{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=566","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=564","results":[{"created":"2023-08-03T13:37:15.142546+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RINT1 were changed from Hereditary spastic paraplegia, MONDO:0019064, RINT1-related to Infantile liver failure syndrome 3, MIM# 618641; Hereditary spastic paraplegia, MONDO:0019064, RINT1-related","entity_name":"RINT1","entity_type":"gene"},{"created":"2023-08-03T13:36:33.154737+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RINT1 as Amber List (moderate evidence)","entity_name":"RINT1","entity_type":"gene"},{"created":"2023-08-03T13:36:33.143163+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rint1 has been classified as Amber List (Moderate Evidence).","entity_name":"RINT1","entity_type":"gene"},{"created":"2023-08-03T13:35:34.063390+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1080","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMARCA4 were changed from Coffin-Siris syndrome 4, MIM# 614609 to Coffin-Siris syndrome 4, MIM# 614609; Otosclerosis MONDO:0005349, SMARCA4-related","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2023-08-03T13:35:12.364339+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1079","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMARCA4 were set to 22426308","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2023-08-03T13:32:39.780185+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5324","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SLC4A10 as Green List (high evidence)","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T13:32:39.762226+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5324","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Green List (High Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T13:32:33.345111+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5323","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: SLC4A10 as ready","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T13:32:33.333877+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5323","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Red List (Low Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T13:32:30.340643+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBC1D31 as ready","entity_name":"TBC1D31","entity_type":"gene"},{"created":"2023-08-03T13:32:30.326903+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d31 has been classified as Red List (Low Evidence).","entity_name":"TBC1D31","entity_type":"gene"},{"created":"2023-08-03T13:31:22.092414+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBC1D31 as Red List (low evidence)","entity_name":"TBC1D31","entity_type":"gene"},{"created":"2023-08-03T13:31:22.072663+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d31 has been classified as Red List (Low Evidence).","entity_name":"TBC1D31","entity_type":"gene"},{"created":"2023-08-03T13:30:12.948818+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AQP4 as ready","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:30:12.936541+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aqp4 has been classified as Amber List (Moderate Evidence).","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:30:07.083865+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AQP4 as Amber List (moderate evidence)","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:30:07.073752+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aqp4 has been classified as Amber List (Moderate Evidence).","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:29:50.762019+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AQP4 was added\ngene: AQP4 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: AQP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AQP4 were set to 37143309\nPhenotypes for gene: AQP4 were set to Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448\nReview for gene: AQP4 was set to AMBER\nAdded comment: Borderline Amber/Red.\r\n\r\nPMID: 37143309 Missense variant in AQP4 seen homozygous in 2 siblings and het in the parents. Patients had macrocephaly, developmental delay, hypotonia, epilepsy, and cognitive deficit.\r\n\r\nWestern blots on generated MDCK cell lines showed no detectable expression of AQP4 protein from the cells with the patients variant. Immunofluorescence also showed no membrane expression. Overexpression studies in HEK293T cells showed WT was seen as mainly monomers or dimers where as variant protein formed large aggregates- likely due to the saturation of protein degradation pathways because of the overexpression. \nSources: Literature","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:28:07.762033+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTPA were set to 36073231","entity_name":"PTPA","entity_type":"gene"},{"created":"2023-08-03T13:27:26.628031+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTPA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PTPA","entity_type":"gene"},{"created":"2023-08-03T13:26:45.641145+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5323","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AQP4 as ready","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:26:45.629555+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5323","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aqp4 has been classified as Amber List (Moderate Evidence).","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:26:36.918080+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5323","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AQP4 were changed from ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 to Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:26:03.844507+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5322","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AQP4 as Amber List (moderate