{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=355","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=353","results":[{"created":"2024-11-07T12:45:44.335646+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6631","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: PCCA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCCA","entity_type":"gene"},{"created":"2024-11-07T12:45:17.437474+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6632","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: PCCB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCCB","entity_type":"gene"},{"created":"2024-11-07T12:44:52.849916+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6632","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: PCCB were set to 22593918","entity_name":"PCCB","entity_type":"gene"},{"created":"2024-11-07T12:44:01.054518+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6631","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: PCCB were set to ","entity_name":"PCCB","entity_type":"gene"},{"created":"2024-11-07T12:43:33.572485+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6631","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: PCCA were set to 22593918","entity_name":"PCCA","entity_type":"gene"},{"created":"2024-11-07T12:42:49.206877+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6631","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: PCCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCCA","entity_type":"gene"},{"created":"2024-11-07T12:42:26.279285+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6631","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: PCCB were changed from Propionicacidemia MIM#606054 to Propionicacidemia MIM#606054","entity_name":"PCCB","entity_type":"gene"},{"created":"2024-11-07T12:41:53.284401+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6631","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: PCCB were changed from  to Propionicacidemia MIM#606054","entity_name":"PCCB","entity_type":"gene"},{"created":"2024-11-07T12:41:15.365601+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6630","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: PCCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCCB","entity_type":"gene"},{"created":"2024-11-07T12:40:50.320515+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6631","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: PCDH19 were set to 28669061","entity_name":"PCDH19","entity_type":"gene"},{"created":"2024-11-07T12:40:16.802361+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6630","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: PCCA were set to ","entity_name":"PCCA","entity_type":"gene"},{"created":"2024-11-07T12:40:05.191270+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6630","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: PCDH19 as ready","entity_name":"PCDH19","entity_type":"gene"},{"created":"2024-11-07T12:40:05.167817+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6630","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pcdh19 has been classified as Green List (High Evidence).","entity_name":"PCDH19","entity_type":"gene"},{"created":"2024-11-07T12:39:47.291323+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6630","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: PCCA were changed from  to Propionicacidemia MIM#606054","entity_name":"PCCA","entity_type":"gene"},{"created":"2024-11-07T12:39:21.251923+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6630","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: PCDH19 were changed from  to Developmental and epileptic encephalopathy 9 MIM#300088","entity_name":"PCDH19","entity_type":"gene"},{"created":"2024-11-07T12:38:54.901933+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6630","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: PCDH19 were set to ","entity_name":"PCDH19","entity_type":"gene"},{"created":"2024-11-07T12:38:15.766305+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6630","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: PCDH19 was changed from Unknown to Other","entity_name":"PCDH19","entity_type":"gene"},{"created":"2024-11-07T12:36:49.517006+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6629","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: 28669061; Phenotypes: Developmental and epileptic encephalopathy 9 MIM#300088; Mode of inheritance: Other; Current diagnostic: yes","entity_name":"PCDH19","entity_type":"gene"},{"created":"2024-11-07T12:33:37.718906+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.69","user_name":"Chirag Patel","item_type":"entity","text":"gene: MARK2 was added\ngene: MARK2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MARK2 were set to PMID: 39419027, 39436150\nPhenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092\nReview for gene: MARK2 was set to GREEN\nAdded comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears). \r\n\r\nWES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.\r\n\r\nThe mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group.  