{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=51","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=49","results":[{"created":"2026-01-26T14:03:38.947510+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4191","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nxf3 has been classified as Red List (Low Evidence).","entity_name":"NXF3","entity_type":"gene"},{"created":"2026-01-26T14:03:30.177230+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4191","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NXF3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NXF3","entity_type":"gene"},{"created":"2026-01-26T14:03:05.059614+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4190","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NXF3 was added\ngene: NXF3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NXF3 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: NXF3 were set to 40624043\nPhenotypes for gene: NXF3 were set to Spermatogenic failure, MONDO:0004983, NXF3-related\nReview for gene: NXF3 was set to RED\nAdded comment: PMID 40624043 reports a single individual with a hemizygous stop‑gain NXF3 variant inherited from a heterozygous carrier mother, presenting with severe oligoasthenoteratozoospermia. Functional studies show a truncated protein lacking the NTF2‑like domain, loss of binding to NXT2, and absence of NXF3 staining in sperm, supporting a loss‑of‑function mechanism. \nSources: Literature","entity_name":"NXF3","entity_type":"gene"},{"created":"2026-01-26T13:58:06.910921+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.633","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MED14 as ready","entity_name":"MED14","entity_type":"gene"},{"created":"2026-01-26T13:58:06.900215+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.633","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: med14 has been classified as Red List (Low Evidence).","entity_name":"MED14","entity_type":"gene"},{"created":"2026-01-26T13:57:50.646844+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.633","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MED14 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-26T13:57:50.238509+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.633","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MED14 was added\ngene: MED14 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature\nMode of inheritance for gene: MED14 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MED14 were set to PMID: 40597352\nPhenotypes for gene: MED14 were set to Neurodevelopmental disorder (MONDO:0700092), MED14-related","entity_name":"MED14","entity_type":"gene"},{"created":"2026-01-26T13:50:50.716636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4189","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, and immunodepression. Over 20 families reported.; to: Characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, and immunodepression. Over 20 families reported.\r\n\r\nNew HGNC approved name is SKIC3.","entity_name":"TTC37","entity_type":"gene"},{"created":"2026-01-26T13:50:25.911804+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4189","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: TTC37.","entity_name":"TTC37","entity_type":"gene"},{"created":"2026-01-26T13:46:23.115963+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4189","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 10 unrelated families reported.\r\n\r\nNewe HGNC approved name is DNAAF11.; to: More than 10 unrelated families reported.\r\n\r\nNew HGNC approved name is DNAAF11.","entity_name":"LRRC6","entity_type":"gene"},{"created":"2026-01-26T13:46:13.366886+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4189","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 10 unrelated families reported.; to: More than 10 unrelated families reported.\r\n\r\nNewe HGNC approved name is DNAAF11.","entity_name":"LRRC6","entity_type":"gene"},{"created":"2026-01-26T13:45:52.909580+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4189","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: LRRC6.","entity_name":"LRRC6","entity_type":"gene"},{"created":"2026-01-26T13:41:10.030880+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SUN5 as ready","entity_name":"SUN5","entity_type":"gene"},{"created":"2026-01-26T13:41:10.020677+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sun5 has been classified as Green List (High Evidence).","entity_name":"SUN5","entity_type":"gene"},{"created":"2026-01-26T13:40:51.009453+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene SUN5 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-26T13:40:50.943197+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SUN5 was added\ngene: SUN5 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SUN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUN5 were set to 34159570; 33671757; 27640305\nPhenotypes for gene: SUN5 were set to Spermatogenic failure, MONDO:0004983, SUN5-related","entity_name":"SUN5","entity_type":"gene"},{"created":"2026-01-26T13:40:36.101469+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4189","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SUN5 as ready","entity_name":"SUN5","entity_type":"gene"},{"created":"2026-01-26T13:40:36.090103+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sun5 has been classified as Green List (High Evidence).","entity_name":"SUN5","entity_type":"gene"},{"created":"2026-01-26T13:40:26.400124+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4189","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SUN5 as Green List (high evidence)","entity_name":"SUN5","entity_type":"gene"},{"created":"2026-01-26T13:40:26.389137+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sun5 has been classified as Green List (High Evidence).","entity_name":"SUN5","entity_type":"gene"},{"created":"2026-01-26T13:40:05.899938+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4188","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SUN5 was added\ngene: SUN5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SUN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUN5 were set to 34159570; 33671757; 27640305\nPhenotypes for gene: SUN5 were set to Spermatogenic failure, MONDO:0004983, SUN5-related\nReview for gene: SUN5 was set to GREEN\nAdded comment: SUN5 encodes a testis‑specific SUN‑domain protein that anchors the sperm head to the tail. Multiple independent studies have identified biallelic loss‑of‑function SUN5 variants in >30 individuals with acephalic spermatozoa syndrome. Functional studies—including Western blot, immunofluorescence, Sun5 knockout mouse models, HeLa splicing assays, Y2H/GST pull‑down and proteasome‑inhibition rescue—demonstrate loss of SUN5 protein and disrupted head‑tail coupling, supporting loss‑of‑function as the disease mechanism. \nSources: