{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=314","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=312","results":[{"created":"2025-01-08T10:38:42.647355+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 20301592, 35842891; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MIM#201750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"POR","entity_type":"gene"},{"created":"2025-01-07T13:59:36.867672+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25865492, 27130255; Phenotypes: Leukodystrophy, hypomyelinating 10 (MIM# 616420); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PYCR2","entity_type":"gene"},{"created":"2025-01-07T13:48:41.655899+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25808372, 26657514, 33272776, 30617178; Phenotypes: Spinocerebellar ataxia 2 (MIM# 213200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PMPCA","entity_type":"gene"},{"created":"2025-01-07T13:44:07.241403+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 1896471, 9160692, 9057665, 16704447, 9090535, 32702739; Phenotypes: Pyruvate Kinase deficiency (MIM# 266200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PKLR","entity_type":"gene"},{"created":"2025-01-07T13:38:21.745127+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30976099, 25943031, 24906948, 24906948, 24906948, 28728837, 28728837, 28728837; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PIGT","entity_type":"gene"},{"created":"2025-01-07T13:20:32.418270+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18174396, 12210304, 30922925, 33460028, 32557621, 32267100; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PCNT","entity_type":"gene"},{"created":"2025-01-07T13:14:38.445820+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PCDH12","entity_type":"gene"},{"created":"2025-01-07T13:10:17.544315+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"changed review comment from: - Well-established gene disease association\r\n- Age of onset: neonatal to early childhood\r\n- Severity: variable severity - three subtypes\r\n\r\n1. Type A (infantile form aka North American form): characterized by infantile onset of metabolic and lactic acidosis, delayed motor development, intellectual disability, poor linear growth and/or weight gain, and neurologic findings. Brain anomalies can be noted. Most affected children die in infancy or early childhood.\r\n\r\n2. Type B (severe neonatal form aka French form): characterized by neonatal or infantile onset of hypothermia, respiratory distress/failure, vomiting, severe lactic acidosis, hyperammonemia, and often hypoglycemia. Neurologic findings include brain abnormalities, lethargy, hypotonia, and pyramidal and extrapyramidal signs. Death typically occurs by age eight months.\r\n\r\n3. Type C (intermittent/attenuated form aka Benign form): characterized by relatively normal or mildly delayed neurologic\r\ndevelopment, motor and/or gait abnormalities, (rarely) seizures, episodic movement disorders, and metabolic\r\nacidosis. Life span is unknown but survival into adulthood has been reported.; to: - Well-established gene disease association\r\n- Age of onset: neonatal to early childhood\r\n- Severity: variable severity - three subtypes\r\n\r\n1. Type A (infantile form aka North American form): characterized by infantile onset of metabolic and lactic acidosis, delayed motor development, intellectual disability, poor linear growth and/or weight gain, and neurologic findings. Brain anomalies can be noted. Most affected children die in infancy or early childhood.\r\n\r\n2. Type B (severe neonatal form aka French form): characterized by neonatal or infantile onset of hypothermia, respiratory distress/failure, vomiting, severe lactic acidosis, hyperammonemia, and often hypoglycemia. Neurologic findings include brain abnormalities, lethargy, hypotonia, and pyramidal and extrapyramidal signs. Death typically occurs by age eight months.\r\n\r\n3. Type C (intermittent/attenuated form aka Benign form): characterized by relatively normal or mildly delayed neurologic development, motor and/or gait abnormalities, (rarely) seizures, episodic movement disorders, and metabolic acidosis. Life span is unknown but survival into adulthood has been reported.","entity_name":"PC","entity_type":"gene"},{"created":"2025-01-07T13:09:56.397848+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: 9585612, 12112657, 20301764; Phenotypes: Pyruvate carboxylase deficiency (MIM#266150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PC","entity_type":"gene"},{"created":"2025-01-07T11:19:22.670745+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARID1B as Green List (high evidence)","entity_name":"ARID1B","entity_type":"gene"},{"created":"2025-01-07T11:19:22.657417+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arid1b has been classified as Green List (High Evidence).","entity_name":"ARID1B","entity_type":"gene"},{"created":"2025-01-07T11:14:50.945834+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.126","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARID1B was added\ngene: ARID1B was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARID1B were set to 39680505\nPhenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1 MONDO:0007617\nReview for gene: ARID1B was set to GREEN\nAdded comment: 13 de novo variants were identified in unrelated children (p = 1.80e-17) from a large cerebral ventriculomegaly cohort, including nine LoF variants. Other syndromic features were common. \nSources: Literature","entity_name":"ARID1B","entity_type":"gene"},{"created":"2025-01-07T11:07:12.963499+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LDB1 as ready","entity_name":"LDB1","entity_type":"gene"},{"created":"2025-01-07T11:07:12.948925+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ldb1 has been classified as Green List (High Evidence).","entity_name":"LDB1","entity_type":"gene"},{"created":"2025-01-07T11:07:06.706731+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LDB1 as Green List (high evidence)","entity_name":"LDB1","entity_type":"gene"},{"created":"2025-01-07T11:07:06.686452+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ldb1 has been classified as Green List (High Evidence).","entity_name":"LDB1","entity_type":"gene"},{"created":"2025-01-07T11:06:05.284817+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.124","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LDB1 was added\ngene: LDB1 was added to Hydrocephalus_Ventriculomegaly. 