evidence)","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:26:03.832101+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5322","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aqp4 has been classified as Amber List (Moderate Evidence).","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:25:19.542898+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AQP4 as ready","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:25:19.529193+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aqp4 has been classified as Amber List (Moderate Evidence).","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:25:10.879723+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AQP4 were changed from ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 to Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:22:54.769999+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1076","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AQP4 as Amber List (moderate evidence)","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:22:54.757011+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1076","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aqp4 has been classified as Amber List (Moderate Evidence).","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:22:24.140578+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1879","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AQP4 as ready","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:22:24.127939+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1879","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aqp4 has been classified as Amber List (Moderate Evidence).","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:22:20.336862+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1879","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AQP4 were changed from ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 to Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:21:42.212919+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1878","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AQP4 as Amber List (moderate evidence)","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:21:42.200700+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1878","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aqp4 has been classified as Amber List (Moderate Evidence).","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:21:00.687943+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1877","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AQP4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:18:45.377239+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1075","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EZH1 as ready","entity_name":"EZH1","entity_type":"gene"},{"created":"2023-08-03T13:18:45.367857+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1075","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ezh1 has been classified as Green List (High Evidence).","entity_name":"EZH1","entity_type":"gene"},{"created":"2023-08-03T13:16:53.621040+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1075","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EZH1 as Green List (high evidence)","entity_name":"EZH1","entity_type":"gene"},{"created":"2023-08-03T13:16:53.606812+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1075","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ezh1 has been classified as Green List (High Evidence).","entity_name":"EZH1","entity_type":"gene"},{"created":"2023-08-03T13:16:35.483897+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1074","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EZH1 was added\ngene: EZH1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EZH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: EZH1 were set to 37433783\nPhenotypes for gene: EZH1 were set to Neurodevelopmental disorder (MONDO:0700092), EZH1-related\nReview for gene: EZH1 was set to GREEN\nAdded comment: PMID: 37433783\r\nVariants were identified 19 individuals from 14 unrelated families, all sharing a clinical phenotype of a neurodevelopmental disorder manifested early in life as global motor, speech and cognitive delay leading to intellectual disability, usually non-progressive and co-occurring with dysmorphic facial features.\r\n\r\nFunctional studies have shown that some missense EZH1 variants lead to GOF with increased methyltransferase activity and recessive variants impair EZH1 expression causing loss of function effects. \nSources: Literature","entity_name":"EZH1","entity_type":"gene"},{"created":"2023-08-03T13:14:54.168333+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5321","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EZH1 as ready","entity_name":"EZH1","entity_type":"gene"},{"created":"2023-08-03T13:14:54.159285+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5321","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ezh1 has been classified as Green List (High Evidence).","entity_name":"EZH1","entity_type":"gene"},{"created":"2023-08-03T13:14:50.191368+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5321","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EZH1 were changed from  to Neurodevelopmental disorder (MONDO:0700092), EZH1-related","entity_name":"EZH1","entity_type":"gene"},{"created":"2023-08-03T13:14:16.219023+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5320","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EZH1 were set to ","entity_name":"EZH1","entity_type":"gene"},{"created":"2023-08-03T13:13:33.230026+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5319","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EZH1 as Green List (high evidence)","entity_name":"EZH1","entity_type":"gene"},{"created":"2023-08-03T13:13:33.213894+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5319","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ezh1 has been classified as Green List (High Evidence).","entity_name":"EZH1","entity_type":"gene"},{"created":"2023-08-03T13:12:50.621815+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.66","user_name":"Chern Lim","item_type":"entity","text":"gene: RINT1 was added\ngene: RINT1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RINT1 were set to 37463447\nPhenotypes for gene: RINT1 were set to Hereditary spastic paraplegia, MONDO:0019064, RINT1-related\nReview for gene: RINT1 was set to AMBER\ngene: RINT1 was marked as current diagnostic\nAdded comment: PMID: 37463447\r\n-\t3 individuals from 2 unrelated families with biallelic LoF variants - hom canonical spice variant in 1 family, chet stopgain+canonical splice variants in another family.