{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=181","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=179","results":[{"created":"2025-09-01T17:38:10.925540+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.267","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:37:39.915783+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TP63 as ready","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:37:39.904106+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tp63 has been classified as Green List (High Evidence).","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:37:37.373208+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TP63 were set to 31332722","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:37:28.779708+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TP63 were changed from Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome to TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:37:17.164686+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TP63: Changed phenotypes: TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:36:56.598455+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TP63 as ready","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:36:56.588331+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tp63 has been classified as Green List (High Evidence).","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:36:54.142722+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TP63 were changed from Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome to TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:36:40.866206+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:36:13.474921+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TP63 as ready","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:36:13.461329+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tp63 has been classified as Green List (High Evidence).","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:36:11.082482+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TP63 were changed from Hay-Wells syndrome 106260; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292; Limb-mammary syndrome 603543; Rapp-Hodgkin syndrome 129400; Orofacial cleft 8 129400; ULT syndrome 103285; Split-hand/foot malformation 4 605289 to TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:35:44.291940+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TP63 were set to ","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:35:11.174969+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TP63: Changed phenotypes: TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:34:49.471207+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.250","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TP63 were changed from ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289 to TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:34:19.983837+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.249","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TP63: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:34:00.895604+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TP63 were changed from Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; lymphopaenia to TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:33:36.806982+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TP63: Changed phenotypes: TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:33:15.380001+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2933","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TP63 were changed from ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289 to TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001; Premature ovarian failure 21, MIM#620311","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:32:53.882461+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2932","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TP63: Added comment: DEFINITIVE by ClinGen.\r\n\r\nLumped EEC3 syndrome (MIM:604292), ADULT syndrome (MIM:103285), AEC syndrome (MIM:106260), Rapp-Hodgkin syndrome (MIM:129400), Limb-mammary syndrome (MIM:603543), Split-hand/foot malformation 4 (MIM:605289), and Orofacial cleft 8 (MIM:618149).\r\n\r\nAssociation with POF considered separate.; Changed phenotypes: TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001, Premature ovarian failure 21, MIM#620311","entity_name":"TP63","entity_type":"gene"},{"created":"2025-09-01T17:22:46.984334+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.323","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOMM70 were changed from White matter abnormalities; Developmental delay; Regression; Movement disorder to Leukodystrophy, MONDO:0019046, TOMM70-related","entity_name":"TOMM70","entity_type":"gene"},{"created":"2025-09-01T17:22:31.890362+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TOMM70: Changed phenotypes: Leukodystrophy, MONDO:0019046, TOMM70-related","entity_name":"TOMM70","entity_type":"gene"},{"created":"2025-09-01T17:22:14.042831+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.994","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOMM70 were changed from Severe anaemia; Lactic acidosis; Developmental delay to Mitochondrial disease, MONDO:0044970, TOMM70-related","entity_name":"TOMM70","entity_type":"gene"},{"created":"2025-09-01T17:21:47.430281+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.993","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TOMM70: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TOMM70-related","entity_name":"TOMM70","entity_type":"gene"},{"created":"2025-09-01T17:21:20.363794+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2932","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOMM70 were changed from Severe anaemia, lactic acidosis, developmental delay; White matter abnormalities, developmental delay, regression, movement disorder to Mitochondrial