In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD. \nSources: Literature","entity_name":"MARK2","entity_type":"gene"},{"created":"2024-11-07T12:33:27.685918+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6629","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: PCCB as ready","entity_name":"PCCB","entity_type":"gene"},{"created":"2024-11-07T12:33:27.667155+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6629","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pccb has been classified as Green List (High Evidence).","entity_name":"PCCB","entity_type":"gene"},{"created":"2024-11-07T12:33:15.054353+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.200","user_name":"Chirag Patel","item_type":"entity","text":"gene: MARK2 was added\ngene: MARK2 was added to Autism. Sources: Literature\nMode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MARK2 were set to PMID: 39419027, 39436150\nPhenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092\nReview for gene: MARK2 was set to GREEN\nAdded comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears). \r\n\r\nWES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.\r\n\r\nThe mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group.  In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD. \nSources: Literature","entity_name":"MARK2","entity_type":"gene"},{"created":"2024-11-07T12:33:13.186446+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6629","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 22593918; Phenotypes: Propionicacidemia MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PCCB","entity_type":"gene"},{"created":"2024-11-07T12:32:59.950028+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.69","user_name":"Chirag Patel","item_type":"entity","text":"gene: MARK2 was added\ngene: MARK2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MARK2 were set to PMID: 39419027, 39436150\nPhenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092\nReview for gene: MARK2 was set to GREEN\nAdded comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears). \r\n\r\nWES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.\r\n\r\nThe mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group.  In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD. \nSources: Literature","entity_name":"MARK2","entity_type":"gene"},{"created":"2024-11-07T12:32:59.943044+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6629","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MARK2 as Green List (high evidence)","entity_name":"MARK2","entity_type":"gene"},{"created":"2024-11-07T12:32:59.898690+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6629","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mark2 has been classified as Green List (High Evidence).","entity_name":"MARK2","entity_type":"gene"},{"created":"2024-11-07T12:32:32.937756+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.200","user_name":"Chirag Patel","item_type":"entity","text":"gene: MARK2 was added\ngene: MARK2 was added to Autism. Sources: Literature\nMode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MARK2 were set to PMID: 39419027, 39436150\nPhenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092\nReview for gene: MARK2 was set to GREEN\nAdded comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears). \r\n\r\nWES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.\r\n\r\nThe mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group.  In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD. \nSources: Literature","entity_name":"MARK2","entity_type":"gene"},{"created":"2024-11-07T12:32:17.088371+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6628","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: PCCA as ready","entity_name":"PCCA","entity_type":"gene"},{"created":"2024-11-07T12:32:17.066814+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6628","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pcca has been classified as Green List (High Evidence).","entity_name":"PCCA","entity_type":"gene"},{"created":"2024-11-07T12:32:01.202370+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6628","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22593918; Phenotypes: Propionicacidemia MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCCA","entity_type":"gene"},{"created":"2024-11-07T12:31:52.513413+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6628","user_name":"Chirag Patel","item_type":"entity","text":"gene: MARK2 was added\ngene: MARK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MARK2 were set to PMID: 39419027, 39436150\nPhenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092\nReview for gene: MARK2 was set to GREEN\nAdded comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears). \r\n\r\nWES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.\r\n\r\nThe mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group.  In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD. \nSources: Literature","entity_name":"MARK2","entity_type":"gene"},{"created":"2024-11-07T12:27:50.565035+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.420","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: ROCK2 was added\ngene: ROCK2 was added to Congenital Heart Defect. Sources: ClinGen\nMode of inheritance for gene: ROCK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ROCK2 were set to 28554332, 30622330, 31941532\nPhenotypes for gene: ROCK2 were set to congenital heart disease MONDO:0005453\nReview for gene: ROCK2 was set to AMBER\nAdded comment: Reported in 4 unrelated individuals however classified as LIMITED by ClinGen Congenital Heart Disease GCEP on 03/09/2024 - https://search.clinicalgenome.org/CCID:008432 \nSources: ClinGen","entity_name":"ROCK2","entity_type":"gene"},{"created":"2024-11-07T12:25:45.593246+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.373","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: KAT2B as ready","entity_name":"KAT2B","entity_type":"gene"},{"created":"2024-11-07T12:25:45.569791+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.373","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kat2b