\r\n-\tAffected individuals presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, and dysmorphic features, broadening the previously described phenotype. \r\n-\tOne of the individual died at 14 months due to acute liver failure, probably before the development of a neurological phenotype. The episodic liver dysfunction two other patients was very similar to that previously reported in PMID: 31204009.\r\n-\tRNA studies showed the splice variants result in aberrant splicing. Other functional and lipidomic analyses supportive of pathogenicity. \nSources: Literature","entity_name":"RINT1","entity_type":"gene"},{"created":"2023-08-03T13:12:16.874532+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1073","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPRC5B as ready","entity_name":"GPRC5B","entity_type":"gene"},{"created":"2023-08-03T13:12:16.859425+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1073","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gprc5b has been classified as Green List (High Evidence).","entity_name":"GPRC5B","entity_type":"gene"},{"created":"2023-08-03T13:12:06.508533+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1073","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GPRC5B as Green List (high evidence)","entity_name":"GPRC5B","entity_type":"gene"},{"created":"2023-08-03T13:12:06.497751+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1073","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gprc5b has been classified as Green List (High Evidence).","entity_name":"GPRC5B","entity_type":"gene"},{"created":"2023-08-03T13:09:41.740005+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1072","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHF5A as ready","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T13:09:41.724717+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1072","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf5a has been classified as Green List (High Evidence).","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T13:09:31.720630+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1072","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PHF5A as Green List (high evidence)","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T13:09:31.671898+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1072","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf5a has been classified as Green List (High Evidence).","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T13:09:22.160389+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1071","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Additional phenotype reported:\r\n\r\nA single missense variant E1610K (M_001128849.3) was reported in 7 affected members of a family with progressive hearing loss due to otosclerosis and no other clinical features. Variant is absent from gnomAD. Note that unaffected members of the family were not tested.\r\n\r\nA mouse CRISPR model with the orthologous variant had a similar phenotype.; to: Additional phenotype reported:\r\n\r\nA single missense variant E1610K (M_001128849.3) was reported in 7 affected members of a family with progressive hearing loss due to otosclerosis and no other clinical features. Variant is absent from gnomAD. Note that unaffected members of the family were not tested - some obligate carriers were apparently unaffected, reflecting incomplete penetrance.\r\n\r\nA mouse CRISPR model with the orthologous variant had a similar phenotype.","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2023-08-03T13:08:20.171298+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1071","user_name":"Dean Phelan","item_type":"entity","text":"reviewed STR: CANVAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37450567; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (MIM:614575); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CANVAS","entity_type":"str"},{"created":"2023-08-03T13:08:09.076364+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5318","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHF5A as ready","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T13:08:09.060396+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5318","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf5a has been classified as Green List (High Evidence).","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T13:07:46.650065+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1071","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: PHF5A was added\ngene: PHF5A was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PHF5A were set to PMID: 37422718\nPhenotypes for gene: PHF5A were set to Neurodevelopmental disorder (MONDO#0700092), PHF5A-related\nReview for gene: PHF5A was set to GREEN\nAdded comment: Nine subjects with congenital malformations, including hypospadias, growth abnormalities, and developmental delay who had de novo PHF5A variants. Prenatally, six subjects had intrauterine growth retardation. All subjects had motor and speech delay and developmental delay. Congenital abnormalities comprised hypospadias in three of four male subjects, and heart defects (3/9), inguinal hernia (3/9), and sacral dimple (3/9). Six of the nine subjects had short stature. Craniofacial