disease, MONDO:0044970, TOMM70-related; Leukodystrophy, MONDO:0019046, TOMM70-related","entity_name":"TOMM70","entity_type":"gene"},{"created":"2025-09-01T17:21:01.080511+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2931","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TOMM70: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TOMM70-related, Leukodystrophy, MONDO:0019046, TOMM70-related","entity_name":"TOMM70","entity_type":"gene"},{"created":"2025-09-01T17:06:44.099973+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2931","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARNTL as ready","entity_name":"ARNTL","entity_type":"gene"},{"created":"2025-09-01T17:06:44.089891+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2931","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arntl has been classified as Green List (High Evidence).","entity_name":"ARNTL","entity_type":"gene"},{"created":"2025-09-01T17:05:25.564647+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2931","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARNTL as Green List (high evidence)","entity_name":"ARNTL","entity_type":"gene"},{"created":"2025-09-01T17:05:25.552972+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2931","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arntl has been classified as Green List (High Evidence).","entity_name":"ARNTL","entity_type":"gene"},{"created":"2025-09-01T17:04:50.137020+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2930","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ARNTL.","entity_name":"ARNTL","entity_type":"gene"},{"created":"2025-09-01T17:04:34.546757+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARNTL as ready","entity_name":"ARNTL","entity_type":"gene"},{"created":"2025-09-01T17:04:34.535154+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arntl has been classified as Green List (High Evidence).","entity_name":"ARNTL","entity_type":"gene"},{"created":"2025-09-01T17:04:28.927369+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.249","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARNTL as Green List (high evidence)","entity_name":"ARNTL","entity_type":"gene"},{"created":"2025-09-01T17:04:28.917069+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arntl has been classified as Green List (High Evidence).","entity_name":"ARNTL","entity_type":"gene"},{"created":"2025-09-01T17:04:05.755517+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.248","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ARNTL.","entity_name":"ARNTL","entity_type":"gene"},{"created":"2025-09-01T17:03:10.331574+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2930","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSMD3 as ready","entity_name":"CSMD3","entity_type":"gene"},{"created":"2025-09-01T17:03:10.320642+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2930","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csmd3 has been classified as Green List (High Evidence).","entity_name":"CSMD3","entity_type":"gene"},{"created":"2025-09-01T17:03:02.962875+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2930","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSMD3 as Green List (high evidence)","entity_name":"CSMD3","entity_type":"gene"},{"created":"2025-09-01T17:03:02.951799+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2930","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csmd3 has been classified as Green List (High Evidence).","entity_name":"CSMD3","entity_type":"gene"},{"created":"2025-09-01T17:02:46.094504+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.188","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSMD3 as ready","entity_name":"CSMD3","entity_type":"gene"},{"created":"2025-09-01T17:02:46.083563+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csmd3 has been classified as Green List (High Evidence).","entity_name":"CSMD3","entity_type":"gene"},{"created":"2025-09-01T17:02:40.935726+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.188","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSMD3 as Green List (high evidence)","entity_name":"CSMD3","entity_type":"gene"},{"created":"2025-09-01T17:02:40.924950+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csmd3 has been classified as Green List (High Evidence).","entity_name":"CSMD3","entity_type":"gene"},{"created":"2025-09-01T17:01:31.257226+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2929","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMPRSS7 as ready","entity_name":"TMPRSS7","entity_type":"gene"},{"created":"2025-09-01T17:01:31.245941+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2929","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmprss7 has been classified as Red List (Low Evidence).","entity_name":"TMPRSS7","entity_type":"gene"},{"created":"2025-09-01T17:01:23.704503+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2929","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMPRSS7 was added\ngene: TMPRSS7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMPRSS7 were set to 40796295\nPhenotypes for gene: TMPRSS7 were set to Neurodevelopmental disorder, TMPRSS7-related\nReview for gene: TMPRSS7 was set to RED\nAdded comment: PMID 40796295: individual with compound het variants, p.R479H and p.S685Kfs*26 and neurodevelopmental disorder. Tmprss7 homozygous knockout (KO) mice exhibited dysregulated synaptic dendritic spine density, function, and dendritic elongation in the cerebral cortex and hippocampus. In addition, the KO animals displayed neurobehavioral deficits, including impairments in spatial learning, anxiety-like behavior, and a reduced preference for social novelty. Multi-omics analysis discovered enrichment of pathways related to synaptic signaling disruptions in both the cerebral cortex and hippocampus. \nSources: Literature","entity_name":"TMPRSS7","entity_type":"gene"},{"created":"2025-09-01T17:00:20.104217+10:00","panel_name":"Genomic newborn screening: BabyScreen+","panel_id":3931,"panel_version":"1.136","user_name":"Lilian Downie","item_type":"entity","text":"commented on gene: TNFSF11: This type of osteopetrosis is particularly difficult to treat PMID: 