{"count":220828,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=188","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=186","results":[{"created":"2025-08-19T13:39:17.602599+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2842","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARHGAP36 as ready","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T13:39:17.579963+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2842","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgap36 has been classified as Amber List (Moderate Evidence).","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T13:39:10.722629+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2842","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARHGAP36 as Amber List (moderate evidence)","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T13:39:10.713876+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2842","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgap36 has been classified as Amber List (Moderate Evidence).","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T13:38:56.816796+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2841","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARHGAP36 was added\ngene: ARHGAP36 was added to Mendeliome. Sources: Expert Review\nSV/CNV, regulatory region tags were added to gene: ARHGAP36.\nMode of inheritance for gene: ARHGAP36 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ARHGAP36 were set to 35986704; 40015599\nPhenotypes for gene: ARHGAP36 were set to Bazex-Dupre-Christol syndrome, MIM# 301845\nMode of pathogenicity for gene: ARHGAP36 was set to Other\nReview for gene: ARHGAP36 was set to AMBER\nAdded comment: Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward.\r\n\r\nIt is caused by small duplications in an intergenic region on chromosome Xq26 harbouring noncoding enhancer elements that drive overexpression of the ARHGAP36 gene.\r\n\r\nGenomic coordinates (GRCh38) : X:129,500,001-138,900,000.\r\n\r\nAt least 9 families reported but AMBER rating until we decide how to handle regulatory region information in PanelApp Aus -- coding region variants not reported. \nSources: Expert Review","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T13:37:13.189903+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARHGAP36 as ready","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T13:37:13.179381+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgap36 has been classified as Amber List (Moderate Evidence).","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T13:37:10.521239+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARHGAP36 were set to ","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T13:36:48.215983+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward.\r\n\r\nIt is caused by small duplications in an intergenic region on chromosome Xq26 harbouring noncoding enhancer elements that drive overexpression of the ARHGAP36 gene.\r\n\r\nGenomic coordinates (GRCh38) : X:129,500,001-138,900,000.\r\n\r\nAMBER rating until we decide how to handle regulatory region information in PanelApp Aus -- coding region variants not reported.\r\n\r\nSources: Expert Review; to: Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward.\r\n\r\nIt is caused by small duplications in an intergenic region on chromosome Xq26 harbouring noncoding enhancer elements that drive overexpression of the ARHGAP36 gene.\r\n\r\nGenomic coordinates (GRCh38) : X:129,500,001-138,900,000.\r\n\r\nAt least 9 families reported but AMBER rating until we decide how to handle regulatory region information in PanelApp Aus -- coding region variants not reported.\r\n\r\nSources: Expert Review","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T13:36:24.789704+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ARHGAP36: Changed publications: 35986704, 40015599; Changed phenotypes: Bazex-Dupre-Christol syndrome, MIM# 301845","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T13:36:08.837817+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward.\r\n\r\nIt is caused by small duplications in an intergenic region on chromosome Xq26 harbouring noncoding enhancer elements that drive overexpression of the ARHGAP36 gene.\r\n\r\nGenomic coordinates (GRCh38) : X:129,500,001-138,900,000. \nSources: Expert Review; to: Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward.\r\n\r\nIt is caused by small duplications in an intergenic region on chromosome Xq26 harbouring noncoding enhancer elements that drive overexpression of the ARHGAP36 gene.\r\n\r\nGenomic coordinates (GRCh38) : X:129,500,001-138,900,000.\r\n\r\nAMBER rating until we decide how to handle regulatory region information in PanelApp Aus -- coding region variants not reported.\r\n\r\nSources: Expert Review","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T13:34:48.392917+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARHGAP36 as Amber List (moderate evidence)","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T13:34:48.381185+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgap36 has been classified as Amber List (Moderate Evidence).","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-19T13:34:40.527283+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARHGAP36 was added\ngene: ARHGAP36 was added to Hair disorders. Sources: Expert Review\nSV/CNV, regulatory region tags were added to gene: ARHGAP36.\nMode of inheritance for gene: ARHGAP36 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: ARHGAP36 were set to Bazex-Dupre-Christol syndrome, MIM#\t301845\nMode of pathogenicity for gene: ARHGAP36 was set to Other\nReview for gene: ARHGAP36 was set to AMBER\nAdded comment: Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward.\r\n\r\nIt is caused by small duplications in an intergenic region on chromosome Xq26 harbouring noncoding enhancer elements that drive overexpression of the ARHGAP36 gene.\r\n\r\nGenomic coordinates (GRCh38) : X:129,500,001-138,900,000. \nSources: Expert Review","entity_name":"ARHGAP36","entity_type":"gene"},{"created":"2025-08-18T19:15:56.353287+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.551","user_name":"Boris Keren","item_type":"entity","text":"edited their review of gene: MAP1B: Changed publications: PMID: 31317654, PMID: 30150678","entity_name":"MAP1B","entity_type":"gene"},{"created":"2025-08-18T19:09:59.385276+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.551","user_name":"Boris Keren","item_type":"entity","text":"reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31317654, 30150678; Phenotypes: intellectual disability, corpus callosum dysgenesis, corpus callosum hypoplasia, seizures, microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"MAP1B","entity_type":"gene"},{"created":"2025-08-18T19:07:08.400059+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.551","user_name":"Boris Keren","item_type":"entity","text":"gene: MAP1B was added\ngene: MAP1B was added to Callosome. Sources: Literature\nMode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP1B were set to PMID: 30150678; PMID: 31317654\nPhenotypes for gene: MAP1B were set to corpus callosum\nPenetrance for gene: MAP1B were set to Incomplete\nMode of pathogenicity for gene: MAP1B was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"MAP1B","entity_type":"gene"},{"created":"2025-08-18T15:47:56.086402+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"1.5","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27005318, 25010833, 30246918, 30283887; Phenotypes: Osteoporosis MONDO:0005298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"WNT1","entity_type":"gene"},{"created":"2025-08-18T12:56:51.877668+10:00","panel_name":"Genomic newborn screening: BabyScreen+","panel_id":3931,"panel_version":"1.136","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GFAP","entity_type":"gene"},{"created":"2025-08-18T12:15:16.956428+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2840","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YWHAZ were changed from Intellectual disability, MONDO:0001071 to Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2025-08-18T12:14:59.351764+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2839","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: YWHAZ were set to 36001342","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2025-08-18T12:14:41.499524+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2838","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: YWHAZ as Amber List (moderate evidence)","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2025-08-18T12:14:41.488553+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2838","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ywhaz has been classified as Amber List (Moderate Evidence).","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2025-08-18T12:14:28.004833+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2837","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YWHAZ: Added comment: PMID 31024343: 5 individuals with de novo variants in this gene, two had a clinical diagnosis of Rasopathy. 3 missense variants and 2 high impact variants (one is NMD escape). Parentage not confirmed in 3. Two had other possible variants of interest.\r\n\r\nUsed Xenopus to investigate the effect of one of the missense variants, S230W, and demonstrated activation of the Raf-MEK-Erk pathway and embryonic defects when expressed at high levels. Suggests GoF as mechanism.\r\n\r\nFurther de novo missense identified in a large cohort of NDDs, PMID 35143101.\r\n\r\nPMID 35501409: knockout Zebrafish, altered brain activity and behaviour.\r\n\r\nPMID 22124272, 26207352: two mouse models also support role in brain development.\r\n\r\nMODERATE by ClinGen, but note this is mostly driven by experimental data points. Also note there is evidence for both GoF and LoF mechanism, potentially two distinct disorders?; Changed rating: AMBER; Changed publications: 36001342, 31024343, 35143101, 35501409, 22124272, 26207352; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2025-08-18T12:13:25.907378+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.223","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YWHAZ were changed from Intellectual disability, MONDO:0001071 to Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2025-08-18T12:12:52.608475+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.222","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: YWHAZ as Amber List (moderate evidence)","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2025-08-18T12:12:52.597107+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.222","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ywhaz has been classified as Amber List (Moderate Evidence).","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2025-08-18T12:12:25.481267+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.221","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: YWHAZ: Rating: AMBER; Mode of pathogenicity: None; Publications: 31024343, 35143101, 35501409, 22124272, 26207352; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2025-08-18T11:18:26.178932+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THRA as ready","entity_name":"THRA","entity_type":"gene"},{"created":"2025-08-18T11:18:26.172494+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thra has been classified as Amber List (Moderate Evidence).","entity_name":"THRA","entity_type":"gene"},{"created":"2025-08-18T11:18:19.287523+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.123","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: THRA as Amber List (moderate evidence)","entity_name":"THRA","entity_type":"gene"},{"created":"2025-08-18T11:18:19.272409+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thra has been classified as Amber List (Moderate Evidence).","entity_name":"THRA","entity_type":"gene"},{"created":"2025-08-18T11:17:53.173504+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"gene: THRA was added\ngene: THRA was added to Bone Marrow Failure. Sources: Expert Review\nMode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: THRA were set to Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450\nReview for gene: THRA was set to AMBER\nAdded comment: Over 10 sequence variants (including truncating nonsense and frameshift as well as missense) have been reported in the literature in association with consistent phenotype of mild hypothyroidism (growth retardation, relatively high birth length and weight, mild-to-moderate mental retardation, mild skeletal dysplasia, delayed dentition and constipation) and specific facial features. Milder outcomes for missense variants and more severe phenotype manifestations for truncating variants have been observed.\r\n\r\nMost of the variants are located in the last exon of the THRA isoform 1 (NM_199334.5; a shorter isoform) affecting the C-terminal ligand binding domain with nonsense and frameshift variants predicted to escape nonsense mediated decay. These variants are either de novo or inherited from an affected parent. A few pedigrees are also available with segregation data. Truncating variants appear to have near complete penetrance whereas missense variants may be associated with variable expressivity (Family C - PMID: 27144938).\r\n\r\nNote routine TFTs can be normal.\r\n\r\nWe have identified multiple individuals internally with pathogenic de novo variants in this gene and macrocytic anaemia.\r\n\r\nAMBER rating as only one lineage affected. However, the above patients tested through haematology. \nSources: Expert Review","entity_name":"THRA","entity_type":"gene"},{"created":"2025-08-18T11:15:58.270575+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THRA as ready","entity_name":"THRA","entity_type":"gene"},{"created":"2025-08-18T11:15:58.263303+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thra has been classified as Green List (High Evidence).","entity_name":"THRA","entity_type":"gene"},{"created":"2025-08-18T11:15:54.511957+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: THRA as Green List (high evidence)","entity_name":"THRA","entity_type":"gene"},{"created":"2025-08-18T11:15:54.505062+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thra has been classified as Green List (High Evidence).","entity_name":"THRA","entity_type":"gene"},{"created":"2025-08-18T11:15:46.558422+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"gene: THRA was added\ngene: THRA was added to Red cell disorders. Sources: Expert Review\nMode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: THRA were set to Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450\nReview for gene: THRA was set to GREEN\nAdded comment: Over 10 sequence variants (including truncating nonsense and frameshift as well as missense) have been reported in the literature in association with consistent phenotype of mild hypothyroidism (growth retardation, relatively high birth length and weight, mild-to-moderate mental retardation, mild skeletal dysplasia, delayed dentition and constipation) and specific facial features. Milder outcomes for missense variants and more severe phenotype manifestations for truncating variants have been observed.\r\n\r\nMost of the variants are located in the last exon of the THRA isoform 1 (NM_199334.5; a shorter isoform) affecting the C-terminal ligand binding domain with nonsense and frameshift variants predicted to escape nonsense mediated decay. These variants are either de novo or inherited from an affected parent. A few pedigrees are also available with segregation data. Truncating variants appear to have near complete penetrance whereas missense variants may be associated with variable expressivity (Family C - PMID: 27144938).\r\n\r\nNote routine TFTs can be normal.\r\n\r\nWe have identified multiple individuals internally with pathogenic de novo variants in this gene and macrocytic anaemia. \nSources: Expert Review","entity_name":"THRA","entity_type":"gene"},{"created":"2025-08-18T11:09:44.296944+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.221","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism congenital nongoitrous 6 (MIM 614450); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"THRA","entity_type":"gene"},{"created":"2025-08-18T10:53:50.442375+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2837","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: RUSC2: LIMITED by ClinGen but note multiple P/LP ClinVar submissions","entity_name":"RUSC2","entity_type":"gene"},{"created":"2025-08-18T10:49:11.982336+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.551","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome type IX to Alsahan-Harris syndrome, MIM#621307; Orofaciodigital syndrome type IX, MIM#258865","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:48:52.744049+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D32 were set to 24285566","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:48:25.183740+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBC1D32 as Green List (high evidence)","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:48:25.175757+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d32 has been classified as Green List (High Evidence).","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:48:04.125321+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.548","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D32: Added comment: PMIDs 31130284, 36826837 and 32573025: 6 fetuses from 5 unrelated families reported with a very severe fetal phenotype, characterised by brain abnormalities, including holoprosencephaly, anencephaly and ACC, and ocular defects including microphthalmia/anophthalmia and cyclopia. This has been given a separate MIM by OMIM but more likely represents the severe end of the spectrum of a broader ciliopathy phenotype.