dysmorphism is variable in the nine subjects, high forehead and preauricular skin tag(s) in five subjects. \nSources: Expert list","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T13:07:03.259474+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1071","user_name":"Lilian Downie","item_type":"entity","text":"gene: TBC1D31 was added\ngene: TBC1D31 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TBC1D31 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D31 were set to PMID: 37468454\nPhenotypes for gene: TBC1D31 were set to congenital anomaly of kidney and urinary tract MONDO:0019719\nReview for gene: TBC1D31 was set to RED\nAdded comment: Single paper with homozygous mutations in 3 sibs with CAKUT from consanguineous family \nSources: Literature","entity_name":"TBC1D31","entity_type":"gene"},{"created":"2023-08-03T13:04:48.028719+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5318","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PHF5A as Green List (high evidence)","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T13:04:48.015525+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5318","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf5a has been classified as Green List (High Evidence).","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T13:04:38.916841+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1071","user_name":"Lucy Spencer","item_type":"entity","text":"gene: AQP4 was added\ngene: AQP4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AQP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AQP4 were set to 37143309\nPhenotypes for gene: AQP4 were set to ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448\nReview for gene: AQP4 was set to AMBER\nAdded comment: PMID: 37143309\r\nCohort of patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). Missense variant in AQP4 seen homozygous in 2 siblings and het in the parents. Patients had macrocephaly, developmental delay, hypotonia, epilepsy, and cognitive deficit. \r\n\r\nWestern blots on generated MDCK cell lines showed no detectable expression of AQP4 protein from the cells with the patients variant. Immunofluorescence also showed no membrane expression. Overexpression studies in HEK293T cells showed WT was seen as mainly monomers or dimers where as variant protein formed large aggregates- likely due to the saturation of protein degradation pathways because of the overexpression. \nSources: Literature","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:03:44.601848+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.135","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHF5A as ready","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T13:03:44.589870+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf5a has been classified as Green List (High Evidence).","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T13:03:03.660331+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.135","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHF5A were changed from PMID: 37422718 to Neurodevelopmental disorder (MONDO#0700092), PHF5A-related","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T13:02:16.178660+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.882","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: COX18 as Red List (low evidence)","entity_name":"COX18","entity_type":"gene"},{"created":"2023-08-03T13:02:16.159869+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.882","user_name":"Elena Savva","item_type":"entity","text":"Gene: cox18 has been classified as Red List (Low Evidence).","entity_name":"COX18","entity_type":"gene"},{"created":"2023-08-03T13:01:49.160786+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.882","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: COX18 as Red List (low evidence)","entity_name":"COX18","entity_type":"gene"},{"created":"2023-08-03T13:01:49.151144+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.882","user_name":"Elena Savva","item_type":"entity","text":"Gene: cox18 has been classified as Red List (Low Evidence).","entity_name":"COX18","entity_type":"gene"},{"created":"2023-08-03T13:01:39.096381+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.134","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHF5A were set to ","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T13:01:24.123978+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTNNB1 as Green List (high evidence)","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2023-08-03T13:01:24.120707+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTPA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PTPA","entity_type":"gene"},{"created":"2023-08-03T13:01:24.093935+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5317","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: GPRC5B as Green List (high evidence)","entity_name":"GPRC5B","entity_type":"gene"},{"created":"2023-08-03T13:01:24.078999+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctnnb1 has been classified as Green List (High Evidence).","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2023-08-03T13:01:24.058694+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5317","user_name":"Ain Roesley","item_type":"entity","text":"Gene: gprc5b has been classified as Green List (High Evidence).","entity_name":"GPRC5B","entity_type":"gene"},{"created":"2023-08-03T13:00:34.025473+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTNNB1 as ready","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2023-08-03T13:00:33.950608+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctnnb1 has been classified as Green List (High Evidence).","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2023-08-03T13:00:31.959883+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.881","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: COX18 as Red List (low