36031188","entity_name":"TNFSF11","entity_type":"gene"},{"created":"2025-09-01T17:00:08.335646+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.248","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMPRSS7 was added\ngene: TMPRSS7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMPRSS7 were set to 40796295\nPhenotypes for gene: TMPRSS7 were set to Neurodevelopmental disorder, TMPRSS7-related\nReview for gene: TMPRSS7 was set to RED\nAdded comment: PMID 40796295: individual with compound het variants, p.R479H and p.S685Kfs*26 and neurodevelopmental disorder. Tmprss7 homozygous knockout (KO) mice exhibited dysregulated synaptic dendritic spine density, function, and dendritic elongation in the cerebral cortex and hippocampus. In addition, the KO animals displayed neurobehavioral deficits, including impairments in spatial learning, anxiety-like behavior, and a reduced preference for social novelty. Multi-omics analysis discovered enrichment of pathways related to synaptic signaling disruptions in both the cerebral cortex and hippocampus. \nSources: Literature","entity_name":"TMPRSS7","entity_type":"gene"},{"created":"2025-09-01T16:56:39.131195+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.247","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP1R2 as ready","entity_name":"PPP1R2","entity_type":"gene"},{"created":"2025-09-01T16:56:39.121020+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.247","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r2 has been classified as Red List (Low Evidence).","entity_name":"PPP1R2","entity_type":"gene"},{"created":"2025-09-01T16:56:32.181054+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.247","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPP1R2 was added\ngene: PPP1R2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PPP1R2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPP1R2 were set to 40597352; 26558779\nPhenotypes for gene: PPP1R2 were set to Neurodevelopmental disorder, PPP1R2-related\nReview for gene: PPP1R2 was set to RED\nAdded comment: Single individual reported with homozygous splicing variant c.403 + 3 A >T. Abnormal splicing demonstrated but leaky. Clinical features included pre and postnatal growth restriction, ventricular septal defect, dysmorphic features (proptosis, long eye lashes, thick eyebrows, low-set ears), microcephaly, sensorineural hearing loss, cortical cataracts, retinal defects, intellectual disability with limited speech, and autism spectrum disorder. Note mouse model is embryonically lethal, leading the authors to speculate survival may be due to fraction of normally spliced transcripts. \nSources: Literature","entity_name":"PPP1R2","entity_type":"gene"},{"created":"2025-09-01T16:55:23.316177+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2928","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPP1R2 was added\ngene: PPP1R2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPP1R2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPP1R2 were set to 40597352; 26558779\nPhenotypes for gene: PPP1R2 were set to Neurodevelopmental disorder, PPP1R2-related\nReview for gene: PPP1R2 was set to RED\nAdded comment: Single individual reported with homozygous splicing variant c.403 + 3 A >T. Abnormal splicing demonstrated but leaky. Clinical features included pre and postnatal growth restriction, ventricular septal defect, dysmorphic features (proptosis, long eye lashes, thick eyebrows, low-set ears), microcephaly, sensorineural hearing loss, cortical cataracts, retinal defects, intellectual disability with limited speech, and autism spectrum disorder. Note mouse model is embryonically lethal, leading the authors to speculate survival may be due to fraction of normally spliced transcripts. \nSources: Literature","entity_name":"PPP1R2","entity_type":"gene"},{"created":"2025-09-01T16:50:32.940512+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BORCS5 as ready","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:50:32.929192+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:50:29.649789+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BORCS5 as Green List (high evidence)","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:50:29.638399+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:50:06.126772+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BORCS5 was added\ngene: BORCS5 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS5 were set to 40385417\nPhenotypes for gene: BORCS5 were set to Lysosomal storage disease, MONDO:0002561, BORCS5-related\nReview for gene: BORCS5 was set to GREEN\nAdded comment: preprint PMID 40385417, describing 12 individuals from 7 families with a spectrum of abnormalities (osteopetrosis not mentioned), suggestive of lysosomal disorder.\r\n\r\nHomozygous loss-of-function variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, and neuropathological evidence of diffuse neuroaxonal dystrophy. Individuals with missense variants presented differently, with microcephaly, developmental epileptic encephalopathy, intellectual disability, optic atrophy, spasticity, and progressive movement disorders. In this group, brain MRI showed diffuse hypomyelination and progressive global cerebral atrophy, consistent with neurodegeneration. Borcs5 knockout in zebrafish exhibited microcephaly, motor deficits, and seizures, mirroring the patients' clinical presentation. At the cellular level, BORCS5 loss-of-function but not missense variants, resulted in lower protein expression and impaired BORC assembly, paralleled by perinuclear lysosomal clustering. However, both loss-of-function and missense BORCS5 variants were associated with reduced total lysosomal proteolysis, reduced activity of the lysosomal hydrolases glucocerebrosidase and cathepsin B, and presence of multilamellar bodies, indicating lysosomal dysfunction. \nSources: Literature","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:49:35.796304+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.323","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BORCS5 as ready","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:49:35.785636+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.323","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:47:55.333316+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BORCS5 