{"count":220643,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=115","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=113","results":[{"created":"2025-11-26T13:34:31.071380+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IKBKG were changed from  to IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100162; incontinentia pigmenti MONDO:0010631","entity_name":"IKBKG","entity_type":"gene"},{"created":"2025-11-26T13:33:53.352359+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IKBKG were set to ","entity_name":"IKBKG","entity_type":"gene"},{"created":"2025-11-26T13:33:24.828251+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"IKBKG","entity_type":"gene"},{"created":"2025-11-26T13:32:56.773377+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: IKBKG.","entity_name":"IKBKG","entity_type":"gene"},{"created":"2025-11-26T13:32:24.137494+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FERMT3 as ready","entity_name":"FERMT3","entity_type":"gene"},{"created":"2025-11-26T13:32:24.129750+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fermt3 has been classified as Green List (High Evidence).","entity_name":"FERMT3","entity_type":"gene"},{"created":"2025-11-26T13:32:20.411481+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FERMT3 were changed from  to leukocyte adhesion deficiency 3 MONDO:0013016","entity_name":"FERMT3","entity_type":"gene"},{"created":"2025-11-26T13:31:40.832741+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FERMT3 were set to ","entity_name":"FERMT3","entity_type":"gene"},{"created":"2025-11-26T13:31:13.042223+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FERMT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FERMT3","entity_type":"gene"},{"created":"2025-11-26T13:30:40.153977+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTSK as ready","entity_name":"CTSK","entity_type":"gene"},{"created":"2025-11-26T13:30:40.143430+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctsk has been classified as Green List (High Evidence).","entity_name":"CTSK","entity_type":"gene"},{"created":"2025-11-26T13:30:38.207025+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTSK were changed from  to pycnodysostosis MONDO:0009940","entity_name":"CTSK","entity_type":"gene"},{"created":"2025-11-26T13:30:12.006395+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTSK were set to ","entity_name":"CTSK","entity_type":"gene"},{"created":"2025-11-26T13:29:48.991547+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CTSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTSK","entity_type":"gene"},{"created":"2025-11-26T13:29:11.612354+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANKH as ready","entity_name":"ANKH","entity_type":"gene"},{"created":"2025-11-26T13:29:11.599649+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankh has been classified as Green List (High Evidence).","entity_name":"ANKH","entity_type":"gene"},{"created":"2025-11-26T13:29:09.209442+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKH were changed from  to craniometaphyseal dysplasia MONDO:0015465","entity_name":"ANKH","entity_type":"gene"},{"created":"2025-11-26T13:28:43.357175+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANKH were set to ","entity_name":"ANKH","entity_type":"gene"},{"created":"2025-11-26T13:28:15.950277+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANKH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKH","entity_type":"gene"},{"created":"2025-11-26T13:25:52.717152+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.359","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMER1 as ready","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:25:52.709306+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.359","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amer1 has been classified as Green List (High Evidence).","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:25:48.885298+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.359","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMER1 were changed from Osteopathia striata with cranial sclerosis\t300373; Osteopathia striata with cranial sclerosis 300373 to Osteopathia striata with cranial sclerosis, MIM# 300373","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:25:18.258871+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.358","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMER1 were set to ","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:24:41.120308+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMER1 as ready","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:24:41.111545+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amer1 has been classified as Green List (High Evidence).","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:24:35.472141+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMER1 were changed from  to Osteopathia striata with cranial sclerosis, MIM# 300373","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:23:54.333637+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMER1 were set to ","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:23:33.307063+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AMER1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:22:58.316458+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMER1 as ready","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:22:58.305835+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amer1 has been classified as Green List (High Evidence).","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:22:55.367924+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMER1 were changed from  to Osteopathia striata with cranial sclerosis, MIM# 300373; MONDO:0010310","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:22:24.221409+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMER1 