{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=58","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=56","results":[{"created":"2026-01-15T16:21:21.846019+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNP as ready","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:21:21.839140+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnp has been classified as Green List (High Evidence).","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:19:38.302673+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene CNP from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-15T16:19:38.040870+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CNP was added\ngene: CNP was added to Regression. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CNP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNP were set to 32128616; 12590258; 40396300\nPhenotypes for gene: CNP were set to Leukodystrophy, hypomyelinating, 20, MIM# 619071","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:18:58.221684+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.602","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene CNP from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-15T16:18:57.816810+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.602","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CNP was added\ngene: CNP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CNP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNP were set to 32128616; 12590258; 40396300\nPhenotypes for gene: CNP were set to Leukodystrophy, hypomyelinating, 20, MIM# 619071","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:18:42.446767+11:00","panel_name":"Leukodystrophy","panel_id":298,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene CNP from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-15T16:17:04.274231+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4077","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CNP: Changed phenotypes: Leukodystrophy, hypomyelinating, 20, MIM# 619071","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:16:53.230050+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4077","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CNP were set to 32128616; 12590258","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:16:33.810791+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4076","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CNP as Green List (high evidence)","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:16:33.802913+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4076","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnp has been classified as Green List (High Evidence).","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:16:19.795820+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4075","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CNP: Added comment: PMID 40396300 adds two affected siblings from an independent consanguineous family with a homozygous nonsense CNP variant (p.Glu99*) resulting in hypomyelinating leukodystrophy type 20.; Changed rating: GREEN; Changed publications: 40396300, 32128616; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:13:57.540289+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPAG17 as ready","entity_name":"SPAG17","entity_type":"gene"},{"created":"2026-01-15T16:13:57.532010+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spag17 has been classified as Green List (High Evidence).","entity_name":"SPAG17","entity_type":"gene"},{"created":"2026-01-15T16:13:45.806846+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene SPAG17 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-15T16:13:45.724833+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPAG17 was added\ngene: SPAG17 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SPAG17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPAG17 were set to 28548327; 40330001; 39686771\nPhenotypes for gene: SPAG17 were set to Spermatogenic failure 55, MIM#619380","entity_name":"SPAG17","entity_type":"gene"},{"created":"2026-01-15T16:13:17.370337+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4075","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPAG17 were set to 28548327","entity_name":"SPAG17","entity_type":"gene"},{"created":"2026-01-15T16:12:55.239682+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4074","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPAG17 as Green List (high evidence)","entity_name":"SPAG17","entity_type":"gene"},{"created":"2026-01-15T16:12:55.228554+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4074","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spag17 has been classified as Green List (High Evidence).","entity_name":"SPAG17","entity_type":"gene"},{"created":"2026-01-15T16:12:41.280967+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4073","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SPAG17: Added comment: Recent studies (PMIDs 28548327, 39686771, 40330001 and supporting mouse data in PMID 29690537) expand SPAG17‑associated male infertility to four unrelated families (seven affected individuals) with biallelic loss‑of‑function variants causing severe asthenozoospermia, multiple morphological abnormalities of the flagella (MMAF) or oligoasthenoteratozoospermia. Detailed semen analyses, sperm ultrastructure, immunofluorescence, Western blot, qPCR and TEM demonstrate loss of SPAG17 protein and axonemal defects, while a Spag17 knockout mouse recapitulates the infertility phenotype.; Changed rating: GREEN; Changed publications: 40330001, 39686771, 28548327","entity_name":"SPAG17","entity_type":"gene"},{"created":"2026-01-15T16:08:23.807214+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C1orf146 as ready","entity_name":"C1orf146","entity_type":"gene"},{"created":"2026-01-15T16:08:23.800222+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c1orf146 has been classified as Red List (Low Evidence).","entity_name":"C1orf146","entity_type":"gene"},{"created":"2026-01-15T16:07:49.839954+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene C1orf146 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-15T16:07:49.763132+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C1orf146 was added\ngene: C1orf146 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature\nMode of