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":"2025-01-07T11:03:32.290578+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2237","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LDB1 as ready","entity_name":"LDB1","entity_type":"gene"},{"created":"2025-01-07T11:03:32.269184+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2237","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ldb1 has been classified as Green List (High Evidence).","entity_name":"LDB1","entity_type":"gene"},{"created":"2025-01-07T10:59:59.306779+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2237","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LDB1 as Green List (high evidence)","entity_name":"LDB1","entity_type":"gene"},{"created":"2025-01-07T10:59:59.292520+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2237","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ldb1 has been classified as Green List (High Evidence).","entity_name":"LDB1","entity_type":"gene"},{"created":"2025-01-07T10:57:48.012290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2236","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LDB1 was added\ngene: LDB1 was added to Mendeliome. 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":"2025-01-06T17:26:38.451780+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15146390; Phenotypes: Acromesomelic dysplasia, Maroteaux type (MIM#602875); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NPR2","entity_type":"gene"},{"created":"2025-01-06T17:17:43.785337+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"changed review comment from: Syndromic and non-syndromic causes of LCA are associated with bi-allelic variants in this gene.\r\n\r\nNon-syndromic LCA: multiple affected families reported, p.Glu257Lys is a common founder variant.\r\n\r\nSyndromic disorder: three families reported, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant. \r\n\r\nGreen for non-syndromic LCA (MIM# added to review). No additional affected individuals in the literature (Amber? MIM# has not been added to review).; to: Syndromic and non-syndromic causes of LCA are associated with bi-allelic variants in this gene.\r\n\r\nNon-syndromic LCA: multiple affected families reported, p.Glu257Lys is a common founder variant.\r\n\r\nSyndromic disorder: three families reported, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant. \r\n\r\nGreen for non-syndromic LCA (MIM# added to review). No additional affected individuals in the literature for syndromic LCA (Amber? MIM# has not been added to review).","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2025-01-06T17:16:56.728624+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32533184, 33668384, 22842230, 22842229; Phenotypes: Leber congenital amaurosis 9 (MIM#608553); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2025-01-06T17:13:43.803304+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"edited their review of gene: CHST14: Added comment: Musculocontractural EDS type 1 (mcEDS) is a rare type of EDS caused by biallelic loss-of-function variants in CHST14 (PMID: 34815299).\r\n\r\nMajor features are: congenital multiple contractures and characteristic craniofacial features at birth or in early infancy; congenital multiple contractures and characteristic cutaneous features in adolescence and in adulthood (PMID: 34815299).\r\n\r\nThe CHST14 gene has only 1 exon, therefore PTV variants escape NMD. Missense and in-frame deletion have also been reported with a similar phenotype to that caused by PTV (PMID: 34815299).; Changed rating: GREEN","entity_name":"CHST14","entity_type":"gene"},{"created":"2025-01-06T17:13:20.314053+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: CHST14: Rating: ; Mode of pathogenicity: None; Publications: 34815299; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHST14","entity_type":"gene"},{"created":"2025-01-06T16:57:00.511257+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221, 36256512; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1 (MIM# 605711), Spastic paraplegia 93 (MIM# 620938); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NFU1","entity_type":"gene"},{"created":"2025-01-06T16:46:22.500316+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942469; Phenotypes: Complement factor I deficiency MIM#610984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CFI","entity_type":"gene"},{"created":"2025-01-06T16:28:09.426847+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly (MIM# 263520); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NEK1","entity_type":"gene"},{"created":"2025-01-06T16:03:10.251337+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NDUFS6","entity_type":"gene"},{"created":"2025-01-06T15:52:50.169464+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33488600, 33082212; Phenotypes: Nijmegen breakage syndrome (MIM#251260); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NBN","entity_type":"gene"},{"created":"2025-01-06T15:52:39.544975+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Crystle Lee","item_type":"entity","text":"changed review comment from: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. \r\n\r\nMean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM)\r\nPMID: 37216648: Onset range from 6-35. \r\nPMID: 25724973: Onset in teens. Wheelchair bound by 44. \r\nPMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age. \r\n\r\nOther similar/more severe LDMG phenotypes included in panel.; to: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. \r\n\r\nMean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM)\r\nPMID: 