{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=157","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=155","results":[{"created":"2025-10-06T15:29:14.156134+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbox1 has been classified as Amber List (Moderate Evidence).","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:29:06.331433+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BBOX1 as Amber List (moderate evidence)","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:29:06.321544+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbox1 has been classified as Amber List (Moderate Evidence).","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:28:07.602317+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3288","user_name":"Sarah Milton","item_type":"entity","text":"changed review comment from: CPD encodes carboxypeptidase D which is part of the metallocarboxylpeptidases family. These enzymes are zinc dependent and cleave c terminal arginine and lysine. Which in turn has a role in production of nitric oxide which is known to play role in the cochlea.\r\n\r\nPMID: 41026541 describes 5 individuals from 3 families with biallelic missense variants in CPD who have prelingual onset bilateral profound SNHL. No syndromic features were noted in affected probands.\r\nAll variants appropriately rare in gnomad v4 for a rare recessive disorder. \r\nNo homozygous loss of function variants in gene in gnomad v4. \r\n\r\nFunctional studies demonstrated reduction in nitric oxide levels in patient cells as well as increased apoptosis with rescue upon introduction on L arginine. Proposed mechanism of disease is loss of function. \r\nDrosophila studies demonstrated disrupted Johnston’s organ morphology and impaired auditory transduction with partial rescue by arginine. Other supportive functional models discussed in paper. \r\n\r\nAuthors suggest potential treatment of affected individuals with arginine supplementation. \nSources: Literature; to: CPD encodes carboxypeptidase D which is part of the metallocarboxylpeptidases family. These enzymes are zinc dependent and cleave c terminal arginine and lysine. Which in turn has a role in production of nitric oxide which is known to play role in the cochlea.\r\n\r\nPMID: 41026541 describes 5 individuals from 3 families with biallelic missense variants in CPD who have prelingual onset bilateral profound SNHL. No syndromic features were noted in affected probands.\r\nAll variants appropriately rare in gnomad v4 for a rare recessive disorder. \r\nNo homozygous loss of function variants in gene in gnomad v4. \r\nAll families consanguineous.\r\n\r\nFunctional studies demonstrated reduction in nitric oxide levels in patient cells as well as increased apoptosis with rescue upon introduction on L arginine. Proposed mechanism of disease is loss of function. \r\nDrosophila studies demonstrated disrupted Johnston’s organ morphology and impaired auditory transduction with partial rescue by arginine. Other supportive functional models discussed in paper. \r\n\r\nAuthors suggest potential treatment of affected individuals with arginine supplementation. \r\nSources: Literature","entity_name":"CPD","entity_type":"gene"},{"created":"2025-10-06T15:24:46.141299+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.101","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBOX1 was added\ngene: BBOX1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: BBOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBOX1 were set to 41022783\nPhenotypes for gene: BBOX1 were set to Carnitine deficiency, MONDO:0017716, BBOX1-related\nReview for gene: BBOX1 was set to AMBER\nAdded comment: Three individuals from two unrelated families reported, presenting with myopathy, neurodevelopmental delay, and later-onset psychiatric manifestations. C. elegans knockout and patient-variant models show embryonic lethality rescued by L‑carnitine supplementation \nSources: Literature","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:23:00.309730+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.330","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BBOX1 as ready","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:23:00.302342+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.330","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbox1 has been classified as Amber List (Moderate Evidence).","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:22:55.836211+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.330","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BBOX1 as Amber List (moderate evidence)","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:22:55.828817+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.330","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bbox1 has been classified as Amber List (Moderate Evidence).","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:22:26.905198+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.329","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BBOX1 was added\ngene: BBOX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: BBOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBOX1 were set to 41022783\nPhenotypes for gene: BBOX1 were set to Carnitine deficiency, MONDO:0017716, BBOX1-related\nReview for gene: BBOX1 was set to AMBER\nAdded comment: Three individuals from two unrelated families reported, presenting with myopathy, neurodevelopmental delay, and later-onset psychiatric manifestations. C. elegans knockout and patient-variant models show embryonic lethality rescued by L‑carnitine supplementation \nSources: Literature","entity_name":"BBOX1","entity_type":"gene"},{"created":"2025-10-06T15:20:53.341180+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.232","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: NDUFAF8 as Amber List (moderate evidence)","entity_name":"NDUFAF8","entity_type":"gene"},{"created":"2025-10-06T15:20:53.334736+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.232","user_name":"Elena Savva","item_type":"entity","text":"Gene: ndufaf8 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFAF8","entity_type":"gene"},{"created":"2025-10-06T15:20:27.621216+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.231","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: NDUFAF8 