{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=65","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=63","results":[{"created":"2026-01-08T15:47:50.803965+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.387","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nmnat1 has been classified as Amber List (Moderate Evidence).","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2026-01-08T15:47:30.436719+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.387","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NMNAT1 as Amber List (moderate evidence)","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2026-01-08T15:47:30.427613+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.387","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nmnat1 has been classified as Amber List (Moderate Evidence).","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2026-01-08T15:47:18.074375+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.387","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene VPS33A from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-08T15:47:17.860210+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.387","user_name":"Chirag Patel","item_type":"entity","text":"gene: VPS33A was added\ngene: VPS33A was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: VPS33A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS33A were set to 28013294; 27547915; 31936524; 36153662\nPhenotypes for gene: VPS33A were set to Mucopolysaccharidosis-plus syndrome (MIM#617303)","entity_name":"VPS33A","entity_type":"gene"},{"created":"2026-01-08T15:45:13.033366+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.386","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene SLC35B2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-08T15:45:12.808426+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.386","user_name":"Chirag Patel","item_type":"entity","text":"gene: SLC35B2 was added\ngene: SLC35B2 was added to Skeletal dysplasia. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC35B2 were set to PMID: 35325049\nPhenotypes for gene: SLC35B2 were set to Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269","entity_name":"SLC35B2","entity_type":"gene"},{"created":"2026-01-08T15:41:37.238027+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.385","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene PDIA6 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-08T15:41:36.995099+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.385","user_name":"Chirag Patel","item_type":"entity","text":"gene: PDIA6 was added\ngene: PDIA6 was added to Skeletal dysplasia. Sources: Expert Review Green,Literature,Literature\nMode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDIA6 were set to 40974269; 35856135; 33495992\nPhenotypes for gene: PDIA6 were set to multiple congenital anomalies, MONDO:0019042, PDIA6-related","entity_name":"PDIA6","entity_type":"gene"},{"created":"2026-01-08T15:38:38.324458+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.384","user_name":"Chirag Patel","item_type":"entity","text":"gene: NMNAT1 was added\ngene: NMNAT1 was added to Skeletal dysplasia. Sources: Expert List\nMode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NMNAT1 were set to 32533184, 33668384\nPhenotypes for gene: NMNAT1 were set to Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260\nReview for gene: NMNAT1 was set to AMBER\nAdded comment: 3 families reported, but 2 are distantly related (shared haplotype). Clinical presentation was severe spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis (SHILCA).\r\n\r\nThe affected children in the 2 related 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. mRNA expression assays detected aberrant alternative transcripts and unbalanced levels of expression. \nSources: Expert List","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2026-01-08T15:28:33.167960+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.383","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene FGF4 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-08T15:28:32.954741+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.383","user_name":"Chirag Patel","item_type":"entity","text":"gene: FGF4 was added\ngene: FGF4 was added to Skeletal dysplasia. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: FGF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGF4 were set to 40259859\nPhenotypes for gene: FGF4 were set to Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260","entity_name":"FGF4","entity_type":"gene"},{"created":"2026-01-08T15:27:55.082468+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.383","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene LRRC8C from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-08T15:27:54.881857+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.383","user_name":"Chirag Patel","item_type":"entity","text":"gene: LRRC8C was added\ngene: LRRC8C was added to Skeletal dysplasia. Sources: Expert Review Amber,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","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2026-01-08T15:26:26.629167+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UNC45A as ready","entity_name":"UNC45A","entity_type":"gene"},{"created":"2026-01-08T15:26:26.621812+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: unc45a has been classified as Green List (High Evidence).","entity_name":"UNC45A","entity_type":"gene"},{"created":"2026-01-08T15:25:51.541968+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UNC45A were set to 29429573","entity_name":"UNC45A","entity_type":"gene"},{"created":"2026-01-08T15:25:28.041281+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3992","user_name":"Zornitza Stark","item_type":"entity","text":"Tag 5'UTR tag was added to gene: UNC45A.","entity_name":"UNC45A","entity_type":"gene"},{"created":"2026-01-08T15:24:58.631402+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3992","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UNC45A were set to 29429573; 35575086; 36699472; 37328071, 39887522; 40125554; 40129845; 32013205","entity_name":"UNC45A","entity_type":"gene"},{"created":"2026-01-08T15:24:37.237189+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3991","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UNC45A were set to 29429573","entity_name":"UNC45A","entity_type":"gene"},{"created":"2026-01-08T15:24:18.524794+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3990","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UNC45A: Added comment: PMIDs 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205 add 33 unrelated families to the previously reviewed three families, bringing the total to 37 unrelated families. Eleven families present with osteo‑oto‑hepato‑enteric (O2HE) syndrome (neonatal cholestasis, intractable diarrhea, bone fragility, sensorineural hearing loss) and carry loss‑of‑function or protein‑unstable missense variants. Functional validation (Western blot, zebrafish morpholino knock‑down, rescue experiments, CRISPR‑KO in Caco‑2/U2OS cells) demonstrates pathogenicity. Twenty‑five families have Aagenaes syndrome (lymphedema‑cholestasis syndrome) caused by a recurrent 5′‑UTR regulatory variant (c.