29%).\r\n\r\nDemyelinating neuropathy was present in three individuals (n = 3/11, 27%), with reduced sensory nerve conduction velocity (NCV) in all and severely reduced motor NCV in one.","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:50:14.651795+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPDL as ready","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:50:14.643475+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hpdl has been classified as Green List (High Evidence).","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:50:09.125000+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HPDL as Green List (high evidence)","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:50:09.114408+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hpdl has been classified as Green List (High Evidence).","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:49:57.668164+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPDL was added\ngene: HPDL was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPDL were set to 32707086\nPhenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome\nReview for gene: HPDL was set to GREEN\nAdded comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia. Extensive MRI abnormalities described, primarily affecting white matter (white matter atrophy and deficient myelination), basal ganglia, thalamus and brainstem. \nSources: Literature","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:39:53.342330+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3050","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPDL were changed from Progressive neurological disorder; Leigh-like syndrome to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:39:16.053760+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3049","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Mode of inheritance: None","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:38:31.162211+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPDL were changed from Progressive neurological disorder; Leigh-like syndrome to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:37:49.998937+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Mode of inheritance: None","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:37:25.273189+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.508","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPDL were changed from Progressive neurological disorder; Leigh-like syndrome to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:36:52.412698+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.507","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HPDL: Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:36:30.750783+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4747","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPDL were changed from Progressive neurological disorder; Leigh-like syndrome to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:36:01.575043+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4746","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HPDL: Changed rating: GREEN","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:35:46.503887+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4746","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPDL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Mode of inheritance: None","entity_name":"HPDL","entity_type":"gene"},{"created":"2020-10-03T08:26:12.066422+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4746","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN1A were set to 30368457; 12754708; 25754450; 32928894","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:25:51.951529+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4745","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCN1A: Changed publications: 29543227","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:25:28.481571+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4745","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN1A were changed from Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208 to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome; Febrile seizures; Arthrogryposis multiplex congenita","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:25:07.975889+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4744","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN1A were set to 30368457; 12754708; 25754450","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:24:35.798977+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4743","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCN1A: Added comment: Note we have reported the association with AMC previously in PMID 29543227 (Supplementary info) in an infant presenting with AMC and severe EE, and de novo p.(Ile1347Asn) variant which at the time was thought to only partially explain the phenotype, but in light of this new report, likely fully explains the phenotype. Given the presence of severe seizure disorder in the two infants who were phenotyped in the newborn period, this likely represents the severe end of the spectrum of SCN1A-related disorders rather than a distinct association.; Changed phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208, Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome, Febrile seizures, Arthrogryposis multiplex congenita","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:22:54.151064+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4743","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:20:10.959584+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCN1A: Changed phenotypes: Dravet syndrome, MIM# 607208, Arthrogryposis multiplex congenita","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:19:50.653720+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCN1A: Changed phenotypes: Dravet syndrome, MIM# 607208","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:18:19.632651+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN1A were changed from Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita; Dravet syndrome, MIM# 607208","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:15:48.640110+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN1A as ready","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:15:48.629584+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn1a has been classified as Green List (High Evidence).","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:15:02.628881+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCN1A as Green List (high evidence)","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:15:02.619043+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn1a has been classified as Green List (High Evidence).","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:14:39.638046+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCN1A was added\ngene: SCN1A was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN1A were set to 32928894; 29543227\nPhenotypes for gene: SCN1A were set to Arthrogryposis multiplex congenita\nReview for gene: SCN1A was set to GREEN\nAdded comment: Note SCN1A is a well-established cause of Dravet syndrome, MIM# 607208\r\n-----\r\nPMID: 32928894 (2020) - De novo missense variants in SCN1A (p.Leu893Phe, p.Ala989Thr, p.Ile236Thr) were identified in three unrelated patients with AMC which was diagnosed from the second trimester of pregnancy. One patient developed intractable epilepsy from birth and died at 21 days, while the other two pregnancies were terminated.\r\n\r\nNote we have reported this association previously in PMID 29543227 (Supplementary info) in an infant presenting with AMC and severe EE, and de novo p.