{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=311","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=309","results":[{"created":"2025-01-16T14:17:56.684025+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.997","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NKX6-2 were set to ","entity_name":"NKX6-2","entity_type":"gene"},{"created":"2025-01-16T14:17:21.691311+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.996","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NTRK1 as ready","entity_name":"NTRK1","entity_type":"gene"},{"created":"2025-01-16T14:17:21.681232+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.996","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ntrk1 has been classified as Green List (High Evidence).","entity_name":"NTRK1","entity_type":"gene"},{"created":"2025-01-16T14:17:17.659789+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.996","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NTRK1 were changed from Insensitivity to pain, congenital, with anhidrosis, 256800 (3) to Insensitivity to pain, congenital, with anhidrosis MIM#256800","entity_name":"NTRK1","entity_type":"gene"},{"created":"2025-01-16T14:17:04.996672+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.995","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NTRK1 were set to ","entity_name":"NTRK1","entity_type":"gene"},{"created":"2025-01-16T14:14:47.246493+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.994","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA0586 as ready","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2025-01-16T14:14:47.227696+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.994","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0586 has been classified as Green List (High Evidence).","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2025-01-16T14:14:43.461042+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.994","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive to Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546); Joubert syndrome 23 (MIM#616490)","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2025-01-16T14:14:29.162693+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.993","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIAA0586 were set to ","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2025-01-16T11:19:22.821719+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.305","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KDM6B as ready","entity_name":"KDM6B","entity_type":"gene"},{"created":"2025-01-16T11:19:22.812192+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.305","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm6b has been classified as Green List (High Evidence).","entity_name":"KDM6B","entity_type":"gene"},{"created":"2025-01-16T11:19:14.498367+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.305","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KDM6B as Green List (high evidence)","entity_name":"KDM6B","entity_type":"gene"},{"created":"2025-01-16T11:19:14.468440+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.305","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm6b has been classified as Green List (High Evidence).","entity_name":"KDM6B","entity_type":"gene"},{"created":"2025-01-16T11:19:02.052113+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.304","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KDM6B was added\ngene: KDM6B was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KDM6B were set to Stolerman neurodevelopmental syndrome, MIM#\t618505\nReview for gene: KDM6B was set to GREEN\nAdded comment: Well established gene-disease association. A proportion of individuals have congenital anomalies, including cleft palate, skeletal anomalies and congenital heart disease. \nSources: Expert Review","entity_name":"KDM6B","entity_type":"gene"},{"created":"2025-01-16T09:59:41.717883+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2258","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDX58 as ready","entity_name":"DDX58","entity_type":"gene"},{"created":"2025-01-16T09:59:41.707306+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2258","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: New HGNC approved name is RIGI.","entity_name":"DDX58","entity_type":"gene"},{"created":"2025-01-16T09:59:41.679926+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx58 has been classified as Green List (High Evidence).","entity_name":"DDX58","entity_type":"gene"},{"created":"2025-01-16T09:59:11.772795+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2258","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: DDX58.","entity_name":"DDX58","entity_type":"gene"},{"created":"2025-01-16T09:25:39.046354+11:00","panel_name":"Neuromuscular Superpanel","panel_id":4092,"panel_version":"3.342","user_name":"Bryony Thompson","item_type":"panel","text":"Changed child panels to: Hereditary Spastic Paraplegia - paediatric; Muscular dystrophy and myopathy_Paediatric; Hereditary Neuropathy_CMT - isolated; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Ataxia - paediatric; Motor Neurone Disease; Gastrointestinal neuromuscular disease; Hereditary Neuropathy - complex; Rhabdomyolysis and Metabolic Myopathy; Ataxia - adult onset; Hereditary Spastic Paraplegia - adult onset; Congenital Myasthenia; Skeletal Muscle Channelopathies","entity_name":null,"entity_type":null},{"created":"2025-01-16T09:02:21.152349+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: None; Publications: 26386044, 28125082, 36580738, 39063141; Phenotypes: Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546), Joubert syndrome 23 (MIM#616490); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2025-01-15T21:27:26.757063+11:00","panel_name":"Immune_markers_WTS_UMCCR","panel_id":243,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from public to retired","entity_name":null,"entity_type":null},{"created":"2025-01-15T16:31:49.308746+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRRC45 as ready","entity_name":"LRRC45","entity_type":"gene"},{"created":"2025-01-15T16:31:49.294126+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc45 has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC45","entity_type":"gene"},{"created":"2025-01-15T16:31:15.397886+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRRC45 as Amber List (moderate evidence)","entity_name":"LRRC45","entity_type":"gene"},{"created":"2025-01-15T16:31:15.363822+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc45 has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC45","entity_type":"gene"},{"created":"2025-01-15T16:30:11.954577+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRRC45 was added\ngene: LRRC45 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LRRC45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRC45 were set to 39638757\nPhenotypes for gene: LRRC45 were set to Neurodevelopmental disorder MONDO:0700092, LRRC45-related\nReview for gene: LRRC45 