as Amber List (moderate evidence)","entity_name":"NDUFAF8","entity_type":"gene"},{"created":"2025-10-06T15:20:27.614209+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.231","user_name":"Elena Savva","item_type":"entity","text":"Gene: ndufaf8 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFAF8","entity_type":"gene"},{"created":"2025-10-06T15:20:21.776416+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.230","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: NDUFAF8 as ready","entity_name":"NDUFAF8","entity_type":"gene"},{"created":"2025-10-06T15:20:21.767476+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.230","user_name":"Elena Savva","item_type":"entity","text":"Gene: ndufaf8 has been removed from the panel.","entity_name":"NDUFAF8","entity_type":"gene"},{"created":"2025-10-06T15:19:33.401634+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.230","user_name":"Anissa Johnson","item_type":"entity","text":"gene: NDUFAF8 was added\ngene: NDUFAF8 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFAF8 were set to PMID: 31866046; https://doi.org/10.1212/WNL.000000000021206\nPhenotypes for gene: NDUFAF8 were set to Mitochondrial complex I deficiency, nuclear type 34, MIM#618776; Leigh Syndrome MONDO:0009723\nReview for gene: NDUFAF8 was set to AMBER\nAdded comment: - Alston 2020: Reported 1 child (subject 1) with Leigh syndrome, who had hypsarrythmic electroencephalogram (EEG) and \"regular fleeting seizures\". They were compound heterozygous for c.45_52dup (p.Phe18Serfs*32) and c.195+271C>T (p.?), both inherited. \r\n- Sharma 2025: Abstract only. Aims to evaluate the presentation of infantile epileptic spasms syndrome (IESS) in primary mitochondrial disease (PMD). Mentions a single case of NDUFAF8 but specific patient information was not provided. \r\n- 1 VCGS internal patient who was homozygous for the deep intronic variant, c.195+271C>T, who presented with focal onset seizures and ID, who was also heterozygous for a likely pathogenic variant in SCN8A (paternally inherited). \nSources: Literature","entity_name":"NDUFAF8","entity_type":"gene"},{"created":"2025-10-06T15:19:05.355329+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3288","user_name":"Sarah Milton","item_type":"entity","text":"gene: CPD was added\ngene: CPD was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CPD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPD were set to PMID: 41026541\nPhenotypes for gene: CPD were set to Nonsyndromic genetic hearing loss, MONDO:0019497, CPD-related\nReview for gene: CPD was set to GREEN\nAdded comment: CPD encodes carboxypeptidase D which is part of the metallocarboxylpeptidases family. These enzymes are zinc dependent and cleave c terminal arginine and lysine. Which in turn has a role in production of nitric oxide which is known to play role in the cochlea.\r\n\r\nPMID: 41026541 describes 5 individuals from 3 families with biallelic missense variants in CPD who have prelingual onset bilateral profound SNHL. No syndromic features were noted in affected probands.\r\nAll variants appropriately rare in gnomad v4 for a rare recessive disorder. \r\nNo homozygous loss of function variants in gene in gnomad v4. \r\n\r\nFunctional studies demonstrated reduction in nitric oxide levels in patient cells as well as increased apoptosis with rescue upon introduction on L arginine. Proposed mechanism of disease is loss of function. \r\nDrosophila studies demonstrated disrupted Johnston’s organ morphology and impaired auditory transduction with partial rescue by arginine. Other supportive functional models discussed in paper. \r\n\r\nAuthors suggest potential treatment of affected individuals with arginine supplementation. \nSources: Literature","entity_name":"CPD","entity_type":"gene"},{"created":"2025-10-06T13:46:33.507909+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3288","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30384889, 31227780, 32870709, 35838873, 32879264, 34036930, 23715556, 29540472, 35288587, 37461109, 30847666, 27471098, 23715556; Phenotypes: Cardiomyopathy, hypertrophic, MIM#613873, Cardiomyopathy, dilated, 2E, MIM# 619492; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"JPH2","entity_type":"gene"},{"created":"2025-10-06T09:56:48.602720+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDHA1 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"PDHA1","entity_type":"gene"},{"created":"2025-10-06T08:29:54.280636+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.329","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LEMD2 as Green List (high evidence)","entity_name":"LEMD2","entity_type":"gene"},{"created":"2025-10-06T08:29:54.273842+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.329","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lemd2 has been classified as Green List (High Evidence).","entity_name":"LEMD2","entity_type":"gene"},{"created":"2025-10-06T08:29:20.889120+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3288","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LEMD2 as Green List (high evidence)","entity_name":"LEMD2","entity_type":"gene"},{"created":"2025-10-06T08:29:20.885803+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3288","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Biallelic cataract/cardiomyopathy association Amber & Monoallelic recurrent de novo progeroid syndrome association Green.","entity_name":"LEMD2","entity_type":"gene"},{"created":"2025-10-06T08:29:20.868454+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3288","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lemd2 has been classified as Green List (High Evidence).","entity_name":"LEMD2","entity_type":"gene"},{"created":"2025-10-06T08:27:56.302193+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.328","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LEMD2 was added\ngene: LEMD2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LEMD2 were set to 38757373; 37867468; 30905398\nPhenotypes for gene: LEMD2 were set to Marbach-Rustad progeroid syndrome MONDO:0859147\nReview for gene: LEMD2 was set to GREEN\nAdded comment: 4 unrelated cases with the recurrent de novo missense variant (c.1436C>Tp.Ser479Phe) and a progeroid syndrome phenotype. In vitro functional assays demonstrate abnormalities in the structure of the nuclear