{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1180","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1178","results":[{"created":"2021-10-24T16:51:04.055945+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: None","entity_name":"CABP4","entity_type":"gene"},{"created":"2021-10-24T16:46:16.707870+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9449","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATF6 as ready","entity_name":"ATF6","entity_type":"gene"},{"created":"2021-10-24T16:46:16.698394+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9449","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atf6 has been classified as Green List (High Evidence).","entity_name":"ATF6","entity_type":"gene"},{"created":"2021-10-24T16:46:08.951149+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9449","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATF6 were changed from  to Achromatopsia 7, MIM#616517","entity_name":"ATF6","entity_type":"gene"},{"created":"2021-10-24T16:45:51.692526+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9448","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATF6 were set to ","entity_name":"ATF6","entity_type":"gene"},{"created":"2021-10-24T16:45:34.096452+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9447","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATF6","entity_type":"gene"},{"created":"2021-10-24T16:45:06.337357+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9446","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26063662, 26029869; Phenotypes: Achromatopsia 7, MIM#616517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATF6","entity_type":"gene"},{"created":"2021-10-24T16:44:11.969159+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATF6 as ready","entity_name":"ATF6","entity_type":"gene"},{"created":"2021-10-24T16:44:11.959337+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atf6 has been classified as Green List (High Evidence).","entity_name":"ATF6","entity_type":"gene"},{"created":"2021-10-24T16:44:04.240395+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achromatopsia 7, MIM#616517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATF6","entity_type":"gene"},{"created":"2021-10-24T16:42:48.813831+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP3B1 as ready","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-10-24T16:42:48.804775+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap3b1 has been classified as Green List (High Evidence).","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-10-24T16:42:45.826472+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP3B1 were changed from Hermansky-Pudlak syndrome 2 608233 AR to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-10-24T16:42:36.127605+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP3B1 were set to ","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-10-24T16:42:24.896670+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association, oculo-cutaneous albinism and platelet defects.; to: Well established gene-disease association, oculo-cutaneous albinism and platelet defects. Nystagmus is a feature.","entity_name":"AP3B1","entity_type":"gene"},{"created":"2021-10-24T16:41:58.538830+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:AIPL1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-10-24T16:40:55.551404+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9446","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AIPL1 as ready","entity_name":"AIPL1","entity_type":"gene"},{"created":"2021-10-24T16:40:55.539030+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9446","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aipl1 has been classified as Green List (High Evidence).","entity_name":"AIPL1","entity_type":"gene"},{"created":"2021-10-24T16:40:49.038565+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9446","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AIPL1 were changed from  to Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393","entity_name":"AIPL1","entity_type":"gene"},{"created":"2021-10-24T16:40:32.353646+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9445","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AIPL1 were set to ","entity_name":"AIPL1","entity_type":"gene"},{"created":"2021-10-24T16:40:16.392238+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9444","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AIPL1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"AIPL1","entity_type":"gene"},{"created":"2021-10-24T16:39:59.058587+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9443","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615133; Phenotypes: Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"AIPL1","entity_type":"gene"},{"created":"2021-10-24T16:38:24.322442+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AIPL1 as ready","entity_name":"AIPL1","entity_type":"gene"},{"created":"2021-10-24T16:38:24.312520+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aipl1 has been classified as Green List (High Evidence).","entity_name":"AIPL1","entity_type":"gene"},{"created":"2021-10-24T16:38:22.529325+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AIPL1 were changed from  to Leber congenital amaurosis 4, MIM# 604393","entity_name":"AIPL1","entity_type":"gene"},{"created":"2021-10-24T16:38:15.548017+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AIPL1 were set to ","entity_name":"AIPL1","entity_type":"gene"},{"created":"2021-10-24T16:38:09.002636+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AIPL1 was changed from  to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AIPL1","entity_type":"gene"},{"created":"2021-10-24T16:38:00.108327+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615133; Phenotypes: Leber congenital amaurosis 4, MIM# 604393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AIPL1","entity_type":"gene"},{"created":"2021-10-24T16:33:57.755677+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: GNAS-AS1.","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:33:40.317427+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9443","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: GNAS-AS1.","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:33:31.337696+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9443","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAS-AS1 as ready","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:33:31.328364+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9443","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas-as1 has been classified as Red List (Low Evidence).","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:33:24.850752+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9443","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNAS-AS1 