Literature","entity_name":"SUN5","entity_type":"gene"},{"created":"2026-01-26T13:38:09.983198+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.632","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPNS1 as ready","entity_name":"SPNS1","entity_type":"gene"},{"created":"2026-01-26T13:38:09.975822+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.632","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spns1 has been classified as Green List (High Evidence).","entity_name":"SPNS1","entity_type":"gene"},{"created":"2026-01-26T13:37:50.039282+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.632","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene SPNS1 from panel Lysosomal Storage Disorder","entity_name":null,"entity_type":null},{"created":"2026-01-26T13:37:49.633378+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.632","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPNS1 was added\ngene: SPNS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SPNS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPNS1 were set to 40608416; 38451736\nPhenotypes for gene: SPNS1 were set to Lysosomal disorder, SPNS1-related, MONDO:0002561","entity_name":"SPNS1","entity_type":"gene"},{"created":"2026-01-26T13:36:09.613992+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPNS1 were set to 40608416","entity_name":"SPNS1","entity_type":"gene"},{"created":"2026-01-26T13:35:34.300048+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPNS1 as Green List (high evidence)","entity_name":"SPNS1","entity_type":"gene"},{"created":"2026-01-26T13:35:34.290066+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spns1 has been classified as Green List (High Evidence).","entity_name":"SPNS1","entity_type":"gene"},{"created":"2026-01-26T13:34:57.828239+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPNS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38451736; Phenotypes: Lysosomal disorder, SPNS1-related, MONDO:0002561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPNS1","entity_type":"gene"},{"created":"2026-01-26T13:34:00.523183+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4187","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPNS1 were set to 40608416","entity_name":"SPNS1","entity_type":"gene"},{"created":"2026-01-26T13:33:38.932375+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4186","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPNS1 as Green List (high evidence)","entity_name":"SPNS1","entity_type":"gene"},{"created":"2026-01-26T13:33:38.924770+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spns1 has been classified as Green List (High Evidence).","entity_name":"SPNS1","entity_type":"gene"},{"created":"2026-01-26T13:33:19.022123+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4185","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPNS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38451736; Phenotypes: Lysosomal disorder, SPNS1-related, MONDO:0002561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPNS1","entity_type":"gene"},{"created":"2026-01-26T13:26:41.318914+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTSS1L as ready","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:26:41.307881+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtss1l has been classified as Green List (High Evidence).","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:26:36.085391+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTSS1L were set to PMID: 36067766","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:26:21.400962+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:25:38.595666+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.401","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: MTSS1L.","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:25:21.171456+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.631","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTSS1L were set to PMID: 36067766","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:24:45.234846+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.630","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: MTSS1L.","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:24:35.594421+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.630","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:23:38.569265+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.401","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTSS1L were set to PMID: 36067766; 39890443; 40698928","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:23:20.758037+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.401","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTSS1L were set to PMID: 36067766","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:22:15.930397+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.400","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:21:12.361255+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4185","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: MTSS1L.","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:20:59.683012+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4185","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTSS1L were set to PMID: 36067766","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:20:38.063808+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4184","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2026-01-26T13:09:49.962398+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4184","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35245678; Phenotypes: ; Mode of inheritance: None","entity_name":"CSMD3","entity_type":"gene"},{"created":"2026-01-26T13:09:23.340594+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.361","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35245678; Phenotypes: ; Mode of inheritance: None","entity_name":"CSMD3","entity_type":"gene"},{"created":"2026-01-26T10:42:12.196089+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4184","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: KRT8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT8","entity_type":"gene"},{"created":"2026-01-26T08:06:31.782901+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.630","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SF3B1 were changed from complex neurodevelopmental disorder MONDO:0100038 to complex neurodevelopmental disorder MONDO:0100038, SF3B1-related","entity_name":"SF3B1","entity_type":"gene"},{"created":"2026-01-26T08:05:58.025516+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.629","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SF3B1 were set to ","entity_name":"SF3B1","entity_type":"gene"},{"created":"2026-01-26T08:05:22.414620+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.628","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SF3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41577671; Phenotypes: complex neurodevelopmental disorder