-98G>T) plus loss‑of‑function exonic alleles, with reduced UNC45A expression confirmed in patient blood and CRISPR‑edited cells.; Changed publications: 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205","entity_name":"UNC45A","entity_type":"gene"},{"created":"2026-01-08T15:23:51.418404+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene UNC45A from panel Cholestasis","entity_name":null,"entity_type":null},{"created":"2026-01-08T15:23:51.333496+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UNC45A was added\ngene: UNC45A was added to Lymphoedema_syndromic. Sources: Expert Review Green,Victorian Clinical Genetics Services\n5'UTR tags were added to gene: UNC45A.\nMode of inheritance for gene: UNC45A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC45A were set to 29429573\nPhenotypes for gene: UNC45A were set to Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing","entity_name":"UNC45A","entity_type":"gene"},{"created":"2026-01-08T15:23:20.204768+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.382","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene C16orf62 from panel Chondrodysplasia Punctata","entity_name":null,"entity_type":null},{"created":"2026-01-08T15:23:19.978034+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.382","user_name":"Chirag Patel","item_type":"entity","text":"gene: C16orf62 was added\ngene: C16orf62 was added to Skeletal dysplasia. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C16orf62 were set to 25434475; 31712251\nPhenotypes for gene: C16orf62 were set to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135","entity_name":"C16orf62","entity_type":"gene"},{"created":"2026-01-08T15:22:42.772593+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Tag 5'UTR tag was added to gene: UNC45A.","entity_name":"UNC45A","entity_type":"gene"},{"created":"2026-01-08T15:22:27.997944+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UNC45A: Added comment: PMIDs 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205 add 33 unrelated families to the previously reviewed three families, bringing the total to 37 unrelated families. Eleven families present with osteo‑oto‑hepato‑enteric (O2HE) syndrome (neonatal cholestasis, intractable diarrhea, bone fragility, sensorineural hearing loss) and carry loss‑of‑function or protein‑unstable missense variants. Functional validation (Western blot, zebrafish morpholino knock‑down, rescue experiments, CRISPR‑KO in Caco‑2/U2OS cells) demonstrates pathogenicity. Twenty‑five families have Aagenaes syndrome (lymphedema‑cholestasis syndrome) caused by a recurrent 5′‑UTR regulatory variant (c.-98G>T) plus loss‑of‑function exonic alleles, with reduced UNC45A expression confirmed in patient blood and CRISPR‑edited cells.; Changed publications: 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205","entity_name":"UNC45A","entity_type":"gene"},{"created":"2026-01-08T15:21:33.024793+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.381","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene WBP11 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-08T15:21:32.824886+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.381","user_name":"Chirag Patel","item_type":"entity","text":"gene: WBP11 was added\ngene: WBP11 was added to Skeletal dysplasia. Sources: Expert Review Green,Literature\nMode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: WBP11 were set to 33276377\nPhenotypes for gene: WBP11 were set to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227; malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems","entity_name":"WBP11","entity_type":"gene"},{"created":"2026-01-08T15:21:20.305120+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.380","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NXN as ready","entity_name":"NXN","entity_type":"gene"},{"created":"2026-01-08T15:21:20.295581+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.380","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nxn has been classified as Green List (High Evidence).","entity_name":"NXN","entity_type":"gene"},{"created":"2026-01-08T15:15:31.269646+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.380","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene NXN from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-08T15:15:31.008855+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.380","user_name":"Chirag Patel","item_type":"entity","text":"gene: NXN was added\ngene: NXN was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NXN were set to 29276006\nPhenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2 618529","entity_name":"NXN","entity_type":"gene"},{"created":"2026-01-08T15:15:14.547774+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.379","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: MYO18B as ready","entity_name":"MYO18B","entity_type":"gene"},{"created":"2026-01-08T15:15:14.539098+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.379","user_name":"Chirag Patel","item_type":"entity","text":"Gene: myo18b has been classified as Green List (High Evidence).","entity_name":"MYO18B","entity_type":"gene"},{"created":"2026-01-08T15:14:28.949894+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.379","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene MYO18B from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-08T15:14:28.747813+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.379","user_name":"Chirag Patel","item_type":"entity","text":"gene: MYO18B was added\ngene: MYO18B was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO18B were set to 25748484; 27858739; 32637634; 32184166; 27879346\nPhenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, MIM# 616549","entity_name":"MYO18B","entity_type":"gene"},{"created":"2026-01-08T15:11:41.430845+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.378","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: ARCN1 as ready","entity_name":"ARCN1","entity_type":"gene"},{"created":"2026-01-08T15:11:41.423101+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.378","user_name":"Chirag Patel","item_type":"entity","text":"Gene: arcn1 has been classified as Green List (High Evidence).","entity_name":"ARCN1","entity_type":"gene"},{"created":"2026-01-08T15:11:37.636126+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.378","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: DVL2 as ready","entity_name":"DVL2","entity_type":"gene"},{"created":"2026-01-08T15:11:37.628124+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.378","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dvl2 has been classified as Amber List (Moderate Evidence).","entity_name":"DVL2","entity_type":"gene"},{"created":"2026-01-08T15:11:23.844735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3990","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene KIF24 from panel Skeletal dysplasia","entity_name":null,"entity_type":null},{"created":"2026-01-08T15:11:23.247580+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3990","user_name":"Chirag Patel","item_type":"entity","text":"gene: KIF24 was added\ngene: KIF24 was added to Mendeliome. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KIF24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF24 were set to 35748595\nPhenotypes for gene: KIF24 were set to Skeletal dysplasia MONDO:0018230, KIF24 related","entity_name":"KIF24","entity_type":"gene"},{"created":"2026-01-08T15:11:15.335643+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.378","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: KIF24 as ready","entity_name":"KIF24","entity_type":"gene"},{"created":"2026-01-08T15:11:15.327709+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.378","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kif24 has been classified as Green List (High Evidence).","entity_name":"KIF24","entity_type":"gene"},{"created":"2026-01-08T15:10:57.540649+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.378","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KIF24 as Green List (high evidence)","entity_name":"KIF24","entity_type":"gene"},{"created":"2026-01-08T15:10:57.530553+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.378","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kif24 has been classified as Green List (High Evidence).","entity_name":"KIF24","entity_type":"gene"},{"created":"2026-01-08T15:10:24.800355+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.377","user_name":"Chirag Patel","item_type":"entity","text":"gene: KIF24 was added\ngene: KIF24 was added to Skeletal dysplasia. Sources: Genomics England PanelApp\nMode of inheritance for gene: KIF24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF24 were set to 35748595\nPhenotypes for gene: KIF24 were set to Skeletal dysplasia MONDO:0018230, KIF24 related\nReview for gene: KIF24 was set to GREEN\nAdded comment: 6 individuals from 3 unrelated families affected by a spectrum of skeletal abnormalities ranging from a lethal fetal skeletal ciliopathy to acromesomelic skeletal dysplasia and a less severe spondylometaphyseal dysplasia. All individuals had different biallelic missense variants in KIF24 which segregated with the phenotype. In vitro studies showed that ciliogenesis and cytokinesis were severely affected in amnioblasts of one affected fetus. \nSources: Genomics England PanelApp","entity_name":"KIF24","entity_type":"gene"},{"created":"2026-01-08T15:07:43.679175+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: STAR: Added comment: PMID 33966472 reviews 3 previously published cases of heterozygous variants and reports another -- attenuated phenotype.; Changed publications: 7892608, 8634702, 33966472","entity_name":"STAR","entity_type":"gene"},{"created":"2026-01-08T14:59:49.338340+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3989","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN1A were set to 30368457; 12754708; 25754450; 32928894; 29543227","entity_name":"SCN1A","entity_type":"gene"},{"created":"2026-01-08T14:59:46.293066+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.376","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene DVL2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-08T14:59:46.066475+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.376","user_name":"Chirag Patel","item_type":"entity","text":"gene: DVL2 was added\ngene: DVL2 was added to Skeletal dysplasia. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: DVL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DVL2 were set to 35047859; 33599851; 30521570\nPhenotypes for gene: DVL2 were set to Robinow syndrome MONDO:0019978","entity_name":"DVL2","entity_type":"gene"},{"created":"2026-01-08T14:59:29.151520+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3988","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCN1A","entity_type":"gene"},{"created":"2026-01-08T14:59:11.035505+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3987","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCN1A: Added comment: PMID 40120363 reviews 16 published cases with biallelic variants and reports another 2: 9/18 (50 %) were diagnosed with Dravet syndrome and 6/18 (33 %) with GEFS+. The mean age of seizure onset was 7 months (range 3-19 months). Phenotypes ranged from intact neurodevelopment with controlled epilepsy to profound developmental delay and refractory epilepsy.; Changed publications: 29543227, 40120363; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCN1A","entity_type":"gene"},{"created":"2026-01-08T14:58:47.293973+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.334","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCN1A","entity_type":"gene"},{"created":"2026-01-08T14:58:16.886669+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.333","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCN1A: Added comment: PMID 40120363 reviews 16 published