{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=830","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=828","results":[{"created":"2022-05-20T09:54:56.440342+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.447","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-20T09:54:40.890644+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4792","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-20T09:50:48.505717+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14651","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: LINS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32802957, 34450347, 32499722, 31922598; Phenotypes: Intellectual developmental disorder, autosomal recessive 27, MIM# 614340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LINS1","entity_type":"gene"},{"created":"2022-05-20T09:48:41.547826+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14651","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 - MIM#604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:46:16.817257+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14651","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ADD1 as Green List (high evidence)","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-20T09:46:16.805477+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14651","user_name":"Chirag Patel","item_type":"entity","text":"Gene: add1 has been classified as Green List (High Evidence).","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-20T09:45:58.449953+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14650","user_name":"Chirag Patel","item_type":"entity","text":"gene: ADD1 was added\ngene: ADD1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ADD1 were set to PMID: 34906466\nPhenotypes for gene: ADD1 were set to Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM #\nReview for gene: ADD1 was set to GREEN\nAdded comment: 4 unrelated individuals affected by ID and/or complete or partial agenesis of corpus callosum, and enlarged lateral ventricles. WES found loss-of-function variants - 1 recessive missense variant and 3 de novo variants. The recessive variant is associated with ACC and enlarged lateral ventricles, and the de novo variants were associated with complete or partial agenesis of corpus callosum, mild ID and attention deficit. Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes. Three adducin genes (ADD1, ADD2, and ADD3) encode cytoskeleton proteins that are critical for osmotic rigidity and cell shape. ADD1, ADD2, and ADD3 form heterodimers (ADD1/ADD2, ADD1/ADD3), which further form heterotetramers. Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown \nSources: Literature","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-20T09:42:18.593780+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14649","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: AVP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 6526016, 1840604, 8554046; Phenotypes: Diabetes insipidus, neurohypophyseal MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AVP","entity_type":"gene"},{"created":"2022-05-20T09:41:50.199002+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.822","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATPAF2 as Red List (low evidence)","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:41:50.181432+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.822","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atpaf2 has been classified as Red List (Low Evidence).","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:41:26.060705+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14649","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: AURKC as Red List (low evidence)","entity_name":"AURKC","entity_type":"gene"},{"created":"2022-05-20T09:41:26.049240+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14649","user_name":"Chirag Patel","item_type":"entity","text":"Gene: aurkc has been classified as Red List (Low Evidence).","entity_name":"AURKC","entity_type":"gene"},{"created":"2022-05-20T09:41:24.979612+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14649","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: AURKC as Red List (low evidence)","entity_name":"AURKC","entity_type":"gene"},{"created":"2022-05-20T09:41:24.963864+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14649","user_name":"Chirag Patel","item_type":"entity","text":"Gene: aurkc has been classified as Red List (Low Evidence).","entity_name":"AURKC","entity_type":"gene"},{"created":"2022-05-20T09:41:11.801872+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14649","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: AURKC as Red List (low evidence)","entity_name":"AURKC","entity_type":"gene"},{"created":"2022-05-20T09:41:11.789605+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14649","user_name":"Chirag Patel","item_type":"entity","text":"Gene: aurkc has been classified as Red List (Low Evidence).","entity_name":"AURKC","entity_type":"gene"},{"created":"2022-05-20T09:40:52.257434+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.823","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATPAF2 as Red List (low evidence)","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:40:52.241261+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.823","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atpaf2 has been classified as Red List (Low Evidence).","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:40:18.204720+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.822","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATPAF2 as Red List (low evidence)","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:40:18.186157+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.822","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atpaf2 has been classified as Red List (Low Evidence).","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:39:45.899471+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.822","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATPAF2 as Red List (low evidence)","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:39:45.845116+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.822","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atpaf2 has been classified as Red List (Low Evidence).","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:39:32.897337+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14648","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: AURKC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 5 , OMIM #243060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AURKC","entity_type":"gene"},{"created":"2022-05-20T09:39:01.063108+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.822","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATPAF2 