was set to AMBER\nAdded comment: Three individuals from two families reported with two homozygous variants, one splice site and the other missense. Features of a neurological ciliopathy with some supportive experimental evidence. \nSources: Literature","entity_name":"LRRC45","entity_type":"gene"},{"created":"2025-01-15T16:29:20.958595+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2258","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRRC45 as ready","entity_name":"LRRC45","entity_type":"gene"},{"created":"2025-01-15T16:29:20.945288+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc45 has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC45","entity_type":"gene"},{"created":"2025-01-15T16:29:04.471455+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2258","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRRC45 as Amber List (moderate evidence)","entity_name":"LRRC45","entity_type":"gene"},{"created":"2025-01-15T16:29:04.445334+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc45 has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC45","entity_type":"gene"},{"created":"2025-01-15T16:28:09.624537+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2257","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRRC45 was added\ngene: LRRC45 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LRRC45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRC45 were set to 39638757\nPhenotypes for gene: LRRC45 were set to Neurodevelopmental disorder MONDO:0700092, LRRC45-related\nReview for gene: LRRC45 was set to AMBER\nAdded comment: Three individuals from two families reported with two homozygous variants, one splice site and the other missense. Features of a neurological ciliopathy with some supportive experimental evidence. \nSources: Literature","entity_name":"LRRC45","entity_type":"gene"},{"created":"2025-01-15T16:24:06.179246+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WASHC3 as ready","entity_name":"WASHC3","entity_type":"gene"},{"created":"2025-01-15T16:24:06.154839+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: washc3 has been classified as Red List (Low Evidence).","entity_name":"WASHC3","entity_type":"gene"},{"created":"2025-01-15T16:23:55.868149+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2256","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WASHC3 as ready","entity_name":"WASHC3","entity_type":"gene"},{"created":"2025-01-15T16:23:55.855575+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2256","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: washc3 has been classified as Red List (Low Evidence).","entity_name":"WASHC3","entity_type":"gene"},{"created":"2025-01-15T16:23:48.766862+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WASHC3 was added\ngene: WASHC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: WASHC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: WASHC3 were set to DOI: https://doi.org/10.1016/j.gimo.2024.101915\nPhenotypes for gene: WASHC3 were set to neurodevelopmental disorder MONDO:0700092, WASHC3 related\nReview for gene: WASHC3 was set to RED\nAdded comment: One family with de novo missense. Two families with homozygous start loss variant. The functional evidence provided does not directly link to the human phenotype. Given two variants and two different MOIs, RED rating. \nSources: Literature","entity_name":"WASHC3","entity_type":"gene"},{"created":"2025-01-15T16:23:11.214964+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2256","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WASHC3 were changed from neurodevelopmental disorder MONDO:0700092 to neurodevelopmental disorder MONDO:0700092, WASHC3 related","entity_name":"WASHC3","entity_type":"gene"},{"created":"2025-01-15T16:22:51.055820+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2255","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WASHC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"WASHC3","entity_type":"gene"},{"created":"2025-01-15T16:22:26.651474+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2254","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WASHC3 as Red List (low evidence)","entity_name":"WASHC3","entity_type":"gene"},{"created":"2025-01-15T16:22:26.638150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2254","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: washc3 has been classified as Red List (Low Evidence).","entity_name":"WASHC3","entity_type":"gene"},{"created":"2025-01-15T16:22:06.825834+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2253","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WASHC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092, WASHC3 related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"WASHC3","entity_type":"gene"},{"created":"2025-01-15T16:18:23.474189+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.303","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LDB1 as ready","entity_name":"LDB1","entity_type":"gene"},{"created":"2025-01-15T16:18:23.452674+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.303","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ldb1 has been classified as Green List (High Evidence).","entity_name":"LDB1","entity_type":"gene"},{"created":"2025-01-15T16:18:15.989515+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.303","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LDB1 as Green List (high evidence)","entity_name":"LDB1","entity_type":"gene"},{"created":"2025-01-15T16:18:15.977353+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.303","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ldb1 has been classified as Green List (High Evidence).","entity_name":"LDB1","entity_type":"gene"},{"created":"2025-01-15T16:17:58.932826+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.302","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LDB1 was added\ngene: LDB1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: LDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LDB1 were set to 39680505\nPhenotypes for gene: LDB1 were set to Congenital hydrocephalus MONDO:0016349\nReview for gene: LDB1 was set to GREEN\nAdded comment: Exome-wide significant enrichment of LDB1 protein-altering de novo variants (p = 1.11 x 10-15) in a large cerebral ventriculomegaly cohort (>2,697 parent-proband trios). 