MONDO:0100038, SF3B1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SF3B1","entity_type":"gene"},{"created":"2026-01-26T08:03:23.199937+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4183","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SF3B1 were changed from complex neurodevelopmental disorder MONDO:0100038 to complex neurodevelopmental disorder MONDO:0100038, SF3B1-related","entity_name":"SF3B1","entity_type":"gene"},{"created":"2026-01-26T08:03:00.214088+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4182","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SF3B1 were set to ","entity_name":"SF3B1","entity_type":"gene"},{"created":"2026-01-26T08:02:36.538966+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4181","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SF3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41577671; Phenotypes: complex neurodevelopmental disorder MONDO:0100038, SF3B1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SF3B1","entity_type":"gene"},{"created":"2026-01-25T13:50:21.106443+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZP3 as Green List (high evidence)","entity_name":"ZP3","entity_type":"gene"},{"created":"2026-01-25T13:50:21.099181+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zp3 has been classified as Green List (High Evidence).","entity_name":"ZP3","entity_type":"gene"},{"created":"2026-01-25T13:50:13.264625+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Presentations with POF reported, PMID 39485610.; to: Presentations with POF reported, PMID 39485610, upgrade to Green.","entity_name":"ZP3","entity_type":"gene"},{"created":"2026-01-25T13:49:50.564263+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZP3: Added comment: Presentations with POF reported, PMID 39485610.; Changed rating: GREEN; Changed publications: 28886344, 30810869, 39485610","entity_name":"ZP3","entity_type":"gene"},{"created":"2026-01-25T13:46:54.016036+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4181","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic. Unclear if this is a separate association at present.; to: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic. Unclear if this is a separate association at present. Also note relatively high gnomAD counts for the reported variants, hence AMBER for association with hypothyroidism.","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:46:09.095861+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4181","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TUBB1: Changed rating: AMBER","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:45:55.725635+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBB1 as Amber List (moderate evidence)","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:45:55.718880+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb1 has been classified as Amber List (Moderate Evidence).","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:45:48.250104+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for this association.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for mono-allelic. RED for bi-allelic.","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:45:26.738110+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts. AMBER for this association.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for this association.","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:45:06.823969+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:44:24.539868+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TUBB1: Changed rating: AMBER","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:44:13.692085+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts. AMBER for this association.","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:41:17.785400+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4181","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBB1 were changed from Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112; MONDO:0013141 to Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112; MONDO:0013141; Hypothyroidism","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:40:53.781227+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4180","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBB1 were set to 32757236; 31565851; 29333906; 18849486","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:40:33.265232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4179","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic.; to: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic. Unclear if this is a separate association at present.","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:40:14.254145+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4179","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:39:52.188031+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4179","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TUBB1: Added comment: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic.; Changed publications: 30446499, 31642429, 40071799; Changed phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112, MONDO:0013141, Hypothyroidism","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:38:12.915739+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBB1 were set to 30446499; 31642429","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:38:04.292772+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:37:49.186331+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TUBB1: Added comment: Further 4 individuals reported with heterozygous missense variants and hypothyroidism.; Changed rating: GREEN; Changed publications: 40071799; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB1","entity_type":"gene"},{"created":"2026-01-25T13:26:24.364034+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 33966472 reviews 3 previously published cases of heterozygous variants and reports another -- attenuated phenotype.; to: PMID 33966472 reviews 3 previously published cases of heterozygous variants and reports another -- attenuated phenotype. All had variants at same position, c.65-2A. LIMITED evidence for this MOI.","entity_name":"STAR","entity_type":"gene"},{"created":"2026-01-25T13:07:36.249873+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4179","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association with AD RP: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.\r\n\r\nAssociation with AR RP: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.; to: Association with AD RP: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.\r\n\r\nAssociation with AR RP: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.