\r\n\r\nNote previous reports of individuals characterised as having OFD, similarly affected by midline brain abnormalities, including ACC, again supporting the notion of a spectrum.; Changed rating: GREEN; Changed publications: 24285566, 31130284, 36826837, 32573025; Changed phenotypes: Alsahan-Harris syndrome, MIM#621307, Orofaciodigital syndrome type IX, MIM#258865","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:44:37.878862+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome type IX, MIM#258865 to Orofaciodigital syndrome type IX, MIM#258865; Alsahan-Harris syndrome, MIM#621307; Retinitis pigmentosa 100, MIM# 621280","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:44:13.741653+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556; 31130284; 36826837; 40319332","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:43:45.034878+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D32: Added comment: PMIDs 31130284, 36826837 and 32573025: 6 fetuses from 5 unrelated families reported with a very severe fetal phenotype, characterised by brain abnormalities, including holoprosencephaly and anencephaly, and ocular defects including microphthalmia/anophthalmia and cyclopia. This has been given a separate MIM by OMIM but more likely represents the severe end of the spectrum of a broader ciliopathy phenotype. \r\n\r\nAt the milder end of the spectrum, note PMIDs 37768732 and 39930170, associating variants in this gene and RP.; Changed publications: 24285566, 32573025, 32060556, 31130284, 36826837, 40319332, 31130284, 36826837, 37768732, 39930170; Changed phenotypes: Orofaciodigital syndrome type IX, MIM#258865, Alsahan-Harris syndrome, MIM#621307, Retinitis pigmentosa 100, MIM# 621280","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:41:34.593616+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.221","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBC1D32 as ready","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:41:34.583954+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.221","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d32 has been classified as Green List (High Evidence).","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:41:29.676674+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.221","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBC1D32 as Green List (high evidence)","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:41:29.667198+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.221","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d32 has been classified as Green List (High Evidence).","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:41:07.007281+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.220","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TBC1D32 was added\ngene: TBC1D32 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D32 were set to 24285566; 32573025; 32060556; 31130284; 36826837; 40319332\nPhenotypes for gene: TBC1D32 were set to Orofacial digital syndrome type IX, MIM#258865\nReview for gene: TBC1D32 was set to GREEN\nAdded comment: Multiple affected individuals reported from unrelated families. Midline brain abnormalities are a feature and DD/ID is variable. \nSources: Expert Review","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:36:41.108610+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBC1D32 as ready","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:36:41.097416+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d32 has been classified as Green List (High Evidence).","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:36:23.537602+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBC1D32 as Green List (high evidence)","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:36:23.524703+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d32 has been classified as Green List (High Evidence).","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:36:00.293513+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D32: Changed rating: GREEN","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:35:47.874883+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TBC1D32 was added\ngene: TBC1D32 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Expert Review\nMode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D32 were set to 31130284; 36826837; 32573025\nPhenotypes for gene: TBC1D32 were set to Alsahan-Harris syndrome, MIM#621307; Orofaciodigital syndrome type IX, MIM#258865\nAdded comment: PMIDs 31130284, 36826837 and 32573025: 6 fetuses from 5 unrelated families reported with a very severe fetal phenotype, characterised by brain abnormalities, including holoprosencephaly and anencephaly, and ocular defects including microphthalmia/anophthalmia and cyclopia. This has been given a separate MIM by OMIM but more likely represents the severe end of the spectrum of a broader ciliopathy phenotype.