8 unrelated cases with ventriculomegaly, developmental delay, and dysmorphic features with de novo variants (7 LoF variants truncate LDB1's carboxy-terminal LIM interaction domain & 1 missense). \nSources: Literature","entity_name":"LDB1","entity_type":"gene"},{"created":"2025-01-15T16:16:53.018193+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2253","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAV3 as ready","entity_name":"NAV3","entity_type":"gene"},{"created":"2025-01-15T16:16:53.004359+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2253","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nav3 has been classified as Green List (High Evidence).","entity_name":"NAV3","entity_type":"gene"},{"created":"2025-01-15T16:16:22.406471+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAV3 as ready","entity_name":"NAV3","entity_type":"gene"},{"created":"2025-01-15T16:16:22.379073+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nav3 has been classified as Green List (High Evidence).","entity_name":"NAV3","entity_type":"gene"},{"created":"2025-01-15T16:16:17.503194+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2253","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NAV3 as Green List (high evidence)","entity_name":"NAV3","entity_type":"gene"},{"created":"2025-01-15T16:16:17.483949+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2253","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nav3 has been classified as Green List (High Evidence).","entity_name":"NAV3","entity_type":"gene"},{"created":"2025-01-15T16:16:08.182115+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NAV3 as Green List (high evidence)","entity_name":"NAV3","entity_type":"gene"},{"created":"2025-01-15T16:16:08.171063+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nav3 has been classified as Green List (High Evidence).","entity_name":"NAV3","entity_type":"gene"},{"created":"2025-01-15T16:15:56.970161+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2252","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAV3 was added\ngene: NAV3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NAV3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAV3 were set to 39708122; 38977784\nPhenotypes for gene: NAV3 were set to Neurodevelopmental disorder, MONDO:0700092, NAV3-related\nReview for gene: NAV3 was set to GREEN\nAdded comment: 17 individuals from 11 families reported with bi-allelic variants and neurodevelopmental phenotypes, including DD/ID and behavioural abnormalities. \nSources: Literature","entity_name":"NAV3","entity_type":"gene"},{"created":"2025-01-15T16:15:15.541090+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAV3 was added\ngene: NAV3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NAV3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAV3 were set to 39708122; 38977784\nPhenotypes for gene: NAV3 were set to Neurodevelopmental disorder, MONDO:0700092, NAV3-related\nReview for gene: NAV3 was set to GREEN\nAdded comment: 17 individuals from 11 families reported with bi-allelic variants and neurodevelopmental phenotypes, including DD/ID and behavioural abnormalities. \nSources: Literature","entity_name":"NAV3","entity_type":"gene"},{"created":"2025-01-15T16:07:33.111210+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EEFSEC as ready","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:07:33.100073+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eefsec has been classified as Green List (High Evidence).","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:07:28.520189+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EEFSEC as Green List (high evidence)","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:07:28.508803+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eefsec has been classified as Green List (High Evidence).","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:06:03.213238+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EEFSEC was added\ngene: EEFSEC was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EEFSEC were set to 39753114\nPhenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related\nReview for gene: EEFSEC was set to GREEN\nAdded comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms. \nSources: Literature","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:04:45.079959+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EEFSEC as ready","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:04:45.061640+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eefsec has been classified as Green List (High Evidence).","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:04:39.333183+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EEFSEC as Green List (high evidence)","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:04:39.318203+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eefsec has been classified as Green List (High Evidence).","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:03:31.108686+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EEFSEC as ready","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:03:31.098988+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eefsec has been classified as Green List (High Evidence).","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:03:26.353554+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EEFSEC as Green List (high evidence)","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:03:26.338094+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eefsec has been classified as Green List (High Evidence).","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:03:16.071880+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EEFSEC was added\ngene: EEFSEC was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EEFSEC were set to 39753114\nPhenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related\nReview for gene: EEFSEC was set to GREEN\nAdded comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms. \nSources: Literature","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:02:50.952933+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EEFSEC was added\ngene: EEFSEC was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EEFSEC were set to 39753114\nPhenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related\nReview for gene: EEFSEC was set to GREEN\nAdded comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms. \nSources: Literature","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:01:30.855107+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.572","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EEFSEC as Green List (high evidence)","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:01:30.843847+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.572","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eefsec has been classified as Green List (High Evidence).","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:01:08.351582+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.572","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EEFSEC as ready","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:01:08.338422+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.572","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eefsec has been classified as Green List (High Evidence).","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:00:59.795722+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.572","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EEFSEC as Green List (high evidence)","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:00:59.780199+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.572","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eefsec