has been classified as Red List (Low Evidence).","entity_name":"KAT2B","entity_type":"gene"},{"created":"2024-11-07T12:24:57.153445+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2085","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: KAT2B as ready","entity_name":"KAT2B","entity_type":"gene"},{"created":"2024-11-07T12:24:57.136440+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2085","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kat2b has been classified as Red List (Low Evidence).","entity_name":"KAT2B","entity_type":"gene"},{"created":"2024-11-07T12:24:56.960650+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.373","user_name":"Ain Roesley","item_type":"entity","text":"gene: KAT2B was added\ngene: KAT2B was added to Cataract. Sources: Literature\nMode of inheritance for gene: KAT2B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KAT2B were set to 39366742\nPhenotypes for gene: KAT2B were set to cataract MONDO:0005129, KAT2B-related\nReview for gene: KAT2B was set to RED\ngene: KAT2B was marked as current diagnostic\nAdded comment: 1 family with 2 affected siblings homozygous for an NMD-predicted variant\r\n\r\nboth have steroid-resistant nephrotic syndrome and bilateral cataract\r\nonly 1 has FSGS \nSources: Literature","entity_name":"KAT2B","entity_type":"gene"},{"created":"2024-11-07T12:24:39.763666+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.229","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: KAT2B as ready","entity_name":"KAT2B","entity_type":"gene"},{"created":"2024-11-07T12:24:39.747792+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.229","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kat2b has been classified as Red List (Low Evidence).","entity_name":"KAT2B","entity_type":"gene"},{"created":"2024-11-07T12:24:38.221498+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2085","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: KAT2B were changed from steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related to steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related; cataract MONDO:0005129, KAT2B-related","entity_name":"KAT2B","entity_type":"gene"},{"created":"2024-11-07T12:23:43.427937+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2084","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: ROCK2 was added\ngene: ROCK2 was added to Mendeliome. Sources: ClinGen\nMode of inheritance for gene: ROCK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ROCK2 were set to 28554332, 30622330, 31941532\nPhenotypes for gene: ROCK2 were set to congenital heart disease MONDO:0005453\nReview for gene: ROCK2 was set to AMBER\nAdded comment: Reported in 4 unrelated individuals however classified as LIMITED by ClinGen Congenital Heart Disease GCEP on 03/09/2024 - https://search.clinicalgenome.org/CCID:008432 \nSources: ClinGen","entity_name":"ROCK2","entity_type":"gene"},{"created":"2024-11-07T12:23:14.875980+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.229","user_name":"Ain Roesley","item_type":"entity","text":"gene: KAT2B was added\ngene: KAT2B was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: KAT2B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KAT2B were set to 39366742\nPhenotypes for gene: KAT2B were set to steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related\nReview for gene: KAT2B was set to RED\ngene: KAT2B was marked as current diagnostic\nAdded comment: 1 family with 2 affected siblings homozygous for an NMD-predicted variant\r\n\r\nboth have steroid-resistant nephrotic syndrome and bilateral cataract\r\nonly 1 has FSGS \nSources: Literature","entity_name":"KAT2B","entity_type":"gene"},{"created":"2024-11-07T12:22:55.918615+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2084","user_name":"Ain Roesley","item_type":"entity","text":"gene: KAT2B was added\ngene: KAT2B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KAT2B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KAT2B were set to 39366742\nPhenotypes for gene: KAT2B were set to steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related\nReview for gene: KAT2B was set to RED\ngene: KAT2B was marked as current diagnostic\nAdded comment: 1 family with 2 affected siblings homozygous for an NMD-predicted variant\r\n\r\nboth have steroid-resistant nephrotic syndrome and bilateral cataract\r\nonly 1 has FSGS \nSources: Literature","entity_name":"KAT2B","entity_type":"gene"},{"created":"2024-11-07T12:08:43.180077+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2083","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: IKZF2: Changed rating: GREEN","entity_name":"IKZF2","entity_type":"gene"},{"created":"2024-11-07T12:08:29.240988+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2083","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IKZF2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 39406892; Phenotypes: nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"IKZF2","entity_type":"gene"},{"created":"2024-11-07T12:02:57.507530+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6627","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 39366741; Phenotypes: Global developmental delay without neuroregression; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UBTF","entity_type":"gene"},{"created":"2024-11-07T11:57:41.062000+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.546","user_name":"Andrew Coventry","item_type":"entity","text":"changed review comment from: Retinitis pigmentosa 56 - is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. Features include night blindness, progressive visual loss, macular retinal pigment epithelium (RPE) mottling / atrophy, decreased ERG amplitudes (affecting rods more severely than cones), colour vision defect, peripheral visual field loss, central scotoma, retinal blood vessel attenuation, and/or optic disc pallor. These features are largely distinct from the vitelliform macular dystrophy phenotype (MIM#616152).