were set to ","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:21:57.561702+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AMER1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:21:14.754373+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMER1 as ready","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:21:14.743149+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amer1 has been classified as Green List (High Evidence).","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:20:46.121355+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMER1 were changed from OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; Cleft palate to Osteopathia striata with cranial sclerosis, MIM# 300373","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:20:38.318109+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene AMER1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-26T13:20:33.651625+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMER1 were set to ","entity_name":"AMER1","entity_type":"gene"},{"created":"2025-11-26T13:19:59.240013+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene AMER1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-26T13:19:21.946566+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene AMER1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-26T13:17:28.713943+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANKRD11 as ready","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2025-11-26T13:17:28.705826+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd11 has been classified as Green List (High Evidence).","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2025-11-26T13:17:15.315441+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKRD11 were changed from Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome; Orofacial Clefting with skeletal features; KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism) to KBG syndrome, MIM# 148050","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2025-11-26T13:17:06.527126+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANKRD11 were set to 25838844; 2705097; 21782149; 27900361","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2025-11-26T13:16:52.508614+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 35861666; Phenotypes: KBG syndrome, MIM# 148050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2025-11-26T13:14:21.856727+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTG1 as ready","entity_name":"ACTG1","entity_type":"gene"},{"created":"2025-11-26T13:14:21.849060+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actg1 has been classified as Green List (High Evidence).","entity_name":"ACTG1","entity_type":"gene"},{"created":"2025-11-26T13:14:19.880223+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTG1 were changed from BARAITSER-WINTER SYNDROME 2; BRWS2 to Baraitser-Winter syndrome 2, MIM# 614583","entity_name":"ACTG1","entity_type":"gene"},{"created":"2025-11-26T13:14:05.167021+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2, MIM# 614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTG1","entity_type":"gene"},{"created":"2025-11-26T13:09:11.496301+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTB as ready","entity_name":"ACTB","entity_type":"gene"},{"created":"2025-11-26T13:09:11.488438+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actb has been classified as Green List (High Evidence).","entity_name":"ACTB","entity_type":"gene"},{"created":"2025-11-26T13:09:08.170611+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTB were changed from BRWS1; BARAITSER-WINTER SYNDROME 1 to Baraitser-Winter syndrome 1, MIM# 243310","entity_name":"ACTB","entity_type":"gene"},{"created":"2025-11-26T13:08:55.319967+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 1, MIM# 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTB","entity_type":"gene"},{"created":"2025-11-26T13:06:56.955570+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGA as ready","entity_name":"AGA","entity_type":"gene"},{"created":"2025-11-26T13:06:56.947713+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aga has been classified as Green List (High Evidence).","entity_name":"AGA","entity_type":"gene"},{"created":"2025-11-26T13:06:53.838154+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AGA were changed from Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short) to Aspartylglucosaminuria, MIM# 208400; MONDO:0008830","entity_name":"AGA","entity_type":"gene"},{"created":"2025-11-26T13:06:27.838143+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.356","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AGA were set to ","entity_name":"AGA","entity_type":"gene"},{"created":"2025-11-26T13:05:57.258391+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.355","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"AGA","entity_type":"gene"},{"created":"2025-11-26T13:05:33.966240+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.355","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTSL2 as ready","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2025-11-26T13:05:33.948188+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.355","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamtsl2 has been classified as Green List (High Evidence).","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2025-11-26T13:05:30.399362+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.355","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 MIM#231050 to Geleophysic dysplasia 1 MIM#231050","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2025-11-26T13:05:06.478411+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.354","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 231050 to Geleophysic dysplasia 1 