inheritance for gene: C1orf146 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1orf146 were set to 40374915; 37270785\nPhenotypes for gene: C1orf146 were set to Infertility disorder, MONDO:0005047, C1orf146-related","entity_name":"C1orf146","entity_type":"gene"},{"created":"2026-01-15T16:07:37.635314+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4073","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C1orf146 as ready","entity_name":"C1orf146","entity_type":"gene"},{"created":"2026-01-15T16:07:37.627863+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4073","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c1orf146 has been classified as Red List (Low Evidence).","entity_name":"C1orf146","entity_type":"gene"},{"created":"2026-01-15T16:07:28.748326+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4073","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C1orf146 was added\ngene: C1orf146 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C1orf146 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1orf146 were set to 40374915; 37270785\nPhenotypes for gene: C1orf146 were set to Infertility disorder, MONDO:0005047, C1orf146-related\nReview for gene: C1orf146 was set to RED\nAdded comment: PMID 37270785 reports a 36‑year‑old woman with a homozygous splice‑site loss‑of‑function SPO16 variant (c.160+8A>G) presenting with premature ovarian insufficiency; minigene splicing assays demonstrated exon 3 skipping. PMID 40374915 describes a male from a separate unrelated family carrying a homozygous frameshift SPO16 variant (c.266del) who has non‑obstructive azoospermia with meiotic arrest; no functional studies were performed. \nSources: Literature","entity_name":"C1orf146","entity_type":"gene"},{"created":"2026-01-15T16:03:44.940225+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4072","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: SKIV2L: New HGNC approved name is SKIC2","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2026-01-15T16:03:28.248165+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4072","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: SKIV2L.","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2026-01-15T15:58:33.259645+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4072","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HBD as ready","entity_name":"HBD","entity_type":"gene"},{"created":"2026-01-15T15:58:33.251160+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4072","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hbd has been classified as Green List (High Evidence).","entity_name":"HBD","entity_type":"gene"},{"created":"2026-01-15T15:53:36.879495+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4072","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene HBD from panel Red cell disorders","entity_name":null,"entity_type":null},{"created":"2026-01-15T15:53:36.299102+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4072","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HBD was added\ngene: HBD was added to Mendeliome. Sources: Expert Review Green,Yorkshire and North East GLH,NHS GMS,Wessex and West Midlands GLH,North West GLH,London South GLH\nMode of inheritance for gene: HBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HBD were set to 27630894; 25490067\nPhenotypes for gene: HBD were set to Thalassaemia, delta-; Thalassaemia due to Hb Lepore","entity_name":"HBD","entity_type":"gene"},{"created":"2026-01-15T15:40:59.101315+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PFAS as ready","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:40:59.091465+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pfas has been classified as Amber List (Moderate Evidence).","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:40:48.198054+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.601","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PFAS as ready","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:40:48.189919+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.601","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pfas has been classified as Amber List (Moderate Evidence).","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:40:35.842930+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.601","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene PFAS from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-15T15:40:35.417118+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.601","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PFAS was added\ngene: PFAS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: PFAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PFAS were set to 40421664\nPhenotypes for gene: PFAS were set to Inborn error of metabolism, MONDO:0019052, PFAS-related","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:40:22.324899+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PFAS as ready","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:40:22.311823+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pfas has been classified as Amber List (Moderate Evidence).","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:39:54.057910+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene PFAS from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-15T15:39:53.985629+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PFAS was added\ngene: PFAS was added to Growth failure. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: PFAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PFAS were set to 40421664\nPhenotypes for gene: PFAS were set to Inborn error of metabolism, MONDO:0019052, PFAS-related","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:39:42.840592+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.60","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene PFAS from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-15T15:39:42.679358+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.60","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PFAS was added\ngene: PFAS was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: PFAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PFAS were set to 40421664\nPhenotypes for gene: PFAS were set to Inborn error of metabolism, MONDO:0019052, PFAS-related","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:39:02.691160+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4071","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PFAS as ready","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:39:02.683550+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4071","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pfas has been classified as Amber List (Moderate Evidence).","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:38:54.477047+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4071","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PFAS as Amber List (moderate evidence)","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:38:54.470121+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4071","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pfas has been classified as Amber List (Moderate Evidence).","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:38:39.367500+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4070","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PFAS was added\ngene: PFAS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PFAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PFAS were set to 40421664\nPhenotypes for gene: PFAS were set to Inborn error of metabolism, MONDO:0019052, PFAS-related\nReview for gene: PFAS was set to AMBER\nAdded comment: PMID 40421664 reports 2 individuals from 2 unrelated families with biallelic missense variants presenting with prematurity, short stature, seizures, and mild neurodevelopmental impairment. Functional studies in patient fibroblasts show ~30% PFAS protein, ~16% enzyme activity, impaired purinosome formation, and rescue of purinosome formation and FGAR levels by wild‑type PFAS, supporting pathogenicity. \nSources: Literature","entity_name":"PFAS","entity_type":"gene"},{"created":"2026-01-15T15:32:57.573177+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4069","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAEL as ready","entity_name":"MAEL","entity_type":"gene"},{"created":"2026-01-15T15:32:57.566063+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4069","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mael has been classified as Amber List (Moderate Evidence).","entity_name":"MAEL","entity_type":"gene"},{"created":"2026-01-15T15:32:42.160836+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4069","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAEL as Amber List (moderate evidence)","entity_name":"MAEL","entity_type":"gene"},{"created":"2026-01-15T15:32:42.151589+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4069","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mael has been classified as Amber List (Moderate Evidence).","entity_name":"MAEL","entity_type":"gene"},{"created":"2026-01-15T15:32:08.469560+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4068","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAEL was added\ngene: MAEL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAEL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAEL were set to 40442410; 39122675\nPhenotypes for gene: MAEL were set to Spermatogenic failure, MONDO:0004983, MAEL-related\nReview for gene: MAEL was set to AMBER\nAdded comment: PMID 39122675 reports 1 individual  and PMID 40442410 reports a second individual, together 2 unrelated families with autosomal recessive loss‑of‑function MAEL variants causing non‑obstructive azoospermia with meiotic arrest (male infertility). Functional evidence includes a minigene splicing assay and IHC loss of MAEL protein, as well as protein structural modelling, evolutionary conservation analysis, and a mouse knockout model that recapitulates spermatogenic failure. \nSources: Literature","entity_name":"MAEL","entity_type":"gene"},{"created":"2026-01-15T15:30:42.808426+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LY9 as ready","entity_name":"LY9","entity_type":"gene"},{"created":"2026-01-15T15:30:42.799988+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ly9 has been classified as Green List (High Evidence).","entity_name":"LY9","entity_type":"gene"},{"created":"2026-01-15T15:28:05.360216+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene LY9 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-15T15:28:05.167334+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LY9 was added\ngene: LY9 was added to Defects of intrinsic and innate immunity. Sources: Expert Review Green,Literature\nMode of inheritance for gene: LY9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LY9 were set to 40446017\nPhenotypes for gene: LY9 were set to Inborn error of immunity, MONDO:0003778, LY9-related","entity_name":"LY9","entity_type":"gene"},{"created":"2026-01-15T15:27:12.114483+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4067","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LY9 as ready","entity_name":"LY9","entity_type":"gene"},{"created":"2026-01-15T15:27:12.105843+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4067","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ly9 has been classified as Green List (High Evidence).","entity_name":"LY9","entity_type":"gene"},{"created":"2026-01-15T15:27:02.276846+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4067","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LY9 as Green List (high evidence)","entity_name":"LY9","entity_type":"gene"},{"created":"2026-01-15T15:27:02.268722+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4067","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ly9 has been classified as Green List (High Evidence).","entity_name":"LY9","entity_type":"gene"},{"created":"2026-01-15T15:26:46.734117+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4066","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LY9 was added\ngene: LY9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LY9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LY9 were set to 40446017\nPhenotypes for gene: LY9 were set to Inborn error of immunity, MONDO:0003778, LY9-related\nReview for gene: LY9 was set to GREEN\nAdded comment: PMID 40446017 reports three individuals from three unrelated families with biallelic loss-of-function LY9 frameshift variants presenting with active tuberculosis (infant pulmonary TB, adult pulmonary TB, mediastinal tuberculous lymphadenitis). Detailed clinical