were changed from  to Pseudohypoparathyroidism type 1b MIM no: 603233","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:33:02.595910+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9442","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNAS-AS1 were set to ","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:32:44.793321+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9441","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNAS-AS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:32:26.020778+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9440","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNAS-AS1 as Red List (low evidence)","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:32:26.011202+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9440","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas-as1 has been classified as Red List (Low Evidence).","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:32:07.212463+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9439","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNAS-AS1: Rating: RED; Mode of pathogenicity: None; Publications: 22378814, 15592469, 29959430, 25005734; Phenotypes: Pseudohypoparathyroidism type 1b MIM no: 603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:31:11.056360+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAS-AS1 as ready","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:31:11.043121+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas-as1 has been classified as Red List (Low Evidence).","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:31:08.393494+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNAS-AS1 were changed from  to Pseudohypoparathyroidism type 1b MIM no: 603233","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:30:45.409099+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNAS-AS1 were set to ","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:30:17.073385+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNAS-AS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:29:37.990333+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNAS-AS1 as Red List (low evidence)","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:29:37.978576+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas-as1 has been classified as Red List (Low Evidence).","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:29:12.247136+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNAS-AS1: Rating: RED; Mode of pathogenicity: None; Publications: 22378814, 15592469, 29959430, 25005734; Phenotypes: Pseudohypoparathyroidism type 1b MIM no: 603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:27:52.106909+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAS-AS1 as ready","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:27:52.097111+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas-as1 has been classified as Red List (Low Evidence).","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:27:46.847479+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: GNAS-AS1.","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:27:38.625719+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNAS-AS1 as Red List (low evidence)","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T16:27:38.616287+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas-as1 has been classified as Red List (Low Evidence).","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-24T12:56:33.830385+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9439","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome; Spermatogenic failure 58, MIM#\t619585","entity_name":"IFT74","entity_type":"gene"},{"created":"2021-10-24T12:56:08.535926+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9438","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT74 were set to 27486776; 32144365; 33531668","entity_name":"IFT74","entity_type":"gene"},{"created":"2021-10-24T12:55:46.667085+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9437","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT74: Added comment: Limited evidence for association with spermatogenic failure: two unrelated individuals with same homozygous missense variant.; Changed publications: 27486776, 32144365, 33531668, 33689014; Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome, Spermatogenic failure 58, MIM# 619585","entity_name":"IFT74","entity_type":"gene"},{"created":"2021-10-22T13:26:28.780400+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.2","user_name":"Anna Le Fevre","item_type":"entity","text":"changed review comment from: Single report of a AD-PHP-Ib kindred with a maternally inherited deletion limited to GNAS-AS1 (Chillambhi et al 2010). Further reports of maternally inherited deletions including regions of both GNAS-AS1 and exon NESP55.\r\n\r\nNote, this non-coding RNA is paternally expressed, but causative deletions have been maternally inherited. \r\n\r\nReports of two AD-PHP-Ib kindreds with 4-kb microdeletions comprising the entire NESP55 DMR. These include exon NESP55 (GNAS encoded) and exons 3 and 4 of the GNAS antisense transcript. It remains unknown whether the observed imprinting changes and PTH resistance in these patients result from the loss of NESP55 expression or the loss of the deleted genomic region.\r\n\r\nChillambhi et al reported a AD-PHP-Ib kindred and identified a novel deletion that exclusively affects exons encoding the GNAS-AS. Overlapping with the previously identified deletions by approximately 1.5 kb. Unlike the previously identified deletions associated with AD-PHP-Ib, the novel deletion not only disrupts methylation of three GNAS DMRs (A/B, AS, and XL) after maternal transmission but also appears to partially alter methylation of the NESP55 and the A/B DMRs after paternal transmission, revealing a novel cis-acting mechanism that governs imprinting on both parental alleles.\r\n\r\nRezwan et al reported two further families with 33bp and 40bp deletions intronic to both NESP55 and NESP-AS. These were not definitively causative of the phenotype in the family. \nSources: Literature; to: Single report of a AD-PHP-Ib kindred with a maternally inherited deletion limited to GNAS-AS1 (Chillambhi et al 2010). Further reports of maternally inherited deletions including regions of both GNAS-AS1 and exon NESP55. Although deletions in this region appear to be causative of AD-PHP-Ib, evidence for deletions limited to only GNAS-AS1 is limited to date. \r\n\r\nNote, this non-coding RNA is paternally expressed, but causative deletions have been maternally inherited. \r\n\r\nReports of two AD-PHP-Ib kindreds with 4-kb microdeletions comprising the entire NESP55 DMR. These include exon NESP55 (GNAS encoded) and exons 3 and 4 of the GNAS antisense transcript. It remains unknown whether the observed imprinting changes and PTH resistance in these patients result from the loss of NESP55 expression or the loss of the deleted genomic region.