MIM#231050","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2025-11-26T13:04:39.142928+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.353","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADAMTSL2 were set to ","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2025-11-26T13:03:41.784976+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.352","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS17 as ready","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2025-11-26T13:03:41.760910+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.352","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts17 has been classified as Green List (High Evidence).","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2025-11-26T13:03:39.201025+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.352","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTS17 were changed from Weill-Marchesani syndrome type 4 to Weill-Marchesani syndrome type 4 MIM# 613195","entity_name":"ADAMTS17","entity_type":"gene"},{"created":"2025-11-26T13:02:58.134214+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.351","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS10 as ready","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2025-11-26T13:02:58.105593+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.351","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts10 has been classified as Green List (High Evidence).","entity_name":"ADAMTS10","entity_type":"gene"},{"created":"2025-11-26T13:01:50.276926+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.351","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: ABCC9: Well established gene-disease association.","entity_name":"ABCC9","entity_type":"gene"},{"created":"2025-11-26T13:01:39.817937+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.351","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"ABCC9","entity_type":"gene"},{"created":"2025-11-26T13:01:30.098148+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.351","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCC9 as ready","entity_name":"ABCC9","entity_type":"gene"},{"created":"2025-11-26T13:01:30.051923+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.351","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc9 has been classified as Green List (High Evidence).","entity_name":"ABCC9","entity_type":"gene"},{"created":"2025-11-26T13:01:17.182060+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.351","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCC9 were set to ","entity_name":"ABCC9","entity_type":"gene"},{"created":"2025-11-26T13:00:35.642904+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.350","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACP5 as ready","entity_name":"ACP5","entity_type":"gene"},{"created":"2025-11-26T13:00:35.624538+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.350","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acp5 has been classified as Green List (High Evidence).","entity_name":"ACP5","entity_type":"gene"},{"created":"2025-11-26T13:00:02.339101+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.350","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACP5 were changed from Spondyloenchondrodysplasia with immune dysregulation 607944 to Spondyloenchondrodysplasia with immune dysregulation MIM#607944","entity_name":"ACP5","entity_type":"gene"},{"created":"2025-11-26T12:59:41.269774+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.349","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACP5 were set to ","entity_name":"ACP5","entity_type":"gene"},{"created":"2025-11-26T12:58:58.100747+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACAN as ready","entity_name":"ACAN","entity_type":"gene"},{"created":"2025-11-26T12:58:58.089570+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acan has been classified as Green List (High Evidence).","entity_name":"ACAN","entity_type":"gene"},{"created":"2025-11-26T12:58:52.346601+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACAN were set to 24762113","entity_name":"ACAN","entity_type":"gene"},{"created":"2025-11-26T12:53:22.557571+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3660","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy; Adult-onset leukoencephalopathy to Lissencephaly 5, MIM# 615191; Leukoencephalopathy, adult-onset, MIM# 621424","entity_name":"LAMB1","entity_type":"gene"},{"created":"2025-11-26T12:53:02.859660+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3659","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LAMB1: Changed phenotypes: Lissencephaly 5, MIM# 615191, Leukoencephalopathy, adult-onset, MIM# 621424","entity_name":"LAMB1","entity_type":"gene"},{"created":"2025-11-26T12:26:04.987033+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.144","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-46743-Gain was added\nRegion: ISCA-46743-Gain was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-46743-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for Region: ISCA-46743-Gain were set to Xq25 duplication syndrome, MIM#300979; Xq25 deletion syndrome\nReview for Region: ISCA-46743-Gain was set to GREEN\nAdded comment: Established recurrent CNV associated with short stature, delayed development ID, carrier females may be affected. \nSources: ClinGen","entity_name":"ISCA-46743-Gain","entity_type":"region"},{"created":"2025-11-26T12:04:58.390225+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.143","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-46302-Gain was added\nRegion: ISCA-46302-Gain was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for Region: ISCA-46302-Gain were set to 46,XY sex reversal 2, MONDO:0010226\nReview for Region: ISCA-46302-Gain was set to GREEN\nAdded comment: Established triplosensitive region with XY individuals affected and