phenotyping, segregation data, and rescue experiments demonstrate LY9 deficiency as the genetic cause of TB susceptibility. \nSources: Literature","entity_name":"LY9","entity_type":"gene"},{"created":"2026-01-15T15:21:43.453040+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXK2 as ready","entity_name":"FOXK2","entity_type":"gene"},{"created":"2026-01-15T15:21:43.446012+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxk2 has been classified as Red List (Low Evidence).","entity_name":"FOXK2","entity_type":"gene"},{"created":"2026-01-15T15:21:33.162010+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.116","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene FOXK2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-15T15:21:32.945665+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.116","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXK2 was added\ngene: FOXK2 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Expert Review Red,Literature\nMode of inheritance for gene: FOXK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXK2 were set to 40410591\nPhenotypes for gene: FOXK2 were set to Myopathy, MONDO:0005336, FOXK2-related","entity_name":"FOXK2","entity_type":"gene"},{"created":"2026-01-15T15:20:27.249962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4065","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXK2 as ready","entity_name":"FOXK2","entity_type":"gene"},{"created":"2026-01-15T15:20:27.240507+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4065","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxk2 has been classified as Red List (Low Evidence).","entity_name":"FOXK2","entity_type":"gene"},{"created":"2026-01-15T15:20:15.942672+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4065","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXK2 was added\ngene: FOXK2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FOXK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXK2 were set to 40410591\nPhenotypes for gene: FOXK2 were set to Myopathy, MONDO:0005336, FOXK2-related\nReview for gene: FOXK2 was set to RED\nAdded comment: PMID 40410591 reports five affected individuals from one family with isolated congenital ptosis and additional affected individuals from four families with congenital myopathy and ptosis, all carrying heterozygous missense variants in FOXK2 inherited in an autosomal dominant manner; functional assays in zebrafish, muscle‑specific mouse knockout, and FOXK2‑KO C2C12 cells demonstrate reduced protein levels, impaired myogenic differentiation and mitochondrial dysfunction that are rescued by wild‑type FOXK2. However, all the variants are present in gnomAD, including one in over 2,000 individuals, hence Red rating. \nSources: Literature","entity_name":"FOXK2","entity_type":"gene"},{"created":"2026-01-15T15:07:24.849172+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DUSP1 as ready","entity_name":"DUSP1","entity_type":"gene"},{"created":"2026-01-15T15:07:24.840382+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dusp1 has been classified as Red List (Low Evidence).","entity_name":"DUSP1","entity_type":"gene"},{"created":"2026-01-15T15:07:16.258347+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene DUSP1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-15T15:07:15.988078+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DUSP1 was added\ngene: DUSP1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review Red,Literature\nMode of inheritance for gene: DUSP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DUSP1 were set to 40359362\nPhenotypes for gene: DUSP1 were set to Hereditary palmoplantar keratoderma, MONDO:0019272, DUSP1-related","entity_name":"DUSP1","entity_type":"gene"},{"created":"2026-01-15T15:06:24.060820+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4064","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DUSP1 as ready","entity_name":"DUSP1","entity_type":"gene"},{"created":"2026-01-15T15:06:24.053917+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4064","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dusp1 has been classified as Red List (Low Evidence).","entity_name":"DUSP1","entity_type":"gene"},{"created":"2026-01-15T15:05:59.656804+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4064","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DUSP1 was added\ngene: DUSP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DUSP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DUSP1 were set to 40359362\nPhenotypes for gene: DUSP1 were set to Hereditary palmoplantar keratoderma, MONDO:0019272, DUSP1-related\nReview for gene: DUSP1 was set to RED\nAdded comment: PMID 40359362 reports four individuals from two unrelated families with heterozygous and homozygous missense variants in DUSP1 presenting with semidominant palmoplantar keratoderma, focal hyperkeratosis, and, in homozygotes, severe PPK with hearing loss. Functional assays in primary keratinocytes and 3‑D skin equivalents demonstrate reduced DUSP1 protein, increased ERK1/2 phosphorylation, and rescue by ERK1/2 inhibition. The inheritance is postulated to be semidominant (monoallelic and biallelic) with dose‑dependent severity -- one family has two heterozygous individuals (insufficient segregation) and second family has a more severely affected homozygous individual and affected parent. \nSources: Literature","entity_name":"DUSP1","entity_type":"gene"},{"created":"2026-01-15T12:07:09.466333+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.600","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-46295-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-15T12:07:09.099065+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.600","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-46295-Loss was added\nRegion: ISCA-46295-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-46295-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for Region: ISCA-46295-Loss were set to PMID: 19289393\nPhenotypes for Region: ISCA-46295-Loss were set to Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures","entity_name":"ISCA-46295-Loss","entity_type":"region"},{"created":"2026-01-15T12:06:28.450277+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.353","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-46295-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-15T12:06:28.141689+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.353","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-46295-Loss