as Red List (low evidence)","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:39:01.033230+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.822","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atpaf2 has been classified as Red List (Low Evidence).","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:37:10.184187+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.822","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATPAF2 as Red List (low evidence)","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:37:10.132140+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.822","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atpaf2 has been classified as Red List (Low Evidence).","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:37:00.702698+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14648","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATPAF2 as Red List (low evidence)","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:37:00.691108+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14648","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atpaf2 has been classified as Red List (Low Evidence).","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:36:56.894478+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14648","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATPAF2 as Red List (low evidence)","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:36:56.882851+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14648","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atpaf2 has been classified as Red List (Low Evidence).","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:36:27.666379+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14647","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:36:27.093219+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.447","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATPAF2 as Red List (low evidence)","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:36:27.081141+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.447","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atpaf2 has been classified as Red List (Low Evidence).","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:36:07.936394+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.821","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:36:03.525873+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.447","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATPAF2 as Red List (low evidence)","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:36:03.500701+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.447","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atpaf2 has been classified as Red List (Low Evidence).","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:35:31.262587+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.446","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:35:26.723364+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.476","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATPAF2 as Red List (low evidence)","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:35:26.710264+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.476","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atpaf2 has been classified as Red List (Low Evidence).","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:34:57.855638+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.475","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:34:24.652152+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.129","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ATPAF2 as Red List (low evidence)","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:34:24.639244+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.129","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atpaf2 has been classified as Red List (Low Evidence).","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:34:17.052408+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.128","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-20T09:29:52.456477+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14647","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ATP6V1E1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28065471, 27023906; Phenotypes: Cutis laxa, autosomal recessive, type IIC MIM#617402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP6V1E1","entity_type":"gene"},{"created":"2022-05-20T09:28:19.969921+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14647","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32040565; Phenotypes: Brody myopathy, OMIM # 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP2A1","entity_type":"gene"},{"created":"2022-05-20T09:26:27.806761+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14647","user_name":"Chirag Patel","item_type":"entity","text":"commented on gene: GJA5: Gollob et al. (2006) presented evidence that tissue-specific mutations in the GJA5 gene may predispose the atria to fibrillation. They identified a heterozygous missense mutation in blood and cardiac tissue in patient with AF. They also found 3 heterozygous missense mutations in cardiac tissue only in 3 other patients, indicating a somatic source of the genetic defects\r\n\r\nYang et al. (2010) identified a heterozygous nonsense mutationin a 64-year-old female patient who was diagnosed with paroxysmal AF at 32 years of age. The mutation was detected in 6 additional affected family members, but was not found in 6 unaffected family members or in 200 ethnically matched controls.\r\n\r\nYang et al. (2010) identified 3 heterozygous missense mutations in 3 probands with AF. The mutations segregated with disease in all 3 families and were not found in 200 ethnically matched controls.