envelope in the tested tissues. \nSources: Literature","entity_name":"LEMD2","entity_type":"gene"},{"created":"2025-10-06T08:27:51.739806+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3287","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: LEMD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38757373, 37867468, 30905398; Phenotypes: Marbach-Rustad progeroid syndrome MONDO:0859147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LEMD2","entity_type":"gene"},{"created":"2025-10-06T08:10:15.924015+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.71","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: LEMD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LEMD2","entity_type":"gene"},{"created":"2025-10-06T07:34:45.770809+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INPP4A as ready","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:34:45.758050+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp4a has been classified as Green List (High Evidence).","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:34:43.464740+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INPP4A were changed from INPP4A-related neurodevelopmental disorder to Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:34:26.322331+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354; Mode of inheritance: None","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:34:09.527322+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.328","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INPP4A were changed from Intellectual disability to Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:33:43.883498+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.327","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INPP4A were set to 31978615; 31938306; 25338135; 20011524","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:33:11.378577+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.326","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: INPP4A: Changed phenotypes: Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:32:56.544049+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.230","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INPP4A as ready","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:32:56.536775+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp4a has been classified as Green List (High Evidence).","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:32:53.912748+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.230","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INPP4A were changed from INPP4A-related neurodevelopmental disorder to Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:32:26.270241+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.229","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354; Mode of inheritance: None","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:32:14.053042+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INPP4A as ready","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:32:14.042907+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp4a has been classified as Green List (High Evidence).","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:32:11.668081+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INPP4A were changed from INPP4A-related neurodevelopmental disorder to Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:31:41.587332+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354; Mode of inheritance: None","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:31:25.039851+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INPP4A as ready","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:31:25.032924+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp4a has been classified as Green List (High Evidence).","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:31:22.640811+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.342","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INPP4A were changed from INPP4A-related neurodevelopmental disorder to Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:30:56.968586+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.341","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354; Mode of inheritance: None","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:30:34.620492+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3287","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INPP4A were set to 31978615; 31938306; 25338135; 20011524","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:30:12.929527+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3286","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INPP4A were changed from Intellectual disability to Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:29:48.158190+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3285","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: INPP4A: Changed phenotypes: Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:29:35.449186+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INPP4A as ready","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:29:35.441127+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp4a has been classified as Green List (High Evidence).","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:29:32.436342+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INPP4A were changed from INPP4A-related neurodevelopmental disorder to Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:29:06.204135+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354; Mode of inheritance: None","entity_name":"INPP4A","entity_type":"gene"},{"created":"2025-10-06T07:28:20.494156+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLD4 were changed from Systemic lupus erythematosus - MONDO:0007915, PLD4-related to Systemic lupus erythematosus 18, MIM# 621369","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-10-06T07:27:58.607950+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.23","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Systemic lupus erythematosus 18, MIM# 621369; Mode of inheritance: None","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-10-06T07:27:41.736587+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3285","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLD4 