was added\nRegion: ISCA-46295-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-46295-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for Region: ISCA-46295-Loss were set to PMID: 19289393\nPhenotypes for Region: ISCA-46295-Loss were set to Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures","entity_name":"ISCA-46295-Loss","entity_type":"region"},{"created":"2026-01-15T11:59:23.335511+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.599","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-46290-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-15T11:59:22.906836+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.599","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-46290-Gain was added\nRegion: ISCA-46290-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for Region: ISCA-46290-Gain were set to 19716111; 27605428; 29707408; 16900295\nPhenotypes for Region: ISCA-46290-Gain were set to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures","entity_name":"ISCA-46290-Gain","entity_type":"region"},{"created":"2026-01-15T11:58:42.188715+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.352","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-46290-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-15T11:58:41.841237+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.352","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-46290-Gain was added\nRegion: ISCA-46290-Gain was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for Region: ISCA-46290-Gain were set to 19716111; 27605428; 29707408; 16900295\nPhenotypes for Region: ISCA-46290-Gain were set to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures","entity_name":"ISCA-46290-Gain","entity_type":"region"},{"created":"2026-01-15T11:52:27.784784+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.43","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-15T11:52:27.714002+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.43","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37500-Loss was added\nRegion: ISCA-37500-Loss was added to Red cell disorders. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37500-Loss were set to 20921022; 24352913\nPhenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome\tMIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities","entity_name":"ISCA-37500-Loss","entity_type":"region"},{"created":"2026-01-15T11:52:27.459815+11:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.21","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-15T11:52:27.266968+11:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.21","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37500-Loss was added\nRegion: ISCA-37500-Loss was added to Radial Ray Abnormalities. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37500-Loss were set to 20921022; 24352913\nPhenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome\tMIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities","entity_name":"ISCA-37500-Loss","entity_type":"region"},{"created":"2026-01-15T11:51:47.568815+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.598","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-15T11:51:47.120881+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.598","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37500-Loss was added\nRegion: ISCA-37500-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37500-Loss were set to 20921022; 24352913\nPhenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome\tMIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities","entity_name":"ISCA-37500-Loss","entity_type":"region"},{"created":"2026-01-15T11:51:06.366430+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.512","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-15T11:51:05.868532+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.512","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37500-Loss was added\nRegion: ISCA-37500-Loss was added to Fetal anomalies. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37500-Loss were set to 20921022; 24352913\nPhenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome\tMIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities","entity_name":"ISCA-37500-Loss","entity_type":"region"},{"created":"2026-01-15T11:50:59.124447+11:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.15","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-15T11:50:58.889864+11:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.15","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37500-Loss was added\nRegion: ISCA-37500-Loss was added to Diamond Blackfan anaemia. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37500-Loss were set to 20921022; 24352913\nPhenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome\tMIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities","entity_name":"ISCA-37500-Loss","entity_type":"region"},{"created":"2026-01-15T11:50:21.871683+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.136","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-15T11:50:21.592854+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.136","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37500-Loss was added\nRegion: ISCA-37500-Loss was added to Bone Marrow Failure. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37500-Loss were set to 20921022; 24352913\nPhenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome\tMIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities","entity_name":"ISCA-37500-Loss","entity_type":"region"},{"created":"2026-01-15T11:38:28.070503+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.597","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37498-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-01-15T11:38:27.446389+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.597","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37498-Loss was added\nRegion: ISCA-37498-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen\nMode of inheritance for Region: ISCA-37498-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37498-Loss were set to 11q13.2q13.4 deletion syndrome","entity_name":"ISCA-37498-Loss","entity_type":"region"}]}