37216648: Onset range from 6-35. \r\nPMID: 25724973: Onset in teens. Wheelchair bound by 44. \r\nPMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age. \r\n\r\nOther similar/more severe LGMD phenotypes included in panel.","entity_name":"TCAP","entity_type":"gene"},{"created":"2025-01-06T15:51:32.944960+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Crystle Lee","item_type":"entity","text":"changed review comment from: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf\r\nhypertrophy and loss of ambulation. \r\n\r\nMean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM)\r\nPMID: 37216648: Onset range from 6-35. \r\nPMID: 25724973: Onset in teens. Wheelchair bound by 44. \r\nPMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age. \r\n\r\nOther similar/more severe LDMG phenotypes included in panel.; to: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. \r\n\r\nMean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM)\r\nPMID: 37216648: Onset range from 6-35. \r\nPMID: 25724973: Onset in teens. Wheelchair bound by 44. \r\nPMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age. \r\n\r\nOther similar/more severe LDMG phenotypes included in panel.","entity_name":"TCAP","entity_type":"gene"},{"created":"2025-01-06T15:51:19.603283+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Crystle Lee","item_type":"entity","text":"edited their review of gene: TCAP: Changed rating: GREEN","entity_name":"TCAP","entity_type":"gene"},{"created":"2025-01-06T15:50:53.943906+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 37216648, 25724973; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM#601954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCAP","entity_type":"gene"},{"created":"2025-01-06T15:39:59.280874+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: None; Publications: 8152878, 15726110, 8723082, 27213289, 7551156; Phenotypes: Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NANS","entity_type":"gene"},{"created":"2025-01-06T15:09:49.297155+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23749988, 24075186, 3016785; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NALCN","entity_type":"gene"},{"created":"2025-01-06T15:01:34.947271+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 27281533, 25719194; Phenotypes: Deafness, autosomal recessive 86 MIM#614617, Developmental and epileptic encephalopathy 16 MIM#615338, DOORS syndrome MIM#220500, Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105, Myoclonic epilepsy, infantile, familial MIM#605021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBC1D24","entity_type":"gene"},{"created":"2025-01-06T14:36:15.960553+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 26522270, 34200686, 37130971, 30842225, 2443133134075687; Phenotypes: Ogden syndrome (MIM#300855), Syndromic microphthalmia 1 (MIM#309800); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes","entity_name":"NAA10","entity_type":"gene"},{"created":"2025-01-06T14:33:24.567428+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20486178, 16582076; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 4, MIM#603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STX11","entity_type":"gene"},{"created":"2025-01-06T14:23:54.730174+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679, 39214971; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM#617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SQSTM1","entity_type":"gene"},{"created":"2025-01-06T14:12:55.551656+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 34706912; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2025-01-06T14:04:07.833396+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM#619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SDHAF1","entity_type":"gene"},{"created":"2025-01-06T13:46:52.984054+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27412952; Phenotypes: Combined oxidative phosphorylation deficiency 11, MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RMND1","entity_type":"gene"},{"created":"2025-01-06T13:45:10.126468+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8968736, 8968737, 9683607, 12068375; Phenotypes: Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"MTR","entity_type":"gene"},{"created":"2025-01-06T13:43:52.528116+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: RFXANK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32875002; Phenotypes: MHC class II deficiency 2, MIM#620815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RFXANK","entity_type":"gene"},{"created":"2025-01-06T13:37:32.721770+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31884613, 19011012, 28471114, 34031043, 35491887; Phenotypes: Leber congenital amaurosis 13, MIM#612712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RDH12","entity_type":"gene"},{"created":"2025-01-06T13:33:50.179551+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 9731530; Phenotypes: Molybdenum cofactor deficiency A (MIM#252150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"MOCS1","entity_type":"gene"},{"created":"2025-01-06T13:05:28.958524+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38009286, 29881806; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM#611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RARS2","entity_type":"gene"},{"created":"2025-01-06T11:04:37.875478+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2235","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: LRRC8C was added\ngene: LRRC8C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LRRC8C were set to 39623139\nPhenotypes for gene: LRRC8C were set to TIMES syndrome MIM#621056\nMode of pathogenicity for gene: LRRC8C was set to Other\nReview for gene: LRRC8C was set to RED\nAdded comment: TIMES syndrome is a multisystem disorder characterised by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Patients exhibit striking cutis marmorata in infancy. \r\n\r\nTwo individuals from unrelated families presenting