\r\n\r\nSun et al. (2013) identified a heterozygous missense mutation in a 42-year-old woman who had been diagnosed with AF at age 40 years. The mutation was also detected in her father, who had been diagnosed with lone AF at 41 years of age, but it was not found in unaffected family members, in 200 controls, or in the dbSNP database. Functional analysis demonstrated that the I75F mutant is unable to form functional gap junction channels and also impairs coupling when expressed with wildtype CX40 or CX43.","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-20T09:26:27.444394+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14647","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: GJA5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16790700,  20818502, 20650941, 23348765; Phenotypes: Atrial fibrillation, familial, 11, OMIM# 614049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-20T09:26:26.711290+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.12","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: GJA5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16790700,  20818502, 20650941, 23348765; Phenotypes: Atrial fibrillation, familial, 11, OMIM# 614049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-20T08:30:20.529792+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.340","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: GEMIN4 as Green List (high evidence)","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2022-05-20T08:30:20.517794+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.340","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gemin4 has been classified as Green List (High Evidence).","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2022-05-20T08:29:40.434192+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14647","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25558065, 30237576, 27878435; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2022-05-20T08:29:39.405441+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.339","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25558065, 30237576, 27878435; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2022-05-20T08:29:19.352251+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4792","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: GEMIN4 as Green List (high evidence)","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2022-05-20T08:29:19.340081+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4792","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gemin4 has been classified as Green List (High Evidence).","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2022-05-20T08:28:43.742988+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4791","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25558065, 30237576, 27878435; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2022-05-20T08:26:57.751816+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14647","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJB2 as ready","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-05-20T08:26:57.739342+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14647","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjb2 has been classified as Green List (High Evidence).","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-05-20T08:26:49.030731+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14647","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJB2 were changed from  to Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-05-20T08:26:21.996454+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14646","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GJB2 were set to ","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-05-20T08:25:44.821262+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14645","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJB2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-05-20T08:24:39.052147+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14644","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJB3 as ready","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-20T08:24:39.038945+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14644","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjb3 has been classified as Green List (High Evidence).","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-20T08:24:30.418101+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14644","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJB3 were changed from  to Erythrokeratodermia variabilis et progressiva 1, MIM# 133200","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-20T08:24:08.619516+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14643","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GJB3 were set to ","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-20T08:23:44.963981+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14642","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11179004, 9529365, 14985372, 19941053, 11354642; Phenotypes: Bart-Pumphrey syndrome, MIM#149200, Deafness, autosomal dominant 3A, MIM#601544, Deafness, autosomal recessive 1A, MIM#220290, Hystrix-like ichthyosis with deafness, MIM#602540, Keratitis-ichthyosis-deafness syndrome, MIM#148210, Keratoderma, palmoplantar, with deafness, MIM#148350, Vohwinkel syndrome, MIM# 124500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-05-20T08:23:32.918768+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.120","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11179004; Phenotypes: Bart-Pumphrey syndrome, MIM#149200, Deafness, autosomal dominant 3A, MIM#601544, Deafness, autosomal recessive 1A, MIM#220290, Hystrix-like ichthyosis with deafness, MIM#602540, Keratitis-ichthyosis-deafness syndrome, MIM#148210, Keratoderma, palmoplantar, with deafness, MIM#148350, Vohwinkel syndrome, MIM# 124500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-05-20T08:23:32.760228+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14642","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJB3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-20T08:23:13.327997+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14641","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJB3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-20T08:22:36.989758+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14640","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843209, 10594760, 10798362, 12019212; Phenotypes: Erythrokeratodermia variabilis et progressiva 1, MIM# 133200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-20T08:19:27.863290+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14640","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9843209, 10798362, 10594760, 17446259, 9843210; Phenotypes: Erythrokeratodermia variabilis et progressiva 1, OMIM #133200, Deafness, autosomal dominant 2B, OMIM # 612644; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-20T08:19:27.024946+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.120","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9843209, 10798362, 10594760, 17446259; Phenotypes: Erythrokeratodermia variabilis et progressiva 1, OMIM #133200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-20T08:11:31.282908+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14640","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27523599, 27677260, 28697420, 29368331; Phenotypes: Intellectual developmental disorder with cardiac arrhythmia, OMIM #617173, Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM # 617182, Early infantile epileptic encephalopathy (EIEE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNB5","entity_type":"gene"},{"created":"2022-05-19T20:52:35.504869+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14640","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJB4 as ready","entity_name":"GJB4","entity_type":"gene"},{"created":"2022-05-19T20:52:35.492801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14640","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjb4 has been classified as Green List (High Evidence).","entity_name":"GJB4","entity_type":"gene"},{"created":"2022-05-19T20:52:04.455125+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14640","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJB4 were changed from  to Erythrokeratodermia variabilis et progressiva 2, MIM# 617524","entity_name":"GJB4","entity_type":"gene"},{"created":"2022-05-19T20:51:41.541855+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14639","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GJB4 were set to ","entity_name":"GJB4","entity_type":"gene"},{"created":"2022-05-19T20:51:18.810456+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14638","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJB4","entity_type":"gene"},{"created":"2022-05-19T20:50:56.168557+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14637","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11017804, 12648223, 19291775; Phenotypes: Erythrokeratodermia variabilis et progressiva 2, MIM# 617524; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJB4","entity_type":"gene"},{"created":"2022-05-19T20:47:40.189735+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14637","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJB6 as ready","entity_name":"GJB6","entity_type":"gene"},{"created":"2022-05-19T20:47:40.172462+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14637","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjb6 has been classified as Green List (High Evidence).","entity_name":"GJB6","entity_type":"gene"},{"created":"2022-05-19T20:47:31.107268+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14637","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJB6 were changed from  to Deafness, autosomal dominant 3B, MIM# 612643; Deafness, autosomal recessive 1B, MIM# 612645; Ectodermal dysplasia 2, Clouston type, MIM# 129500","entity_name":"GJB6","entity_type":"gene"},{"created":"2022-05-19T20:47:09.361932+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14636","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GJB6 were set to ","entity_name":"GJB6","entity_type":"gene"},{"created":"2022-05-19T20:46:28.938549+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14635","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJB6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GJB6","entity_type":"gene"},{"created":"2022-05-19T20:46:03.926538+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14634","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: GJB6.","entity_name":"GJB6","entity_type":"gene"},{"created":"2022-05-19T20:45:51.663767+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14634","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11017065, 23219093, 11874494, 18717672, 27137747, 25808784, 19416251, 26620415, 17227867; Phenotypes: Deafness, autosomal dominant 3B, MIM# 612643, Deafness, autosomal recessive 1B, MIM# 612645, Ectodermal dysplasia 2, Clouston type, MIM# 129500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GJB6","entity_type":"gene"},{"created":"2022-05-19T20:40:13.961625+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14634","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GK as ready","entity_name":"GK","entity_type":"gene"},{"created":"2022-05-19T20:40:13.946851+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14634","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gk has been classified as Green List (High Evidence).","entity_name":"GK","entity_type":"gene"},{"created":"2022-05-19T20:40:00.688053+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14634","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GK were changed from  to Glycerol kinase deficiency MIM#307030; Disorders of glycerol metabolism","entity_name":"GK","entity_type":"gene"},{"created":"2022-05-19T20:39:29.726507+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14633","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GK were set to ","entity_name":"GK","entity_type":"gene"},{"created":"2022-05-19T20:39:08.891567+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14632","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GK","entity_type":"gene"},{"created":"2022-05-19T20:38:07.518841+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14631","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLCCI1 as ready","entity_name":"GLCCI1","entity_type":"gene"},{"created":"2022-05-19T20:38:07.507121+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14631","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glcci1 has been classified as Red List (Low Evidence).","entity_name":"GLCCI1","entity_type":"gene"},{"created":"2022-05-19T20:37:50.858602+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14631","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLCCI1 were changed from  to {Glucocorticoid therapy, response to} 614400","entity_name":"GLCCI1","entity_type":"gene"},{"created":"2022-05-19T20:37:27.539835+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14630","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLCCI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLCCI1","entity_type":"gene"},{"created":"2022-05-19T20:37:03.185478+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14629","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLCCI1 as Red List (low evidence)","entity_name":"GLCCI1","entity_type":"gene"},{"created":"2022-05-19T20:37:03.167727+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14629","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glcci1 has been classified as Red List (Low Evidence).","entity_name":"GLCCI1","entity_type":"gene"},{"created":"2022-05-19T20:36:42.441795+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14628","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GLCCI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Glucocorticoid therapy, response to} 614400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLCCI1","entity_type":"gene"},{"created":"2022-05-19T20:35:19.184258+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14628","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLE1 as ready","entity_name":"GLE1","entity_type":"gene"},{"created":"2022-05-19T20:35:19.171714+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14628","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gle1 has been classified as Green List (High Evidence).","entity_name":"GLE1","entity_type":"gene"}]}