cases with biallelic variants and reports another 2: 9/18 (50 %) were diagnosed with Dravet syndrome and 6/18 (33 %) with GEFS+. The mean age of seizure onset was 7 months (range 3-19 months). Phenotypes ranged from intact neurodevelopment with controlled epilepsy to profound developmental delay and refractory epilepsy.; Changed publications: 40120363; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCN1A","entity_type":"gene"},{"created":"2026-01-08T14:54:07.527253+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.375","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene ARCN1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-08T14:54:07.339893+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.375","user_name":"Chirag Patel","item_type":"entity","text":"gene: ARCN1 was added\ngene: ARCN1 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARCN1 were set to 27476655; 33154040\nPhenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)","entity_name":"ARCN1","entity_type":"gene"},{"created":"2026-01-08T14:51:03.848798+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, hypertrophic 6, MIM# 600858 to Cardiomyopathy, hypertrophic 6, MIM# 600858; Glycogen storage disease of heart, lethal congenital, MIM# 261740","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2026-01-08T14:50:55.311660+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRKAG2 were set to 194200; 37013823; 30681346","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2026-01-08T14:50:36.886347+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRKAG2: Changed publications: 37013823, 15877279, 17667862, 32646569; Changed phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858, Glycogen storage disease of heart, lethal congenital, MIM# 261740; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2026-01-08T14:46:00.901747+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKAG2 as ready","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2026-01-08T14:46:00.894355+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkag2 has been classified as Green List (High Evidence).","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2026-01-08T14:45:58.202139+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, familial hypertrophic 6,; Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; syndromic HCM to Cardiomyopathy, hypertrophic 6, MIM# 600858","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2026-01-08T14:45:44.293690+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRKAG2 were set to 194200","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2026-01-08T14:45:30.298691+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRKAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2026-01-08T14:45:19.953621+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Can present in adulthood with isolated HCM.; to: Monoallelic variants can present in adulthood with isolated HCM.","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2026-01-08T14:44:51.992377+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRKAG2: Added comment: PMID 37013823  reports 3 infants from 2 unrelated families with biallelic truncating PRKAG2 variants presenting with severe neonatal dilated cardiomyopathy, rapid progression to cardiogenic shock and death. Homozygous p.Ile550Asnfs*58 identified in siblings; a 2504 bp exon 11 deletion causing frameshift identified in a third infant. Parents heterozygous and asymptomatic. Zebrafish double knockout model recapitulates reduced ejection fraction, ventricular thickening and atrial fibrillation, supporting loss‑of‑function disease mechanism.; Changed publications: 37013823; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2026-01-08T14:06:17.804092+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3987","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAPK8IP3 were set to 30612693","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2026-01-08T14:05:57.562715+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3986","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAPK8IP3: Added comment: PMID 37462082 reports single individual with compound het variants and a severe congenital hypotonia.; Changed publications: 30612693, 30945334, 37462082","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2026-01-08T13:38:02.968435+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.556","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EMC10 were set to PMID: 32869858; 33531666","entity_name":"EMC10","entity_type":"gene"},{"created":"2026-01-08T13:37:26.027875+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.555","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EMC10: Added comment: PMIDs 35684946, 37318954, 40150819 report 10 additional unrelated families with loss‑of‑function EMC10 variants; Changed publications: 33531666, 35684946, 37318954, 40150819","entity_name":"EMC10","entity_type":"gene"},{"created":"2026-01-08T13:36:56.392038+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3986","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EMC10 were set to 32869858","entity_name":"EMC10","entity_type":"gene"},{"created":"2026-01-08T13:36:36.153971+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3985","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EMC10: Added comment: PMIDs 35684946, 37318954, 40150819 report 10 additional unrelated families with loss‑of‑function EMC10 variants; Changed publications: 32869858, 33531666, 35684946, 37318954, 40150819","entity_name":"EMC10","entity_type":"gene"},{"created":"2026-01-08T13:35:57.257353+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.333","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EMC10 were set to 32869858; 33531666","entity_name":"EMC10","entity_type":"gene"},{"created":"2026-01-08T13:35:18.398615+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.332","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EMC10: Added comment: PMIDs 35684946, 37318954, 40150819 report 10 additional unrelated families with loss‑of‑function EMC10 variants; Changed publications: 32869858, 33531666, 35684946, 37318954, 40150819","entity_name":"EMC10","entity_type":"gene"},{"created":"2026-01-08T09:39:23.119022+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.332","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC13A were changed from Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455; Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-08T09:38:23.352177+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.331","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455, Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-08T09:37:47.524267+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3985","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC13A were changed from Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455; Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-08T09:37:07.455556+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3984","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455, Intellectual development disorder with seizures and dysmorphic facies, MIM#  621457","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-08T09:33:23.239924+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.186","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-08T09:33:05.308313+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.185","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: UNC13A was changed from  to Other","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-08T09:32:46.636864+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.184","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-08T09:32:00.814428+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.555","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-08T09:31:32.757305+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.554","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-08T09:31:14.458222+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.331","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-08T09:30:42.188433+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.330","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-08T09:30:23.255694+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3984","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-08T09:29:45.469866+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3983","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-07T12:55:07.129971+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.184","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UNC13A as ready","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-07T12:55:07.119583+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.184","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: unc13a has been classified as Green List (High Evidence).","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-07T12:55:03.297341+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.184","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to neurodevelopmental disorder MONDO#0700092, UNC13A-related","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-07T12:54:38.136177+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.183","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UNC13A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-07T12:54:21.370575+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.182","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 41125872 reports 48 individuals with neurodevelopmental disorders and UNC13A variants. Of these, 20 classified as pathogenic. Of these 6 individuals had biallelic variants and presented with severe-to-profound GDD or intellectual disability, hypotonia and seizures of different types (largely controllable with medication) or death in early childhood caused by respiratory failure after pneumonia in one case. Mechanism for this subgroup is LoF with carrier parents unaffected.\r\n\r\nA second group of 13 patients (21 months to 32 years old) harboured pathogenic, heterozygous de novo missense variants with multiple substitutions at amino acids 808, 811 and 814 (hinge region). They presented with variable degrees of GDD, hypotonia, seizures of different types (mainly refractory to treatment) and typically exhibited ataxia, tremor or dyskinetic movements rarely observed in other patients.\r\n\r\nAlso a family identified with at least four affected members across two generations (4 years to 35 years old) harbouring a pathogenic heterozygous missense variant (C587F) that caused learning difficulties to mild–moderate intellectual disability as well as controlled seizures.\r\n\r\nThree different types of mechanism of pathogenicity proposed.; to: PMID 41125872 reports 13 patients (21 months to 32 years old) with pathogenic, heterozygous de novo missense variants with multiple substitutions at amino acids 808, 811 and 814 (hinge region). They presented with variable degrees of GDD, hypotonia, seizures of different types (mainly refractory to treatment) and typically exhibited ataxia, tremor or dyskinetic movements rarely observed in other patients.\r\n\r\nGoF proposed.","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-07T12:53:44.598479+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.182","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-07T12:53:39.847295+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.182","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UNC13A: Changed mode of pathogenicity: Other","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-07T12:53:33.491774+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.182","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UNC13A: Changed phenotypes: neurodevelopmental disorder MONDO#0700092, UNC13A-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-07T12:53:06.076517+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.182","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene UNC13A from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-07T12:53:05.841991+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.182","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UNC13A was added\ngene: UNC13A was added to Ataxia. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: UNC13A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: UNC13A were set to 27648472; 28192369; 41125872\nPhenotypes for gene: UNC13A were set to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455","entity_name":"UNC13A","entity_type":"gene"},{"created":"2026-01-07T12:51:44.090146+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.330","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455","entity_name":"UNC13A","entity_type":"gene"}]}