with similar features consistent with TIMES syndrome. \r\nLeu400IlefsTer8 and Val390Leu variants were identified however the proposed mechanism of disease is GoF. \nSources: Literature","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2025-01-06T09:59:45.672223+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2235","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: WASHC3 was added\ngene: WASHC3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WASHC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\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\nReview for gene: WASHC3 was set to GREEN\nAdded comment: Three unrelated families with short stature, distinctive facies and neurodevelopmental abnormalities. Two different rare missense variants were identified between the three families (c.207A>C:p.L69F and c.1A>T, p.M1?). \r\nIn vitro functional assay was conducted on both variants showing impaired protein function supportive of disease mechanism. \nSources: Literature","entity_name":"WASHC3","entity_type":"gene"},{"created":"2025-01-06T09:35:31.691484+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.298","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SLC13A1: Rating: AMBER; Mode of pathogenicity: None; Publications: doi: https://doi.org/10.1016/j.gimo.2024.101958; Phenotypes: sulfation-related bone disorder MONDO:0019688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC13A1","entity_type":"gene"},{"created":"2025-01-06T09:28:17.580869+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2235","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SLC13A1: Rating: AMBER; Mode of pathogenicity: None; Publications: doi: https://doi.org/10.1016/j.gimo.2024.101958; Phenotypes: sulfation-related bone disorder MONDO:0019688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC13A1","entity_type":"gene"},{"created":"2025-01-05T17:11:44.945162+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.33","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RICTOR as ready","entity_name":"RICTOR","entity_type":"gene"},{"created":"2025-01-05T17:11:44.926112+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.33","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rictor has been classified as Green List (High Evidence).","entity_name":"RICTOR","entity_type":"gene"},{"created":"2025-01-05T17:11:06.831299+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.33","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RICTOR as Green List (high evidence)","entity_name":"RICTOR","entity_type":"gene"},{"created":"2025-01-05T17:11:06.819797+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.33","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rictor has been classified as Green List (High Evidence).","entity_name":"RICTOR","entity_type":"gene"},{"created":"2025-01-05T17:10:21.754293+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.32","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RICTOR was added\ngene: RICTOR was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RICTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RICTOR were set to 39738822\nPhenotypes for gene: RICTOR were set to Neurodevelopmental disorder MONDO:0700092, RICTOR-related\nReview for gene: RICTOR was set to GREEN\nAdded comment: 8 unrelated cases presenting with ID and/or developmental delay with de novo or heterozygous variants inherited from one affected parent, including three missense variants, four loss-of-function variants and one 3 kb deletion encompassing RICTOR. Possible gain of function and loss of function mechanism of disease. \nSources: Literature","entity_name":"RICTOR","entity_type":"gene"},{"created":"2025-01-05T17:09:58.551128+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2235","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RICTOR as ready","entity_name":"RICTOR","entity_type":"gene"},{"created":"2025-01-05T17:09:58.533830+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2235","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rictor has been classified as Green List (High Evidence).","entity_name":"RICTOR","entity_type":"gene"},{"created":"2025-01-05T17:09:19.732655+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2235","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RICTOR as Green List (high evidence)","entity_name":"RICTOR","entity_type":"gene"},{"created":"2025-01-05T17:09:19.716097+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2235","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rictor has been classified as Green List (High Evidence).","entity_name":"RICTOR","entity_type":"gene"},{"created":"2025-01-05T17:08:46.672621+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2234","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RICTOR was added\ngene: RICTOR was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RICTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RICTOR were set to 39738822\nPhenotypes for gene: RICTOR were set to Neurodevelopmental disorder MONDO:0700092, RICTOR-related\nReview for gene: RICTOR was set to GREEN\nAdded comment: 8 unrelated cases presenting with ID and/or developmental delay with de novo or heterozygous variants inherited from one affected parent, including three missense variants, four loss-of-function variants and one 3 kb deletion encompassing RICTOR. Possible gain of function and loss of function mechanism of disease. \nSources: Literature","entity_name":"RICTOR","entity_type":"gene"},{"created":"2025-01-05T17:04:59.170124+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.31","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: UBR5 as ready","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T17:04:59.154954+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.31","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubr5 has been classified as Green List (High Evidence).","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T17:04:47.092358+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.31","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: UBR5 as Green List (high evidence)","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T17:04:47.078510+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.31","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubr5 has been classified as Green List (High Evidence).","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:56:57.414918+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.30","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UBR5 was added\ngene: UBR5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBR5 were set to 39721588\nPhenotypes for gene: UBR5 were set to Neurodevelopmental disorder MONDO:0700092, UBR5-related\nReview for gene: UBR5 was set to GREEN\nAdded comment: 29 individuals with a neurodevelopment syndrome (24 de novo variants) with a core phenotype characterised by developmental delay (26/28), autism (16/26), and intellectual disability (56%). Additionally, some individuals presented with epilepsy/seizures (11/27), movement disorders, and/or genital anomalies (35%). Loss of function is the expected mechanism of disease with functional experiments in C. elegans and in vitro ubiquitination assays. \nSources: Literature","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:55:17.358022+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.203","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: UBR5 as ready","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:55:17.342747+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.203","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubr5 has been classified as Green List (High Evidence).","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:55:07.906562+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.89","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: UBR5 as ready","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:55:07.882561+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.89","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubr5 has been classified as Green List (High Evidence).","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:55:02.280477+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.203","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: UBR5 as Green List (high evidence)","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:55:02.269625+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.203","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubr5 has been classified as Green List (High Evidence).","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:54:42.347580+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.89","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: UBR5 as Green List (high evidence)","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:54:42.336912+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.89","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubr5 has been classified as Green List (High Evidence).","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:53:56.686006+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.202","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UBR5 was added\ngene: UBR5 was added to Autism. Sources: Literature\nMode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBR5 were set to 39721588\nPhenotypes for gene: UBR5 were set to Neurodevelopmental disorder MONDO:0700092, UBR5-related\nReview for gene: UBR5 was set to GREEN\nAdded comment: 29 individuals with a neurodevelopment syndrome (24 de novo variants) with a core phenotype characterised by developmental delay (26/28), autism (16/26), and intellectual disability (56%). Additionally, some individuals presented with epilepsy/seizures (11/27), movement disorders, and/or genital anomalies (35%). Loss of function is the expected mechanism of disease with functional experiments in C. elegans and in vitro ubiquitination assays. \nSources: Literature","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:52:34.371312+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.88","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UBR5 was added\ngene: UBR5 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBR5 were set to 39721588\nPhenotypes for gene: UBR5 were set to Neurodevelopmental disorder MONDO:0700092, UBR5-related\nReview for gene: UBR5 was set to GREEN\nAdded comment: 29 individuals with a neurodevelopment syndrome (24 de novo variants) with a core phenotype characterised by developmental delay (26/28), autism (16/26), and intellectual disability (56%). Additionally, some individuals presented with epilepsy/seizures (11/27), movement disorders, and/or genital anomalies (35%). Loss of function is the expected mechanism of disease with functional experiments in C. elegans and in vitro ubiquitination assays. \nSources: Literature","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:52:21.392673+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2233","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: UBR5 as ready","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:52:21.379973+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2233","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubr5 has been classified as Green List (High Evidence).","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:52:10.993171+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: UBR5 as ready","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:52:10.970703+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubr5 has been classified as Green List (High Evidence).","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:51:47.250648+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: UBR5 as Green List (high evidence)","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:51:47.232642+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubr5 has been classified as Green List (High