evidence)","entity_name":"COX18","entity_type":"gene"},{"created":"2023-08-03T13:00:31.939357+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.881","user_name":"Elena Savva","item_type":"entity","text":"Gene: cox18 has been classified as Red List (Low Evidence).","entity_name":"COX18","entity_type":"gene"},{"created":"2023-08-03T13:00:28.896632+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTNNB1 as ready","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2023-08-03T13:00:28.880015+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctnnb1 has been classified as Green List (High Evidence).","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2023-08-03T13:00:17.955495+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5317","user_name":"Lucy Spencer","item_type":"entity","text":"gene: AQP4 was added\ngene: AQP4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: AQP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AQP4 were set to 37143309\nPhenotypes for gene: AQP4 were set to ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448\nReview for gene: AQP4 was set to AMBER\nAdded comment: PMID: 37143309\r\nCohort patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). Missense variant in AQP4 seen homozygous in 2 siblings and het in the parents. Patients had macrocephaly, developmental delay, hypotonia, epilepsy, and cognitive deficit. \r\n\r\nWestern blots on generated MDCK cell lines showed no detectable expression of AQP4 protein from the cells with the patients variant. Immunofluorescence also showed no membrane expression. Overexpression studies in HEK293T cells showed WT was seen as mainly monomers or dimers where as variant protein formed large aggregates- likely due to the saturation of protein degradation pathways because of the overexpression. \nSources: Literature","entity_name":"AQP4","entity_type":"gene"},{"created":"2023-08-03T13:00:14.643711+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5317","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: PHF5A was added\ngene: PHF5A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PHF5A were set to PMID: 37422718\nPhenotypes for gene: PHF5A were set to Neurodevelopmental disorder (MONDO#0700092), PHF5A-related\nReview for gene: PHF5A was set to GREEN\nAdded comment: Nine subjects with congenital malformations, including hypospadias, growth abnormalities, and developmental delay who had de novo PHF5A variants. Prenatally, six subjects had intrauterine growth retardation. All subjects had motor and speech delay and developmental delay. Congenital abnormalities comprised hypospadias in three of four male subjects, and heart defects (3/9), inguinal hernia (3/9), and sacral dimple (3/9). Six of the nine subjects had short stature. Craniofacial dysmorphism is variable in the nine subjects, high forehead and preauricular skin tag(s) in five subjects. \nSources: Expert list","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T12:59:53.135112+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5317","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: GPRC5B as Green List (high evidence)","entity_name":"GPRC5B","entity_type":"gene"},{"created":"2023-08-03T12:59:53.043211+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5317","user_name":"Ain Roesley","item_type":"entity","text":"Gene: gprc5b has been classified as Green List (High Evidence).","entity_name":"GPRC5B","entity_type":"gene"},{"created":"2023-08-03T12:59:53.034146+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTNNB1 as Green List (high evidence)","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2023-08-03T12:59:53.006246+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctnnb1 has been classified as Green List (High Evidence).","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2023-08-03T12:59:52.837467+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTPA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PTPA","entity_type":"gene"},{"created":"2023-08-03T12:59:38.675582+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.881","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: COX18 as Red List (low evidence)","entity_name":"COX18","entity_type":"gene"},{"created":"2023-08-03T12:59:38.591221+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.881","user_name":"Elena Savva","item_type":"entity","text":"Gene: cox18 has been classified as Red List (Low Evidence).","entity_name":"COX18","entity_type":"gene"},{"created":"2023-08-03T12:59:08.468292+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5317","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: GPRC5B as ready","entity_name":"GPRC5B","entity_type":"gene"},{"created":"2023-08-03T12:59:08.454327+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5317","user_name":"Ain Roesley","item_type":"entity","text":"Gene: gprc5b has been classified as Green List (High Evidence).","entity_name":"GPRC5B","entity_type":"gene"},{"created":"2023-08-03T12:59:03.120605+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.133","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PHF5A as Green List (high evidence)","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T12:59:03.040978+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf5a has been classified as Green List (High Evidence).","entity_name":"PHF5A","entity_type":"gene"},{"created":"2023-08-03T12:58:51.269636+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5317","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: GPRC5B as Green List (high evidence)","entity_name":"GPRC5B","entity_type":"gene"},{"created":"2023-08-03T12:58:51.191440+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5317","user_name":"Ain Roesley","item_type":"entity","text":"Gene: gprc5b has been classified as Green List (High Evidence).","entity_name":"GPRC5B","entity_type":"gene"},{"created":"2023-08-03T12:58:39.896899+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTNNB1 as Green List (high evidence)","entity_name":"CTNNB1","entity_type":"gene"}]}