as ready","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:47:55.326232+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:47:51.270462+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.187","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BORCS5 as Green List (high evidence)","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:47:51.260141+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:47:19.321950+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.186","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BORCS5 was added\ngene: BORCS5 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS5 were set to 40385417\nPhenotypes for gene: BORCS5 were set to Lysosomal storage disease, MONDO:0002561, BORCS5-related\nReview for gene: BORCS5 was set to GREEN\nAdded comment: preprint PMID 40385417, describing 12 individuals from 7 families with a spectrum of abnormalities (osteopetrosis not mentioned), suggestive of lysosomal disorder.\r\n\r\nHomozygous loss-of-function variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, and neuropathological evidence of diffuse neuroaxonal dystrophy. Individuals with missense variants presented differently, with microcephaly, developmental epileptic encephalopathy, intellectual disability, optic atrophy, spasticity, and progressive movement disorders. In this group, brain MRI showed diffuse hypomyelination and progressive global cerebral atrophy, consistent with neurodegeneration. Borcs5 knockout in zebrafish exhibited microcephaly, motor deficits, and seizures, mirroring the patients' clinical presentation. At the cellular level, BORCS5 loss-of-function but not missense variants, resulted in lower protein expression and impaired BORC assembly, paralleled by perinuclear lysosomal clustering. However, both loss-of-function and missense BORCS5 variants were associated with reduced total lysosomal proteolysis, reduced activity of the lysosomal hydrolases glucocerebrosidase and cathepsin B, and presence of multilamellar bodies, indicating lysosomal dysfunction. \nSources: Literature","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:47:19.307873+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.323","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BORCS5 as Green List (high evidence)","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:47:19.295575+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.323","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:46:07.504631+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.322","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BORCS5 was added\ngene: BORCS5 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS5 were set to 40385417\nPhenotypes for gene: BORCS5 were set to Lysosomal storage disease, MONDO:0002561, BORCS5-related\nReview for gene: BORCS5 was set to GREEN\nAdded comment: preprint PMID 40385417, describing 12 individuals from 7 families with a spectrum of abnormalities (osteopetrosis not mentioned), suggestive of lysosomal disorder.\r\n\r\nHomozygous loss-of-function variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, and neuropathological evidence of diffuse neuroaxonal dystrophy. Individuals with missense variants presented differently, with microcephaly, developmental epileptic encephalopathy, intellectual disability, optic atrophy, spasticity, and progressive movement disorders. In this group, brain MRI showed diffuse hypomyelination and progressive global cerebral atrophy, consistent with neurodegeneration. Borcs5 knockout in zebrafish exhibited microcephaly, motor deficits, and seizures, mirroring the patients' clinical presentation. At the cellular level, BORCS5 loss-of-function but not missense variants, resulted in lower protein expression and impaired BORC assembly, paralleled by perinuclear lysosomal clustering. However, both loss-of-function and missense BORCS5 variants were associated with reduced total lysosomal proteolysis, reduced activity of the lysosomal hydrolases glucocerebrosidase and cathepsin B, and presence of multilamellar bodies, indicating lysosomal dysfunction. \nSources: Literature","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:45:35.864668+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.400","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BORCS5 as ready","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:45:35.842924+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.400","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:44:49.849592+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.424","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BORCS5 as ready","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:44:49.835673+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.424","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:44:46.499974+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.424","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BORCS5 as Green List (high evidence)","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:44:46.490070+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.424","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:44:41.089025+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.400","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BORCS5 as Green List (high evidence)","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:44:41.078218+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.400","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:44:21.294049+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.399","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BORCS5 was added\ngene: BORCS5 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS5 were set to 40385417\nPhenotypes for gene: BORCS5 were set to Lysosomal storage disease, MONDO:0002561, BORCS5-related\nReview for gene: BORCS5 was set to GREEN\nAdded comment: preprint PMID 40385417, describing 12 individuals from 7 families with a spectrum of abnormalities (osteopetrosis not mentioned), suggestive of lysosomal disorder.