has been classified as Green List (High Evidence).","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:00:33.831073+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2251","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EEFSEC as ready","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:00:33.807978+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2251","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eefsec has been classified as Green List (High Evidence).","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:00:07.765464+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.571","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EEFSEC was added\ngene: EEFSEC was added to Regression. Sources: Literature\nMode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EEFSEC were set to 39753114\nPhenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related\nReview for gene: EEFSEC was set to GREEN\nAdded comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms. \nSources: Literature","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:00:03.625186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2251","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EEFSEC as Green List (high evidence)","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T16:00:03.589831+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2251","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eefsec has been classified as Green List (High Evidence).","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T15:59:36.344970+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2250","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EEFSEC was added\ngene: EEFSEC was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EEFSEC were set to 39753114\nPhenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related\nReview for gene: EEFSEC was set to GREEN\nAdded comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms. \nSources: Literature","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T15:57:49.160692+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EEFSEC as ready","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T15:57:49.146732+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eefsec has been classified as Green List (High Evidence).","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T15:57:43.442231+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EEFSEC as Green List (high evidence)","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T15:57:43.428181+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eefsec has been classified as Green List (High Evidence).","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T15:57:09.984802+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EEFSEC was added\ngene: EEFSEC was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EEFSEC were set to 39753114\nPhenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related\nReview for gene: EEFSEC was set to GREEN\nAdded comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy.  In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms. \nSources: Literature","entity_name":"EEFSEC","entity_type":"gene"},{"created":"2025-01-15T15:41:47.600374+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAP3 as ready","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:41:47.585531+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dap3 has been classified as Green List (High Evidence).","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:41:43.746046+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAP3 as Green List (high evidence)","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:41:43.716836+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dap3 has been classified as Green List (High Evidence).","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:41:32.147514+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DAP3 was added\ngene: DAP3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAP3 were set to 39701103\nPhenotypes for gene: DAP3 were set to Mitochondrial disease MONDO:0044970, DAP3-related\nReview for gene: DAP3 was set to GREEN\nAdded comment: DAP3 encodes the mitoribosomal small subunit 29 (MRPS29). Five unrelated individuals reported with bi-allelic variants in DAP3 and variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory-chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein amounts and, consequently, decreased levels of additional protein components of the mitoribosomal small subunit, as well as an associated combined deficiency of complexes I and IV. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression and partially rescued protein levels of MRPS7, MRPS9, and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants. \nSources: Literature","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:39:20.337735+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.210","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAP3 as ready","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:39:20.315676+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dap3 has been classified as Green List (High Evidence).","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:39:13.684178+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.210","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAP3 as Green List (high evidence)","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:39:13.672166+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dap3 has been classified as Green List (High Evidence).","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:38:20.520725+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.209","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DAP3 was added\ngene: DAP3 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAP3 were set to 39701103\nPhenotypes for gene: DAP3 were set to Mitochondrial disease MONDO:0044970, DAP3-related\nReview for gene: DAP3 was set to GREEN\nAdded comment: DAP3 encodes the mitoribosomal small subunit 29 (MRPS29). Five unrelated individuals reported with bi-allelic variants in DAP3 and variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory-chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein amounts and, consequently, decreased levels of additional protein components of the mitoribosomal small subunit, as well as an associated combined deficiency of complexes I and IV. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression and partially rescued protein levels of MRPS7, MRPS9, and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants. \nSources: Literature","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:38:18.003541+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAP3 as ready","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:38:17.972449+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dap3 has been classified as Green List (High Evidence).","entity_name":"DAP3","entity_type":"gene"}]}