\r\n\r\nChillambhi et al reported a AD-PHP-Ib kindred and identified a novel deletion that exclusively affects exons encoding the GNAS-AS. Overlapping with the previously identified deletions by approximately 1.5 kb. Unlike the previously identified deletions associated with AD-PHP-Ib, the novel deletion not only disrupts methylation of three GNAS DMRs (A/B, AS, and XL) after maternal transmission but also appears to partially alter methylation of the NESP55 and the A/B DMRs after paternal transmission, revealing a novel cis-acting mechanism that governs imprinting on both parental alleles.\r\n\r\nRezwan et al reported two further families with 33bp and 40bp deletions intronic to both NESP55 and NESP-AS. These were not definitively causative of the phenotype in the family. \r\nSources: Literature","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-22T13:23:08.067042+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.2","user_name":"Anna Le Fevre","item_type":"entity","text":"gene: GNAS-AS1 was added\ngene: GNAS-AS1 was added to Imprinting disorders. Sources: Literature\nMode of inheritance for gene: GNAS-AS1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: GNAS-AS1 were set to PMID: 22378814; 15592469; 29959430; 25005734\nPhenotypes for gene: GNAS-AS1 were set to Pseudohypoparathyroidism type 1b MIM no: 603233\nReview for gene: GNAS-AS1 was set to RED\nAdded comment: Single report of a AD-PHP-Ib kindred with a maternally inherited deletion limited to GNAS-AS1 (Chillambhi et al 2010). Further reports of maternally inherited deletions including regions of both GNAS-AS1 and exon NESP55.\r\n\r\nNote, this non-coding RNA is paternally expressed, but causative deletions have been maternally inherited. \r\n\r\nReports of two AD-PHP-Ib kindreds with 4-kb microdeletions comprising the entire NESP55 DMR. These include exon NESP55 (GNAS encoded) and exons 3 and 4 of the GNAS antisense transcript. It remains unknown whether the observed imprinting changes and PTH resistance in these patients result from the loss of NESP55 expression or the loss of the deleted genomic region.\r\n\r\nChillambhi et al reported a AD-PHP-Ib kindred and identified a novel deletion that exclusively affects exons encoding the GNAS-AS. Overlapping with the previously identified deletions by approximately 1.5 kb. Unlike the previously identified deletions associated with AD-PHP-Ib, the novel deletion not only disrupts methylation of three GNAS DMRs (A/B, AS, and XL) after maternal transmission but also appears to partially alter methylation of the NESP55 and the A/B DMRs after paternal transmission, revealing a novel cis-acting mechanism that governs imprinting on both parental alleles.\r\n\r\nRezwan et al reported two further families with 33bp and 40bp deletions intronic to both NESP55 and NESP-AS. These were not definitively causative of the phenotype in the family. \nSources: Literature","entity_name":"GNAS-AS1","entity_type":"gene"},{"created":"2021-10-22T09:26:31.686716+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9437","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SFTPC as ready","entity_name":"SFTPC","entity_type":"gene"},{"created":"2021-10-22T09:26:31.677695+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9437","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpc has been classified as Green List (High Evidence).","entity_name":"SFTPC","entity_type":"gene"},{"created":"2021-10-22T09:26:23.570681+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9437","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SFTPC were changed from  to Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913","entity_name":"SFTPC","entity_type":"gene"},{"created":"2021-10-22T09:26:05.257570+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9436","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SFTPC were set to ","entity_name":"SFTPC","entity_type":"gene"},{"created":"2021-10-22T09:25:44.351082+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9435","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SFTPC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SFTPC","entity_type":"gene"},{"created":"2021-10-22T09:25:05.420682+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9434","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11207353, 11991887, 11893657, 15557112, 19443464; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SFTPC","entity_type":"gene"},{"created":"2021-10-22T09:21:17.963165+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9434","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SFTPB as ready","entity_name":"SFTPB","entity_type":"gene"},{"created":"2021-10-22T09:21:17.953231+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9434","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpb has been classified as Green List (High Evidence).","entity_name":"SFTPB","entity_type":"gene"},{"created":"2021-10-22T09:21:08.773637+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9434","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SFTPB were changed from  to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120","entity_name":"SFTPB","entity_type":"gene"},{"created":"2021-10-22T09:19:43.434132+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9433","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SFTPB were set to ","entity_name":"SFTPB","entity_type":"gene"},{"created":"2021-10-22T09:19:25.906911+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9432","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SFTPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SFTPB","entity_type":"gene"},{"created":"2021-10-22T09:19:09.271763+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9431","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8163685, 8021783, 10378403, 10571948; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SFTPB","entity_type":"gene"},{"created":"2021-10-22T09:16:12.367166+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9431","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SFTPA2 as ready","entity_name":"SFTPA2","entity_type":"gene"},{"created":"2021-10-22T09:16:12.353480+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9431","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpa2 has been classified as Green List (High Evidence).","entity_name":"SFTPA2","entity_type":"gene"},{"created":"2021-10-22T09:16:02.708599+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9431","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SFTPA2 