\r\n\r\nHomozygous loss-of-function variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, and neuropathological evidence of diffuse neuroaxonal dystrophy. Individuals with missense variants presented differently, with microcephaly, developmental epileptic encephalopathy, intellectual disability, optic atrophy, spasticity, and progressive movement disorders. In this group, brain MRI showed diffuse hypomyelination and progressive global cerebral atrophy, consistent with neurodegeneration. Borcs5 knockout in zebrafish exhibited microcephaly, motor deficits, and seizures, mirroring the patients' clinical presentation. At the cellular level, BORCS5 loss-of-function but not missense variants, resulted in lower protein expression and impaired BORC assembly, paralleled by perinuclear lysosomal clustering. However, both loss-of-function and missense BORCS5 variants were associated with reduced total lysosomal proteolysis, reduced activity of the lysosomal hydrolases glucocerebrosidase and cathepsin B, and presence of multilamellar bodies, indicating lysosomal dysfunction. \nSources: Literature","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:43:33.555756+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.423","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BORCS5 was added\ngene: BORCS5 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS5 were set to 40385417\nPhenotypes for gene: BORCS5 were set to Lysosomal storage disease, MONDO:0002561, BORCS5-related\nReview for gene: BORCS5 was set to GREEN\nAdded comment: preprint PMID 40385417, describing 12 individuals from 7 families with a spectrum of abnormalities (osteopetrosis not mentioned), suggestive of lysosomal disorder.\r\n\r\nHomozygous loss-of-function variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, and neuropathological evidence of diffuse neuroaxonal dystrophy. Individuals with missense variants presented differently, with microcephaly, developmental epileptic encephalopathy, intellectual disability, optic atrophy, spasticity, and progressive movement disorders. In this group, brain MRI showed diffuse hypomyelination and progressive global cerebral atrophy, consistent with neurodegeneration. Borcs5 knockout in zebrafish exhibited microcephaly, motor deficits, and seizures, mirroring the patients' clinical presentation. At the cellular level, BORCS5 loss-of-function but not missense variants, resulted in lower protein expression and impaired BORC assembly, paralleled by perinuclear lysosomal clustering. However, both loss-of-function and missense BORCS5 variants were associated with reduced total lysosomal proteolysis, reduced activity of the lysosomal hydrolases glucocerebrosidase and cathepsin B, and presence of multilamellar bodies, indicating lysosomal dysfunction. \nSources: Literature","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:42:13.756265+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2927","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BORCS5 as ready","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:42:13.749098+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2927","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:42:07.454304+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2927","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BORCS5 as Green List (high evidence)","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:42:07.443948+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2927","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:41:54.359787+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2926","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BORCS5 was added\ngene: BORCS5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS5 were set to 40385417\nPhenotypes for gene: BORCS5 were set to Lysosomal storage disease, MONDO:0002561, BORCS5-related\nReview for gene: BORCS5 was set to GREEN\nAdded comment: preprint PMID 40385417, describing 12 individuals from 7 families with a spectrum of abnormalities (osteopetrosis not mentioned), suggestive of lysosomal disorder.\r\n\r\nHomozygous loss-of-function variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, and neuropathological evidence of diffuse neuroaxonal dystrophy. Individuals with missense variants presented differently, with microcephaly, developmental epileptic encephalopathy, intellectual disability, optic atrophy, spasticity, and progressive movement disorders. In this group, brain MRI showed diffuse hypomyelination and progressive global cerebral atrophy, consistent with neurodegeneration. Borcs5 knockout in zebrafish exhibited microcephaly, motor deficits, and seizures, mirroring the patients' clinical presentation. At the cellular level, BORCS5 loss-of-function but not missense variants, resulted in lower protein expression and impaired BORC assembly, paralleled by perinuclear lysosomal clustering. However, both loss-of-function and missense BORCS5 variants were associated with reduced total lysosomal proteolysis, reduced activity of the lysosomal hydrolases glucocerebrosidase and cathepsin B, and presence of multilamellar bodies, indicating lysosomal dysfunction. \nSources: Literature","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:41:37.616043+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BORCS5 as ready","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:41:37.605567+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:40:44.872615+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BORCS5 as Green List (high evidence)","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:40:44.856080+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:40:26.253909+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BORCS5 was added\ngene: BORCS5 was added to Regression. Sources: Literature\nMode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS5 were set to 40385417\nPhenotypes for gene: BORCS5 were set to Lysosomal storage disease, MONDO:0002561, BORCS5-related\nReview for gene: BORCS5 was set to GREEN\nAdded comment: preprint PMID 40385417, describing 12 individuals from 7 families with a spectrum of abnormalities (osteopetrosis not mentioned), suggestive of lysosomal disorder.