\r\n- biallelic loss-of-function consistently associates with retinitis pigmentosa, while monoallelic loss-of-function consistently associates with vitelliform macular dystrophy.\r\nPMID: 20673862 - 2 families each with 3 affected sibs. Additional 10 index cases identified. \r\n- Those with nonsenses showed early-onset RP, patient with missense variants had a milder maculopathy phenotype.\r\n\r\nFurther studies and evidence:\r\nMouse models present exhibiting RP phenotype. (PMID: 38217426 - indicates missense variants had minimal retinal pathology in mice)\r\nFunctional study present using patient derived iPS (PMID: 36206764) - confirmed LoF due to lack of expression or lack os post-translational modifications - destabilising outer segments of rods and cones.\r\n\r\nClinGen - curation definitive for AR RP phenotype in association with gene IMPG2, with 10 suspected disease-causing variants scored as part of their curation (five nonsense, one frameshift, one canonical splice site disruption, one in-frame exon deletion, and two missense). Variants were in 8 probands (PMID: 24876279, PMID: 20673862, PMID: 31264916, PMID: 34990796).\r\n\r\nRP genes already screened for by 1000+, consider above adequate evidence to upgrade to green status for inclusion in v2.; to: Retinitis pigmentosa 56 - is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. Features include night blindness, progressive visual loss, macular retinal pigment epithelium (RPE) mottling / atrophy, decreased ERG amplitudes (affecting rods more severely than cones), colour vision defect, peripheral visual field loss, central scotoma, retinal blood vessel attenuation, and/or optic disc pallor. These features are largely distinct from the vitelliform macular dystrophy phenotype (MIM#616152).\r\n- biallelic loss-of-function consistently associates with retinitis pigmentosa, while monoallelic loss-of-function consistently associates with vitelliform macular dystrophy.\r\nPMID: 20673862 - 2 families each with 3 affected sibs. Additional 10 index cases identified. \r\n- Those with nonsenses showed early-onset RP, patient with missense variants had a milder maculopathy phenotype.\r\n\r\nFurther studies and evidence:\r\nMouse models present exhibiting RP phenotype. (PMID: 38217426 - indicates missense variants had minimal retinal pathology in mice)\r\nFunctional study present using patient derived iPS (PMID: 36206764) - confirmed LoF due to lack of expression or lack os post-translational modifications - destabilising outer segments of rods and cones.\r\n\r\nClinGen - curation definitive for AR RP phenotype in association with gene IMPG2, with 10 suspected disease-causing variants scored as part of their curation (five nonsense, one frameshift, one canonical splice site disruption, one in-frame exon deletion, and two missense). Variants curated were in 8 probands (PMID: 24876279, PMID: 20673862, PMID: 31264916, PMID: 34990796).\r\n\r\nRP genes already screened for by 1000+, consider above adequate evidence to upgrade to green status for inclusion in v2.","entity_name":"IMPG2","entity_type":"gene"},{"created":"2024-11-07T11:57:09.859016+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.546","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: IMPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20673862, 32242237, 37806544, 36206764, 38217426, 32817297, 24876279, 31264916, 34990796; Phenotypes: Retinitis pigmentosa 56 MIM#613581; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IMPG2","entity_type":"gene"},{"created":"2024-11-07T11:26:41.089573+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.546","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, junctional 2B, severe (MIM#619784), 3. Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous (MIM#245660), Epidermolysis bullosa, junctional 2A, intermediate (MIM#619783); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA3","entity_type":"gene"},{"created":"2024-11-07T11:23:16.634760+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.546","user_name":"Andrew Coventry","item_type":"entity","text":"changed review comment from: Multiple families with recessive disease reported, reviewed in PMID 15589309. \r\nPatients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). Bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Recessive deficiency is thought to result in complete loss of cellular response to IFNG and absence of surface IFNGR1 expression. Animal models present.\r\n\r\nNote: AD condition associated with this gene - Immunodeficiency 27B, mycobacteriosis, MIM#615978. \r\nDominant deficiency is typically due to cytoplasmic domain truncations resulting in accumulation of non-functional IFNGR1 proteins that may impede the function of molecules encoded by the wildtype allele, thereby leading to diminished but not absent responsiveness to IFNG. Common deletions at and around nucleotide 818. (PMID: 10192386); to: Multiple families with recessive disease reported, reviewed in PMID 15589309. \r\nPatients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). Bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Recessive deficiency is thought to result in complete loss of cellular response to IFNG and absence of surface IFNGR1 expression. Animal models present.