were changed from  to Pulmonary fibrosis, idiopathic, MIM# 178500","entity_name":"SFTPA2","entity_type":"gene"},{"created":"2021-10-22T09:15:42.411377+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9430","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SFTPA2 were set to ","entity_name":"SFTPA2","entity_type":"gene"},{"created":"2021-10-22T09:15:24.253896+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9429","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SFTPA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SFTPA2","entity_type":"gene"},{"created":"2021-10-22T09:15:07.472342+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9428","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SFTPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19100526, 32602668; Phenotypes: Pulmonary fibrosis, idiopathic, MIM# 178500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SFTPA2","entity_type":"gene"},{"created":"2021-10-21T18:35:08.732566+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9428","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SFTPD as ready","entity_name":"SFTPD","entity_type":"gene"},{"created":"2021-10-21T18:35:08.717697+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9428","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpd has been classified as Red List (Low Evidence).","entity_name":"SFTPD","entity_type":"gene"},{"created":"2021-10-21T18:34:59.078148+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9428","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SFTPD were changed from  to Interstitial lung disease","entity_name":"SFTPD","entity_type":"gene"},{"created":"2021-10-21T18:34:42.425427+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9427","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SFTPD were set to ","entity_name":"SFTPD","entity_type":"gene"},{"created":"2021-10-21T18:34:26.710246+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9426","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SFTPD as Red List (low evidence)","entity_name":"SFTPD","entity_type":"gene"},{"created":"2021-10-21T18:34:26.699114+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sftpd has been classified as Red List (Low Evidence).","entity_name":"SFTPD","entity_type":"gene"},{"created":"2021-10-21T18:34:10.385199+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9425","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SFTPD: Rating: RED; Mode of pathogenicity: None; Publications: 9751757; Phenotypes: Interstitial lung disease; Mode of inheritance: None","entity_name":"SFTPD","entity_type":"gene"},{"created":"2021-10-21T18:25:52.505082+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC7A7 as ready","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2021-10-21T18:25:52.488444+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc7a7 has been classified as Green List (High Evidence).","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2021-10-21T18:25:48.553846+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC7A7 were set to ","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2021-10-21T18:25:36.267483+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10080182, 18716612; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2021-10-21T18:24:20.658082+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9425","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC7A7 as ready","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2021-10-21T18:24:20.647337+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9425","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc7a7 has been classified as Green List (High Evidence).","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2021-10-21T18:24:11.032548+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9425","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC7A7 were changed from  to Lysinuric protein intolerance, MIM# 222700","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2021-10-21T18:23:49.626606+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9424","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC7A7 were set to ","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2021-10-21T18:23:29.165021+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9423","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC7A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2021-10-21T18:23:11.373135+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9422","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10080182, 18716612; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC7A7","entity_type":"gene"},{"created":"2021-10-21T06:31:37.342822+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JAG2 were changed from muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566; muscular dystrophy","entity_name":"JAG2","entity_type":"gene"},{"created":"2021-10-21T06:31:05.045661+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: JAG2: Changed phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566, muscular dystrophy","entity_name":"JAG2","entity_type":"gene"},{"created":"2021-10-21T06:30:43.884210+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9422","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JAG2 were changed from muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566; muscular dystrophy","entity_name":"JAG2","entity_type":"gene"},{"created":"2021-10-21T06:30:20.994683+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9421","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JAG2","entity_type":"gene"},{"created":"2021-10-21T06:27:52.475870+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9421","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STX16 as ready","entity_name":"STX16","entity_type":"gene"},{"created":"2021-10-21T06:27:52.465490+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9421","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stx16 has been classified as Green List (High Evidence).","entity_name":"STX16","entity_type":"gene"},{"created":"2021-10-21T06:27:44.395639+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9421","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STX16 were changed from  to Pseudohypoparathyroidism type 1b MIM#: 603233","entity_name":"STX16","entity_type":"gene"},{"created":"2021-10-21T06:27:21.330825+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9420","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STX16 were set to ","entity_name":"STX16","entity_type":"gene"},{"created":"2021-10-21T06:27:03.586792+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9419","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STX16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"STX16","entity_type":"gene"}]}