\r\n\r\nHomozygous loss-of-function variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, and neuropathological evidence of diffuse neuroaxonal dystrophy. Individuals with missense variants presented differently, with microcephaly, developmental epileptic encephalopathy, intellectual disability, optic atrophy, spasticity, and progressive movement disorders. In this group, brain MRI showed diffuse hypomyelination and progressive global cerebral atrophy, consistent with neurodegeneration. Borcs5 knockout in zebrafish exhibited microcephaly, motor deficits, and seizures, mirroring the patients' clinical presentation. At the cellular level, BORCS5 loss-of-function but not missense variants, resulted in lower protein expression and impaired BORC assembly, paralleled by perinuclear lysosomal clustering. However, both loss-of-function and missense BORCS5 variants were associated with reduced total lysosomal proteolysis, reduced activity of the lysosomal hydrolases glucocerebrosidase and cathepsin B, and presence of multilamellar bodies, indicating lysosomal dysfunction. \nSources: Literature","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:39:13.596393+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.246","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BORCS5 as ready","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:39:13.585797+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.246","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:39:07.740281+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.246","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BORCS5 as Green List (high evidence)","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:39:07.730060+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.246","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:38:42.916112+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.245","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BORCS5 was added\ngene: BORCS5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS5 were set to 40385417\nPhenotypes for gene: BORCS5 were set to Lysosomal storage disease, MONDO:0002561, BORCS5-related\nReview for gene: BORCS5 was set to GREEN\nAdded comment: preprint PMID 40385417, describing 12 individuals from 7 families with a spectrum of abnormalities (osteopetrosis not mentioned), suggestive of lysosomal disorder.\r\n\r\nHomozygous loss-of-function variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, and neuropathological evidence of diffuse neuroaxonal dystrophy. Individuals with missense variants presented differently, with microcephaly, developmental epileptic encephalopathy, intellectual disability, optic atrophy, spasticity, and progressive movement disorders. In this group, brain MRI showed diffuse hypomyelination and progressive global cerebral atrophy, consistent with neurodegeneration. Borcs5 knockout in zebrafish exhibited microcephaly, motor deficits, and seizures, mirroring the patients' clinical presentation. At the cellular level, BORCS5 loss-of-function but not missense variants, resulted in lower protein expression and impaired BORC assembly, paralleled by perinuclear lysosomal clustering. However, both loss-of-function and missense BORCS5 variants were associated with reduced total lysosomal proteolysis, reduced activity of the lysosomal hydrolases glucocerebrosidase and cathepsin B, and presence of multilamellar bodies, indicating lysosomal dysfunction. \nSources: Literature","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:37:17.294198+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BORCS5 as ready","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:37:17.283756+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:37:14.117790+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BORCS5 as Green List (high evidence)","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:37:14.106661+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: borcs5 has been classified as Green List (High Evidence).","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:36:48.803109+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BORCS5 was added\ngene: BORCS5 was added to Lysosomal Storage Disorder. Sources: Literature\nMode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BORCS5 were set to 40385417\nPhenotypes for gene: BORCS5 were set to Lysosomal storage disease, MONDO:0002561, BORCS5-related\nReview for gene: BORCS5 was set to GREEN\nAdded comment: preprint PMID 40385417, describing 12 individuals from 7 families with a spectrum of abnormalities (osteopetrosis not mentioned), suggestive of lysosomal disorder.\r\n\r\nHomozygous loss-of-function variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, and neuropathological evidence of diffuse neuroaxonal dystrophy. Individuals with missense variants presented differently, with microcephaly, developmental epileptic encephalopathy, intellectual disability, optic atrophy, spasticity, and progressive movement disorders. In this group, brain MRI showed diffuse hypomyelination and progressive global cerebral atrophy, consistent with neurodegeneration. Borcs5 knockout in zebrafish exhibited microcephaly, motor deficits, and seizures, mirroring the patients' clinical presentation. At the cellular level, BORCS5 loss-of-function but not missense variants, resulted in lower protein expression and impaired BORC assembly, paralleled by perinuclear lysosomal clustering. However, both loss-of-function and missense BORCS5 variants were associated with reduced total lysosomal proteolysis, reduced activity of the lysosomal hydrolases glucocerebrosidase and cathepsin B, and presence of multilamellar bodies, indicating lysosomal dysfunction. \nSources: Literature","entity_name":"BORCS5","entity_type":"gene"},{"created":"2025-09-01T16:36:08.172595+10:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BORCS5 as ready","entity_name":"BORCS5","entity_type":"gene"}]}