\r\n\r\nNote: AD condition associated with this gene - Immunodeficiency 27B, mycobacteriosis, MIM#615978. \r\nDominant deficiency is typically due to cytoplasmic domain truncations resulting in accumulation of non-functional IFNGR1 proteins that may impede the function of molecules encoded by the wildtype allele, thereby leading to diminished but not absent responsiveness to IFNG. Deletions including nucleotide 818 reported. (PMID: 10192386)","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2024-11-07T11:22:37.317036+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.546","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15589309, 10192386, 7815885, 12244188, 10811850, 9389728; Phenotypes: Immunodeficiency 27A, mycobacteriosis, MIM#209950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFNGR1","entity_type":"gene"},{"created":"2024-11-07T11:08:52.260664+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.546","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTPBP3","entity_type":"gene"},{"created":"2024-11-07T10:49:43.579229+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2083","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: ANKRD24 as ready","entity_name":"ANKRD24","entity_type":"gene"},{"created":"2024-11-07T10:49:43.567338+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2083","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ankrd24 has been classified as Red List (Low Evidence).","entity_name":"ANKRD24","entity_type":"gene"},{"created":"2024-11-07T10:49:34.711696+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2083","user_name":"Ain Roesley","item_type":"entity","text":"gene: ANKRD24 was added\ngene: ANKRD24 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ANKRD24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANKRD24 were set to PMID: 39434538\nPhenotypes for gene: ANKRD24 were set to sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related\nReview for gene: ANKRD24 was set to RED\ngene: ANKRD24 was marked as current diagnostic\nAdded comment: 1 consanguineous family with postlingual, moderate-to-severe autosomal recessive SNHL\r\n\r\n2 affecteds homozygous for c.1934_1937del; (p.Thr645Lysfs*52), which is NMD-predicted \nSources: Literature","entity_name":"ANKRD24","entity_type":"gene"},{"created":"2024-11-07T10:48:16.874172+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.68","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: DALRD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 39482881; Phenotypes: developmental and epileptic encephalopathy, 86 MONDO:0030054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DALRD3","entity_type":"gene"},{"created":"2024-11-07T10:47:49.324472+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2082","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: DALRD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 39482881; Phenotypes: developmental and epileptic encephalopathy, 86 MONDO:0030054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DALRD3","entity_type":"gene"},{"created":"2024-11-07T10:41:50.456730+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2082","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: ZNF862 as ready","entity_name":"ZNF862","entity_type":"gene"},{"created":"2024-11-07T10:41:50.445401+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2082","user_name":"Ain Roesley","item_type":"entity","text":"Gene: znf862 has been classified as Red List (Low Evidence).","entity_name":"ZNF862","entity_type":"gene"},{"created":"2024-11-07T10:41:26.037812+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2082","user_name":"Ain Roesley","item_type":"entity","text":"gene: ZNF862 was added\ngene: ZNF862 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF862 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF862 were set to PMID: 35142290\nPhenotypes for gene: ZNF862 were set to hereditary gingival fibromatosis MONDO:0016070 , ZNF862 -related\nReview for gene: ZNF862 was set to RED\ngene: ZNF862 was marked as current diagnostic\nAdded comment: 13 individuals in a large multi-generational family with hereditary gingival fibromatosis\r\n\r\nmissense variant with 5 hets in gnomad v4, very low conservation and benign REVEL score \nSources: Literature","entity_name":"ZNF862","entity_type":"gene"},{"created":"2024-11-07T10:35:32.208716+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.13","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SLC52A1 as ready","entity_name":"SLC52A1","entity_type":"gene"},{"created":"2024-11-07T10:35:32.195986+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc52a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC52A1","entity_type":"gene"},{"created":"2024-11-07T10:32:44.875236+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.315","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: LSM7: Rating: AMBER; Mode of pathogenicity: None; Publications: 39420558; Phenotypes: leukodystrophy MONDO:0019046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LSM7","entity_type":"gene"},{"created":"2024-11-07T10:32:14.608956+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2081","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: LSM7: Rating: AMBER; Mode of pathogenicity: None; Publications: 39420558; Phenotypes: leukodystrophy MONDO:0019046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LSM7","entity_type":"gene"},{"created":"2024-11-07T10:10:00.659173+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.291","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional, Herlitz type (MIM#226700) to Epidermolysis bullosa, junctional 