\r\n\r\nAssociations with RP are AMBER due to the recurrent nature of the variants.","entity_name":"SAG","entity_type":"gene"},{"created":"2026-01-25T13:06:44.080691+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4179","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SAG were changed from Oguchi disease-1, MIM# 258100; Retinitis pigmentosa 47, MIM# 613758 to Oguchi disease-1, MIM# 258100; Retinitis pigmentosa 47, autosomal recessive MIM# 613758; Retinitis pigmentosa 96, autosomal dominant, MIM# 620228","entity_name":"SAG","entity_type":"gene"},{"created":"2026-01-25T13:06:21.451602+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4178","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SAG were set to 7670478; 9565049; 15234147; 28549094; 33047631","entity_name":"SAG","entity_type":"gene"},{"created":"2026-01-25T13:05:56.438049+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4177","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SAG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SAG","entity_type":"gene"},{"created":"2026-01-25T13:05:11.668331+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4176","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SAG: Added comment: Association with AD RP: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.\r\n\r\nAssociation with AR RP: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.; Changed publications: 7670478, 9565049, 15234147, 28549094, 33047631, 9565049, 31257036; Changed phenotypes: Oguchi disease-1, MIM# 258100, Retinitis pigmentosa 47, autosomal recessive MIM# 613758, Retinitis pigmentosa 96, autosomal dominant, MIM# 620228; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SAG","entity_type":"gene"},{"created":"2026-01-25T13:03:10.708830+11:00","panel_name":"Retinitis pigmentosa","panel_id":277,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SAG were changed from Retinitis pigmentosa 47, MIM# 613758 to Retinitis pigmentosa 47, autosomal recessive MIM# 613758; Retinitis pigmentosa 96, autosomal dominant, MIM# 620228","entity_name":"SAG","entity_type":"gene"},{"created":"2026-01-25T13:02:59.967523+11:00","panel_name":"Retinitis pigmentosa","panel_id":277,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SAG were set to 28549094; 33047631","entity_name":"SAG","entity_type":"gene"},{"created":"2026-01-25T13:02:45.220421+11:00","panel_name":"Retinitis pigmentosa","panel_id":277,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SAG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SAG","entity_type":"gene"},{"created":"2026-01-25T13:01:52.260017+11:00","panel_name":"Retinitis pigmentosa","panel_id":277,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.; to: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.","entity_name":"SAG","entity_type":"gene"},{"created":"2026-01-25T13:01:39.202134+11:00","panel_name":"Retinitis pigmentosa","panel_id":277,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SAG: Added comment: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.; Changed publications: 28549094, 33047631, 9565049, 31257036]; Changed phenotypes: Retinitis pigmentosa 47, autosomal recessive MIM# 613758, Retinitis pigmentosa 96, autosomal dominant, MIM# 620228; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SAG","entity_type":"gene"},{"created":"2026-01-25T12:55:55.711385+11:00","panel_name":"Retinitis pigmentosa","panel_id":277,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SAG: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SAG","entity_type":"gene"},{"created":"2026-01-25T12:53:58.053610+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4176","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Five unrelated adults (four males, one female; median diagnosis age 26 y) reported with peripheral pulmonary artery stenosis (PPAS) presenting with pulmonary hypertension, a characteristic string‑of‑beads pattern on angiography and multiple extracranial vascular lesions. All five were homozygous for the missense RNF213 p.Arg4810Lys (c.14429G>A) variant; three also had Moyamoya disease (MMD).; to: Five unrelated adults (four males, one female; median diagnosis age 26 y) reported with peripheral pulmonary artery stenosis (PPAS) presenting with pulmonary hypertension, a characteristic string‑of‑beads pattern on angiography and multiple extracranial vascular lesions. All five were homozygous for the missense RNF213 p.Arg4810Lys (c.14429G>A) variant; three also had Moyamoya disease (MMD).\r\n\r\nRED for this MOI/association.","entity_name":"RNF213","entity_type":"gene"},{"created":"2026-01-25T12:53:20.724911+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4176","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RNF213: Rating: RED; Mode of pathogenicity: None; Publications: 28962888; Phenotypes: Moyamoya disease, MONDO:0016820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNF213","entity_type":"gene"},{"created":"2026-01-25T12:52:40.963818+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF213 as ready","entity_name":"RNF213","entity_type":"gene"},{"created":"2026-01-25T12:52:40.953337+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf213 has been classified as Red List (Low Evidence).","entity_name":"RNF213","entity_type":"gene"},{"created":"2026-01-25T12:52:38.501188+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF213 were changed from  to Moyamoya disease, MONDO:0016820","entity_name":"RNF213","entity_type":"gene"},{"created":"2026-01-25T12:52:29.384880+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RNF213: Changed phenotypes: Moyamoya disease, MONDO:0016820","entity_name":"RNF213","entity_type":"gene"},{"created":"2026-01-25T12:52:08.784821+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNF213 was added\ngene: RNF213 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: RNF213 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF213 were set to 28962888\nReview for gene: RNF213 was set to RED\nAdded comment: Five unrelated adults (four males, one female; median diagnosis age 26 y) reported with peripheral pulmonary artery stenosis (PPAS) presenting with pulmonary hypertension, a characteristic string‑of‑beads pattern on angiography and multiple extracranial vascular lesions. All five were homozygous for the missense RNF213 p.Arg4810Lys (c.14429G>A) variant; three also had Moyamoya disease (MMD). \nSources: Literature","entity_name":"RNF213","entity_type":"gene"},{"created":"2026-01-25T12:39:03.772571+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSEN1 as ready","entity_name":"PSEN1","entity_type":"gene"},{"created":"2026-01-25T12:39:03.762076+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psen1 has been classified as Green List (High Evidence).","entity_name":"PSEN1","entity_type":"gene"},{"created":"2026-01-25T12:39:00.774610+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSEN1 were changed from  to Alzheimer disease, type 3 (MONDO:0011913; MIM#607822)","entity_name":"PSEN1","entity_type":"gene"},{"created":"2026-01-25T12:38:34.303600+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PSEN1 were set to 20301340; 7596406; 16033913","entity_name":"PSEN1","entity_type":"gene"}]}