Evidence).","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:51:06.207829+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UBR5 was added\ngene: UBR5 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBR5 were set to 39721588\nPhenotypes for gene: UBR5 were set to Neurodevelopmental disorder MONDO:0700092, UBR5-related\nReview for gene: UBR5 was set to GREEN\nAdded comment: 29 individuals with a neurodevelopment syndrome (24 de novo variants) with a core phenotype characterised by developmental delay (26/28), autism (16/26), and intellectual disability (56%). Additionally, some individuals presented with epilepsy/seizures (11/27), movement disorders, and/or genital anomalies (35%). Loss of function is the expected mechanism of disease with functional experiments in C. elegans and in vitro ubiquitination assays. \nSources: Literature","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:49:47.127516+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2233","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: UBR5 as Green List (high evidence)","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:49:47.103058+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2233","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubr5 has been classified as Green List (High Evidence).","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-05T16:49:24.307962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2232","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UBR5 was added\ngene: UBR5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBR5 were set to 39721588\nPhenotypes for gene: UBR5 were set to Neurodevelopmental disorder MONDO:0700092, UBR5-related\nReview for gene: UBR5 was set to GREEN\nAdded comment: 29 individuals with a neurodevelopment syndrome (24 de novo variants) with a core phenotype characterised by developmental delay (26/28), autism (16/26), and intellectual disability (56%). Additionally, some individuals presented with epilepsy/seizures (11/27), movement disorders, and/or genital anomalies (35%). Loss of function is the expected mechanism of disease with functional experiments in C. elegans and in vitro ubiquitination assays. \nSources: Literature","entity_name":"UBR5","entity_type":"gene"},{"created":"2025-01-04T17:19:49.618873+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2231","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: MRUPAV_PLIN4 as ready","entity_name":"MRUPAV_PLIN4","entity_type":"str"},{"created":"2025-01-04T17:19:49.604664+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2231","user_name":"Bryony Thompson","item_type":"entity","text":"Str: mrupav_plin4 has been classified as Green List (High Evidence).","entity_name":"MRUPAV_PLIN4","entity_type":"str"},{"created":"2025-01-04T17:17:33.184966+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2231","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: MRUPAV_PLIN4 as Green List (high evidence)","entity_name":"MRUPAV_PLIN4","entity_type":"str"},{"created":"2025-01-04T17:17:33.175593+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2231","user_name":"Bryony Thompson","item_type":"entity","text":"Str: mrupav_plin4 has been classified as Green List (High Evidence).","entity_name":"MRUPAV_PLIN4","entity_type":"str"},{"created":"2025-01-04T17:17:12.013020+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2230","user_name":"Bryony Thompson","item_type":"entity","text":"STR: MRUPAV_PLIN4 was added\nSTR: MRUPAV_PLIN4 was added to Mendeliome. Sources: Literature\nSTR tags were added to STR: MRUPAV_PLIN4.\nMode of inheritance for STR: MRUPAV_PLIN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: MRUPAV_PLIN4 were set to 32451610; 37145156; 36151849; 35499779\nPhenotypes for STR: MRUPAV_PLIN4 were set to myopathy, distal, with rimmed vacuoles MONDO:0014945\nReview for STR: MRUPAV_PLIN4 was set to GREEN\nSTR: MRUPAV_PLIN4 was marked as clinically relevant\nAdded comment: Expansion of 33-mer (33 amino acids, 99 bp) identified in coding exon 3 (exon 5) of PLIN4 via linkage analysis and long read sequencing in a large Italian cohort with progressive myopathy with specific pathology including rimmed ubiquitin-positive autophagic vacuolation.\r\nSuggested disease name myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV). An additional 4 unrelated Chinese families/probands were reported. The repeat expansion is not detectable using short-read sequencing. \r\nNormal PLIN4 alleles: 27-31 x 33-mer\r\nPathogenic: ≥39 x 33-mer \nSources: Literature","entity_name":"MRUPAV_PLIN4","entity_type":"str"},{"created":"2025-01-03T14:36:02.071117+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: EARS2 as ready","entity_name":"EARS2","entity_type":"gene"},{"created":"2025-01-03T14:36:02.026097+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Lilian Downie","item_type":"entity","text":"Gene: ears2 has been classified as Green List (High Evidence).","entity_name":"EARS2","entity_type":"gene"},{"created":"2025-01-03T14:35:49.355454+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: EARS2 were changed from Combined oxidative phosphorylation deficiency 12, 614924 (3) to Combined oxidative phosphorylation deficiency 12 MIM#614924","entity_name":"EARS2","entity_type":"gene"},{"created":"2025-01-03T14:35:31.279335+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.991","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: EARS2 were set to ","entity_name":"EARS2","entity_type":"gene"},{"created":"2025-01-03T14:35:11.217965+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.990","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: EARS2: Rating: ; Mode of pathogenicity: None; Publications: 39173847; Phenotypes: Combined oxidative phosphorylation deficiency 12 MIM#614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EARS2","entity_type":"gene"},{"created":"2025-01-03T14:32:17.872937+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.990","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: DYM as ready","entity_name":"DYM","entity_type":"gene"}]}