2A, intermediate\tMIM#619783; Epidermolysis bullosa, junctional 2B, severe\tMIM#619784; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous\tMIM#245660","entity_name":"LAMA3","entity_type":"gene"},{"created":"2024-11-07T10:09:41.462694+11:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"1.11","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Laryngoonychocutaneous syndrome, MIM# 245660 to Epidermolysis bullosa, junctional 2A, intermediate\tMIM#619783; Epidermolysis bullosa, junctional 2B, severe\tMIM#619784; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous\tMIM#245660","entity_name":"LAMA3","entity_type":"gene"},{"created":"2024-11-07T10:09:30.867710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2081","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700 to Epidermolysis bullosa, junctional 2A, intermediate\tMIM#619783; Epidermolysis bullosa, junctional 2B, severe\tMIM#619784; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous\tMIM#245660","entity_name":"LAMA3","entity_type":"gene"},{"created":"2024-11-07T10:09:08.198842+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"1.17","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700 to Epidermolysis bullosa, junctional 2A, intermediate\tMIM#619783; Epidermolysis bullosa, junctional 2B, severe\tMIM#619784; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous\tMIM#245660","entity_name":"LAMA3","entity_type":"gene"},{"created":"2024-11-07T10:03:13.723902+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6627","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SGSM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39390489; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), SGSM3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SGSM3","entity_type":"gene"},{"created":"2024-11-07T10:02:39.838522+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2080","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SGSM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39390489; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), SGSM3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SGSM3","entity_type":"gene"},{"created":"2024-11-07T09:40:31.777220+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.13","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SLC52A1 as Amber List (moderate evidence)","entity_name":"SLC52A1","entity_type":"gene"},{"created":"2024-11-07T09:40:31.764879+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.13","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: MADD phenotype can mimic mitochondrial myopathy","entity_name":"SLC52A1","entity_type":"gene"},{"created":"2024-11-07T09:40:31.729363+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc52a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC52A1","entity_type":"gene"},{"created":"2024-11-07T09:34:22.054620+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.11","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC52A1 was added\ngene: SLC52A1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list\nMode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC52A1 were set to 37510312; 29122468; 21089064\nPhenotypes for gene: SLC52A1 were set to Maternal riboflavin deficiency\tMONDO:0014013","entity_name":"SLC52A1","entity_type":"gene"},{"created":"2024-11-07T09:32:29.060041+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.294","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNFRSF11A as ready","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2024-11-07T09:32:29.038904+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.294","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnfrsf11a has been classified as Green List (High Evidence).","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2024-11-07T09:32:21.910334+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.294","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNFRSF11A were set to ","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2024-11-07T09:31:49.385655+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNFRSF11A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2024-11-07T09:31:16.166040+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TNFRSF11A: Changed phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301, Osteolysis, familial expansile, MIM# 174810; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2024-11-07T08:24:58.614324+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.10","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SLC52A3 as ready","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2024-11-07T08:24:58.595851+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.10","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc52a3 has been classified as Green List (High Evidence).","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2024-11-07T08:24:44.600568+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.10","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SLC52A3 as Green List (high evidence)","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2024-11-07T08:24:44.583312+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.10","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc52a3 has been classified as Green List (High Evidence).","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2024-11-07T08:24:04.510817+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.9","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC52A3 was added\ngene: SLC52A3 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list\nMode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC52A3 were set to 29193829; 31868069; 29053833; 