\r\n\r\nNote previous reports of individuals characterised as having OFD, similarly affected by midline brain abnormalities, again supporting the notion of a spectrum. \nSources: Expert Review","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:28:46.245261+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBC1D32 as ready","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:28:46.234773+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d32 has been classified as Green List (High Evidence).","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:28:42.087033+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBC1D32 as Green List (high evidence)","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:28:42.076919+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d32 has been classified as Green List (High Evidence).","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:28:21.922992+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TBC1D32 was added\ngene: TBC1D32 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review\nMode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D32 were set to 31130284; 36826837; 32573025\nPhenotypes for gene: TBC1D32 were set to Alsahan-Harris syndrome, MIM#621307\nReview for gene: TBC1D32 was set to GREEN\nAdded comment: PMIDs 31130284, 36826837 and 32573025: 6 fetuses from 5 unrelated families reported with a very severe fetal phenotype, characterised by brain abnormalities, including holoprosencephaly and anencephaly, and ocular defects including microphthalmia/anophthalmia and cyclopia. This has been given a separate MIM by OMIM but more likely represents the severe end of the spectrum of a broader ciliopathy phenotype. \nSources: Expert Review","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:25:04.610711+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2837","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556; 31130284; 37768732; 39930170; 36826837; 40319332","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:24:49.852348+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2836","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome type IX, MIM#258865; syndromic hypopituitarism; Retinitis pigmentosa 100, MIM# 621280 to Orofaciodigital syndrome type IX, MIM#258865; Alsahan-Harris syndrome, MIM#621307; Retinitis pigmentosa 100, MIM# 621280","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:24:01.584905+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2835","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D32: Added comment: PMIDs 31130284, 36826837 and 32573025: 6 fetuses from 5 unrelated families reported with a very severe fetal phenotype, characterised by brain abnormalities, including holoprosencephaly and anencephaly, and ocular defects including microphthalmia/anophthalmia and cyclopia. This has been given a separate MIM by OMIM but more likely represents the severe end of the spectrum of a broader ciliopathy phenotype.; Changed publications: 24285566, 32573025, 32060556, 31130284, 39930170, 36826837, 40319332, 31130284, 36826837; Changed phenotypes: Orofaciodigital syndrome type IX, MIM#258865, Retinitis pigmentosa 100, MIM# 621280, Alsahan-Harris syndrome, MIM#621307","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:21:53.388616+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.392","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome type IX, MIM#258865 to Alsahan-Harris syndrome, MIM#621307; Orofaciodigital syndrome type IX, MIM#258865","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:21:42.444501+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.391","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556; 31130284; 36826837; 40319332","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:21:27.628349+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.390","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D32: Changed publications: 31130284, 32573025, 36826837, 24285566, 32060556, 31130284, 39930170, 36826837, 40319332","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:21:05.063860+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.390","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D32: Changed phenotypes: Alsahan-Harris syndrome, MIM#621307, Orofaciodigital syndrome type IX, MIM#258865","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:20:46.836859+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.390","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D32: Added comment: In addition, 6 fetuses from 5 unrelated families reported with a very severe fetal phenotype, characterised by severe brain defects, including holoprosencephaly and anencephaly, and ocular defects including microphthalmia/anophthalmia and cyclopia. This has been given a separate MIM by OMIM but more likely represents the severe end of the spectrum of a broader ciliopathy phenotype.; Changed publications: 31130284, 32573025, 36826837; Changed phenotypes: Alsahan-Harris syndrome, MIM#621307","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:16:06.903407+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.390","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBC1D32 were changed from Orofacial digital syndrome type IX to Orofaciodigital syndrome type IX, MIM#258865","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:15:52.814277+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.389","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D32 were set to 32573025; 32060556; 31130284","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-18T10:15:37.098354+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.388","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D32: Added comment: PMIDs 36826837 and 40319332: four more individuals reported with OFD phenotype.; Changed publications: 24285566, 32573025, 32060556, 31130284, 36826837, 40319332; Changed phenotypes: Orofaciodigital syndrome type