(Ile1347Asn) variant which at the time was thought to only partially explain the phenotype, but in light of this new report, likely fully explains the phenotype. Given the presence of severe seizure disorder in the two infants who were phenotype in the newborn period, this likely represents the severe end of the spectrum of SCN1A-related disorders rather than a distinct association. \nSources: Literature","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T08:00:51.444995+10:00","panel_name":"Hereditary Haemorrhagic Telangiectasia","panel_id":260,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RASA1 were set to 27081547; 29891884; 30507091","entity_name":"RASA1","entity_type":"gene"},{"created":"2020-10-03T07:59:26.256521+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4743","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID: 32817298 (2020) - Two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, and telangiectasia, ectodermal dysplasia, brachydactyly and congenital heart disease. Functional analysis using in vitro kinase assays with recombinant proteins showed that the c.1808G>A, p.(Arg603His) variant represents a gain-of-function mutation encoding an enzyme with a constitutive, lipid-independent catalytic activity. The c.1774G>C, p.(Gly592Arg) variant in contrast shows a defect in substrate phosphorylation representing a loss-of-function mutation.\r\n\r\nc.1774G>C, p.(Gly592Arg) is recurrent, reported in 3/5 individuals.; to: PMID: 27479907 (2016): three individuals reported, two with the c.1774G>A variant and one with the c.896T>G variant. All had congenital heart disease, two had some developmental delay, and two had variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth; the third individuals had a 'disorganized eyebrow.' \r\n\r\nPMID: 32817298 (2020) - Two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, and telangiectasia, ectodermal dysplasia, brachydactyly and congenital heart disease. Functional analysis using in vitro kinase assays with recombinant proteins showed that the c.1808G>A, p.(Arg603His) variant represents a gain-of-function mutation encoding an enzyme with a constitutive, lipid-independent catalytic activity. The c.1774G>C, p.(Gly592Arg) variant in contrast shows a defect in substrate phosphorylation representing a loss-of-function mutation.\r\n\r\nc.1774G>C, p.(Gly592Arg) is recurrent, reported in 3/5 individuals.","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T07:58:59.930564+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID: 32817298 (2020) - Two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, and telangiectasia, ectodermal dysplasia, brachydactyly and congenital heart disease. Functional analysis using in vitro kinase assays with recombinant proteins showed that the c.1808G>A, p.(Arg603His) variant represents a gain-of-function mutation encoding an enzyme with a constitutive, lipid-independent catalytic activity. The c.1774G>C, p.(Gly592Arg) variant in contrast shows a defect in substrate phosphorylation representing a loss-of-function mutation.\r\n\r\nc.1774G>C, p.(Gly592Arg) is recurrent, reported in 3/5 individuals.; to: PMID: 27479907 (2016): three individuals reported, two with the c.1774G>A variant and one with the c.896T>G variant. All had congenital heart disease, two had some developmental delay, and two had variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth; the third individuals had a 'disorganized eyebrow.' \r\n\r\nPMID: 32817298 (2020) - Two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, and telangiectasia, ectodermal dysplasia, brachydactyly and congenital heart disease. Functional analysis using in vitro kinase assays with recombinant proteins showed that the c.1808G>A, p.(Arg603His) variant represents a gain-of-function mutation encoding an enzyme with a constitutive, lipid-independent catalytic activity. The c.1774G>C, p.(Gly592Arg) variant in contrast shows a defect in substrate phosphorylation representing a loss-of-function mutation.\r\n\r\nc.1774G>C, p.(Gly592Arg) is recurrent, reported in 3/5 individuals.","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T07:58:06.898312+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27479907, 32817298; Phenotypes: Congenital heart defects and ectodermal dysplasia, MIM# 617364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T07:54:17.168661+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4743","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRKD1 were set to 27479907","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T07:53:55.120207+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4742","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27479907, 32817298; Phenotypes: Congenital heart defects and ectodermal dysplasia, 617364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T07:52:03.938790+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRKD1 were set to 27479907","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T07:51:45.471014+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: PRKD1 was changed from  to Other","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T07:50:51.465558+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRKD1: Added comment: PMID: 32817298 (2020) - Two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, and telangiectasia, ectodermal dysplasia, brachydactyly and congenital heart disease. Functional analysis using in vitro kinase assays with recombinant proteins showed that the c.1808G>A, p.(Arg603His) variant represents a gain-of-function mutation encoding an enzyme with a constitutive, lipid-independent catalytic activity. The c.1774G>C, p.(Gly592Arg) variant in contrast shows a defect in substrate phosphorylation representing a loss-of-function mutation.\r\n\r\nc.1774G>C, p.(Gly592Arg) is recurrent, reported in 3/5 individuals.; Changed publications: 27479907, 32817298","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T07:46:12.032175+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3049","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKD1 as ready","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T07:46:12.026721+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3049","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Literature reviewed again: ID/DD reported in 2/5 but unclear at present if this is part of the phenotype given low number of affected individuals.","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T07:46:11.991297+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3049","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkd1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T07:44:53.078106+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3049","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRKD1 were set to 27479907","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T07:44:03.730846+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3048","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKD1 as Amber List (moderate evidence)","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T07:44:03.719792+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3048","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkd1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRKD1","entity_type":"gene"},{"created":"2020-10-03T02:13:10.961480+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4742","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 32928894; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-10-03T00:52:07.133347+10:00","panel_name":"Hereditary Haemorrhagic Telangiectasia","panel_id":260,"panel_version":"0.10","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32900839; Phenotypes: Capillary malformation-arteriovenous malformation 1, 608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"RASA1","entity_type":"gene"}]}