were changed from Systemic lupus erythematosus - MONDO:0007915, PLD4-related to Systemic lupus erythematosus 18, MIM# 621369","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-10-06T07:27:24.161303+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3284","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Systemic lupus erythematosus 18, MIM# 621369; Mode of inheritance: None","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-10-05T15:55:29.539451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3284","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IL17RD as Red List (low evidence)","entity_name":"IL17RD","entity_type":"gene"},{"created":"2025-10-05T15:55:29.531450+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3284","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: il17rd has been classified as Red List (Low Evidence).","entity_name":"IL17RD","entity_type":"gene"},{"created":"2025-10-05T15:54:25.389517+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IL17RD as Red List (low evidence)","entity_name":"IL17RD","entity_type":"gene"},{"created":"2025-10-05T15:54:25.376576+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: il17rd has been classified as Red List (Low Evidence).","entity_name":"IL17RD","entity_type":"gene"},{"created":"2025-10-05T15:29:27.235825+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.392","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FBXO31 were set to PMID: 32989326","entity_name":"FBXO31","entity_type":"gene"},{"created":"2025-10-03T16:38:18.140543+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RHOBTB2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Complex neurodevelopmental disorder MONDO:0100038, RHOBTB2-related; Mode of inheritance: None","entity_name":"RHOBTB2","entity_type":"gene"},{"created":"2025-10-03T16:31:03.619299+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"edited their review of gene: RHOB: Changed phenotypes: Cerebral palsy MONDO:0006497, RHOB-related","entity_name":"RHOB","entity_type":"gene"},{"created":"2025-10-03T16:30:54.152069+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"changed review comment from: Adding a MONDO term cerebral palsy MONDO:000649, RHOB-related; to: Adding a MONDO term cerebral palsy MONDO:0006497, RHOB-related","entity_name":"RHOB","entity_type":"gene"},{"created":"2025-10-03T16:30:29.312299+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RHOB: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral palsy MONDO:000649, RHOB-related; Mode of inheritance: None","entity_name":"RHOB","entity_type":"gene"},{"created":"2025-10-03T16:25:32.915651+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RHBDF2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency disease MONDO:0021094, RHBDF2-related; Mode of inheritance: None","entity_name":"RHBDF2","entity_type":"gene"},{"created":"2025-10-03T16:20:44.865387+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RHBDF1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Dilated cardiomyopathy MONDO:0005021, RHBDF1-related; Mode of inheritance: None","entity_name":"RHBDF1","entity_type":"gene"},{"created":"2025-10-03T16:18:20.383929+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RGS9BP: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Prolonged electroretinal response suppression 2 MIM#620344; Mode of inheritance: None","entity_name":"RGS9BP","entity_type":"gene"},{"created":"2025-10-03T16:17:27.277253+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RGS9: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Prolonged electroretinal response suppression 1 MIM#608415; Mode of inheritance: None","entity_name":"RGS9","entity_type":"gene"},{"created":"2025-10-03T16:15:32.359792+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RGS10: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency disease MONDO:0021094, RGS10-related; Mode of inheritance: None","entity_name":"RGS10","entity_type":"gene"},{"created":"2025-10-03T16:12:33.331466+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RFXAP: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: MHC class II deficiency 4 MIM#620817; Mode of inheritance: None","entity_name":"RFXAP","entity_type":"gene"},{"created":"2025-10-03T16:09:10.769704+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RFX5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: MHC class II deficiency 5 MIM#620818, MHC class II deficiency 3 MIM#620816; Mode of inheritance: None","entity_name":"RFX5","entity_type":"gene"},{"created":"2025-10-03T15:57:03.952008+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: REV3L: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Mobius syndrome MONDO:0008006, REV3L-related; Mode of inheritance: None","entity_name":"REV3L","entity_type":"gene"},{"created":"2025-10-03T15:47:55.070515+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: REN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Tubulointerstitial kidney disease, autosomal dominant, 4 MIM#613092; Mode of inheritance: None","entity_name":"REN","entity_type":"gene"},{"created":"2025-10-03T15:35:43.686431+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RELA: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory disease, familial, Behcet-like-3 MIM#618287; Mode of inheritance: None","entity_name":"RELA","entity_type":"gene"},{"created":"2025-10-03T15:33:38.842400+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: REEP2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 72B, autosomal recessive MIM#620606, Spastic paraplegia 72A, autosomal dominant MIM#615625; Mode of inheritance: None","entity_name":"REEP2","entity_type":"gene"},{"created":"2025-10-03T15:26:34.544035+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RECQL4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: RECON progeroid syndrome MONDO:0957266, RECQL4-related; Mode of inheritance: None","entity_name":"RECQL4","entity_type":"gene"},{"created":"2025-10-03T15:22:11.579476+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RECQL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: RECON progeroid syndrome MIM#620370; Mode of inheritance: None","entity_name":"RECQL","entity_type":"gene"},{"created":"2025-10-03T15:14:45.596799+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RDH12: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: RDH12-related recessive retinopathy MONDO:0800099, RDH12-related dominant retinopathy MONDO:0800100; Mode of inheritance: None","entity_name":"RDH12","entity_type":"gene"},{"created":"2025-10-03T15:09:48.945163+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RCAN1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal segmental glomerulosclerosis MONDO:0100313, RCAN1-related; Mode of inheritance: None","entity_name":"RCAN1","entity_type":"gene"},{"created":"2025-10-03T15:06:43.843907+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RC3H1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Immune dysregulation and systemic hyperinflammation syndrome MIM#618998, Inborn error of immunity, MONDO:0003778, RC3H1-related; Mode of inheritance: None","entity_name":"RC3H1","entity_type":"gene"},{"created":"2025-10-03T14:53:21.902688+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RBM7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy  MONDO:0001516, RBM7-related; Mode of inheritance: None","entity_name":"RBM7","entity_type":"gene"},{"created":"2025-10-03T14:25:35.817417+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: REC8: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ovarian failure MONDO:0005387, REC8-related; Mode of inheritance: None","entity_name":"REC8","entity_type":"gene"},{"created":"2025-10-02T17:02:30.909336+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLG1 as ready","entity_name":"DLG1","entity_type":"gene"},{"created":"2025-10-02T17:02:30.899281+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlg1 has been classified as Red List (Low Evidence).","entity_name":"DLG1","entity_type":"gene"},{"created":"2025-10-02T17:02:25.443383+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DLG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DLG1","entity_type":"gene"},{"created":"2025-10-02T17:00:15.932602+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3283","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCL11B were set to 29985992","entity_name":"BCL11B","entity_type":"gene"},{"created":"2025-10-02T16:59:05.159857+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.229","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADGRV1 were changed from Myoclonic epilepsy; febrile seizures; epilepsy; Rolandic epilepsy to Epilepsy, MONDO:0005027, ADGRV1-related","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2025-10-02T16:58:35.803597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3282","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADGRV1 were changed from Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472 to Epilepsy, MONDO:0005027, ADGRV1-related; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2025-10-02T16:58:15.024695+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3281","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADGRV1 were set to 22147658, 25572244, 14740321","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2025-10-02T16:57:53.333709+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3280","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADGRV1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2025-10-02T16:57:36.395511+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3279","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29266188, 29261713, 32962041, 34160719, 40673693, 40217298, 36399868, 34744978; Phenotypes: Epilepsy, MONDO:0005027, ADGRV1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2025-10-02T16:56:21.964129+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.228","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADGRV1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2025-10-02T16:55:48.689474+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.227","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 40673693: individual with de novo variant and sleep-related hyper motor epilepsy.\r\nPMID 40217298: individual with de novo variant and ictal asystole.\r\nPMID 36399868: enrichment of rare variants, predicted as LP by in-silico tools in an epilepsy cohort.\r\nPMID 34744978: enrichment of rare variants in a Sudanese epilepsy cohort, one individual with homozygous variant was more severely affected.\r\n\r\nAMBER for bi-alleic association with epilepsy.; to: PMID 40673693: individual with de novo variant and sleep-related hyper motor epilepsy.\r\nPMID 40217298: individual with de novo variant and ictal asystole.\r\nPMID 36399868: enrichment of rare variants, predicted as LP by in-silico tools in an epilepsy cohort.\r\nPMID 34744978: enrichment of rare variants in a Sudanese epilepsy cohort, one individual with homozygous variant was more severely affected.\r\n\r\nAMBER for bi-allelic association with epilepsy.","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2025-10-02T16:55:41.034909+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.227","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADGRV1: Added comment: PMID 40673693: individual with de novo variant and sleep-related hyper motor epilepsy.\r\nPMID 40217298: individual with de novo variant and ictal asystole.\r\nPMID 36399868: enrichment of rare variants, predicted as LP by in-silico tools in an epilepsy cohort.\r\nPMID 34744978: enrichment of rare variants in a Sudanese epilepsy cohort, one individual with homozygous variant was more severely affected.\r\n\r\nAMBER for bi-alleic association with epilepsy.; Changed publications: 29266188, 29261713, 32962041, 34160719, 40673693, 40217298, 36399868, 34744978","entity_name":"ADGRV1","entity_type":"gene"},{"created":"2025-10-02T16:46:26.055065+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"2.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B9D1 were changed from Joubert syndrome 27, MIM# 617120; Meckel syndrome 9, MIM# 614209 to Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:46:08.872189+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"2.13","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliopathy, MONDO:0005308, B9D1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:45:30.979256+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.426","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Meckel syndrome 9, OMIM:614209; Joubert syndrome 27, MONDO:0014927 to Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"}]}