IX, MIM#258865","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-17T17:44:26.000905+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2835","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome type IX; syndromic hypopituitarism; Retinitis pigmentosa 100, MIM# 621280 to Orofaciodigital syndrome type IX, MIM#258865; syndromic hypopituitarism; Retinitis pigmentosa 100, MIM# 621280","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-17T17:43:53.728920+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2834","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556; 31130284; 37768732; 39930170","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-17T17:43:32.087513+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2833","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D32: Added comment: PMIDs 36826837 and 40319332: four more individuals reported with OFD phenotype.; Changed publications: 24285566, 32573025, 32060556, 31130284, 39930170, 36826837, 40319332; Changed phenotypes: Orofaciodigital syndrome type IX, MIM#258865, syndromic hypopituitarism, Retinitis pigmentosa 100, MIM# 621280","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-17T17:42:14.516430+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome type IX to Orofaciodigital syndrome type IX, MIM#258865","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-17T17:41:48.180914+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556; 31130284","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-17T17:41:12.789984+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D32: Added comment: PMIDs 36826837 and 40319332: four more individuals reported.; Changed publications: 24285566, 32573025, 32060556, 31130284, 36826837, 40319332","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-17T17:40:01.634688+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBC1D32: Changed phenotypes: Orofaciodigital syndrome type IX, MIM#258865","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-08-15T09:33:43.964046+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.548","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: HYLS1 as Green List (high evidence)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:33:43.941292+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.548","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hyls1 has been classified as Green List (High Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:33:33.461513+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.315","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: HYLS1 as Green List (high evidence)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:33:33.449335+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.315","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hyls1 has been classified as Green List (High Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:33:20.384841+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.287","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: HYLS1 as Green List (high evidence)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:33:20.373677+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.287","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hyls1 has been classified as Green List (High Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:33:13.825736+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.128","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: HYLS1 as Green List (high evidence)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:33:13.813911+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.128","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hyls1 has been classified as Green List (High Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:33:08.812862+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.233","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: HYLS1 as Green List (high evidence)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:33:08.801278+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.233","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hyls1 has been classified as Green List (High Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:32:34.447135+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.388","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome MONDO:0006037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:32:14.077802+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.232","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome MONDO:0006037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:31:45.048959+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.127","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome MONDO:0006037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:30:49.235915+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.286","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome MONDO:0006037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:30:00.286815+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.314","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome MONDO:0006037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:29:23.370868+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.265","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome MONDO:0006037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:28:47.707040+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.547","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome MONDO:0006037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2025-08-15T09:23:05.415357+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.217","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SLC9A1 as Green List (high evidence)","entity_name":"SLC9A1","entity_type":"gene"}]}