26072523\nPhenotypes for gene: SLC52A3 were set to Brown-Vialetto-van Laere syndrome 1 MONDO:0024537\nReview for gene: SLC52A3 was set to GREEN\ngene: SLC52A3 was marked as current diagnostic\nAdded comment: Phenotype can resemble Multiple Acyl-CoA Dehydrogenase Deficiency and can mimic a mitochondrial myopathy. \nSources: Expert list","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2024-11-07T08:24:02.540904+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.8","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SLC52A2 as ready","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2024-11-07T08:24:02.499625+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.8","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc52a2 has been classified as Green List (High Evidence).","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2024-11-07T08:22:56.214943+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.8","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SLC52A2 as Green List (high evidence)","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2024-11-07T08:22:56.186445+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.8","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc52a2 has been classified as Green List (High Evidence).","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2024-11-07T08:22:22.634696+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.7","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC52A2 was added\ngene: SLC52A2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC52A2 were set to 29193829; 31868069; 29053833; 26072523\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-van Laere syndrome 2 MONDO:0013867\nReview for gene: SLC52A2 was set to GREEN\ngene: SLC52A2 was marked as current diagnostic\nAdded comment: Phenotype can resemble Multiple Acyl-CoA Dehydrogenase Deficiency and can mimic a mitochondrial myopathy. \nSources: Expert list","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2024-11-07T08:14:36.241057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2080","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated individuals reported, all variants in exon 2 (first coding exon).; to: Three unrelated individuals reported, all variants in exon 2 (first coding exon), leading to the expression of a stable truncated protein.","entity_name":"GMNN","entity_type":"gene"},{"created":"2024-11-06T21:57:32.587527+11:00","panel_name":"Immunological disorders_SuperPanel","panel_id":239,"panel_version":"9.325","user_name":"Bryony Thompson","item_type":"panel","text":"Changed child panels to: Bone Marrow Failure; Combined Immunodeficiency; Systemic Autoinflammatory Disease_Periodic Fever; Phagocyte Defects; Common Variable Immunodeficiency; Severe Combined Immunodeficiency (absent T present B cells); Severe Combined Immunodeficiency (absent T absent B cells); Susceptibility to Fungal Infections; Hereditary angioedema; Hyper-IgE syndrome; Disorders of immune dysregulation; Predominantly Antibody Deficiency; Defects of innate immunity; Susceptibility to Viral Infections; Inflammatory bowel disease; Complement Deficiencies; Mendelian susceptibility to Immune Disorders","entity_name":null,"entity_type":null},{"created":"2024-11-06T19:56:45.359163+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.948","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPL49 as ready","entity_name":"MRPL49","entity_type":"gene"},{"created":"2024-11-06T19:56:45.325984+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.948","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl49 has been classified as Green List (High Evidence).","entity_name":"MRPL49","entity_type":"gene"},{"created":"2024-11-06T19:56:16.285310+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.948","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRPL49 as Green List (high evidence)","entity_name":"MRPL49","entity_type":"gene"},{"created":"2024-11-06T19:56:16.274219+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.948","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl49 has been classified as Green List (High Evidence).","entity_name":"MRPL49","entity_type":"gene"},{"created":"2024-11-06T19:01:03.877652+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.947","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRPL49 was added\ngene: MRPL49 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPL49 were set to 39417135\nPhenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related\nReview for gene: MRPL49 was set to GREEN\nAdded comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene. \nSources: Literature","entity_name":"MRPL49","entity_type":"gene"},{"created":"2024-11-06T18:56:23.243092+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2080","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LINC01578 as ready","entity_name":"LINC01578","entity_type":"gene"},{"created":"2024-11-06T18:56:23.229415+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2080","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: linc01578 has been classified as Green List (High Evidence).","entity_name":"LINC01578","entity_type":"gene"},{"created":"2024-11-06T18:56:13.778055+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2080","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LINC01578 were set to ","entity_name":"LINC01578","entity_type":"gene"},{"created":"2024-11-06T18:55:50.204970+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2079","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LINC01578: Changed publications: 39442041","entity_name":"LINC01578","entity_type":"gene"}]}