XX carriers unaffected. Presents with male to female sex reversal. \nSources: ClinGen","entity_name":"ISCA-46302-Gain","entity_type":"region"},{"created":"2025-11-26T11:51:44.175006+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.142","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-46300-Loss was added\nRegion: ISCA-46300-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256\nReview for Region: ISCA-46300-Loss was set to GREEN\nAdded comment: Established recurrent CNV, distal breakpoints, defined in clingen as HI3 \nSources: ClinGen","entity_name":"ISCA-46300-Loss","entity_type":"region"},{"created":"2025-11-26T11:47:07.734818+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.141","user_name":"Sarah Milton","item_type":"panel","text":"removed region:ISCA-46296 from the panel","entity_name":null,"entity_type":null},{"created":"2025-11-26T11:40:17.107283+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.140","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-46296 was added\nRegion: ISCA-46296 was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-46296 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-46296 were set to Chromosome 15q24 deletion syndrome, MONDO:0013256\nReview for Region: ISCA-46296 was set to GREEN\nAdded comment: Well described recurrent CNV \nSources: ClinGen","entity_name":"ISCA-46296","entity_type":"region"},{"created":"2025-11-26T11:33:06.385308+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.139","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37498-Loss was added\nRegion: ISCA-37498-Loss was added to Common deletion and duplication syndromes. 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\nReview for Region: ISCA-37498-Loss was set to GREEN\nAdded comment: Well described recurrent CNV by Clingen with associated ID and dysmorphism. Overlaps 2 HI3 genes - KMT5B and SHANK2 \nSources: ClinGen","entity_name":"ISCA-37498-Loss","entity_type":"region"},{"created":"2025-11-26T11:25:32.758872+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.138","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37448-Loss was added\nRegion: ISCA-37448-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-37448-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37448-Loss were set to Chromosome 15q11.2 deletion syndrome, MIM#615656\nPenetrance for Region: ISCA-37448-Loss were set to Incomplete\nReview for Region: ISCA-37448-Loss was set to GREEN\nAdded comment: Established recurrent CNV with neuropsychiatric and neurodevelopmental phenotypes. Known to have significantly reduced penetrance. \nSources: ClinGen","entity_name":"ISCA-37448-Loss","entity_type":"region"},{"created":"2025-11-26T10:11:16.484890+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.12","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: TUBA1A were changed from Congenital fibrosis of the extraocular muscles, AD to Congenital fibrosis of the extraocular muscles, MONDO:0007614, TUBA1A-related","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2025-11-26T10:11:03.045735+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.11","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: TUBA1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital fibrosis of the extraocular muscles, MONDO:0007614, TUBA1A-related; Mode of inheritance: None","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2025-11-26T10:09:18.972539+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.11","user_name":"Lucy Spencer","item_type":"entity","text":"Publications for gene: TUBA1A were set to 30677308","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2025-11-26T10:03:55.158733+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.484","user_name":"Sangavi Sivagnanasundram","item_type":"panel","text":"Copied gene FGD5 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-26T10:03:52.228241+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.484","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: FGD5 was added\ngene: FGD5 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGD5 were set to 32037394; 30232381\nPhenotypes for gene: FGD5 were set to tetralogy of fallot MONDO:0008542","entity_name":"FGD5","entity_type":"gene"},{"created":"2025-11-26T10:02:59.188146+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3659","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: FGD5 was added\ngene: FGD5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGD5 were set to 32037394; 30232381\nPhenotypes for gene: FGD5 were set to tetralogy of fallot MONDO:0008542\nReview for gene: FGD5 was set to RED\nAdded comment: Appears to be two separate families reported with different nonsense variants in FGD5 associated with TOF. There is some author and recruitment overlap however there is no compelling evidence to state the two probands are related. \r\n\r\n32037394 - one family reported with a nonsense variant in an individual with pulmonary stenosis and dysplastic valve, ASD - Glu322* (variant is absent in gnomAD v4.1)\r\n30232381 (missed this publication) -  individual reported with TOF, ASD, AF, hypertension, aortic dilation Arg1225* - present in gnomADv4.1 singleton in EAS population.\r\n\r\nThere is no clear evidence that LoF is the mechanism of disease. No pathogenic variants have been reported in ClinVar at this stage thus the gene should remain as Red till further evidence is provided. \nSources: Literature","entity_name":"FGD5","entity_type":"gene"},{"created":"2025-11-26T09:55:46.000954+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.285","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene HECTD4 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2025-11-26T09:55:45.635581+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.285","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HECTD4 was added\ngene: HECTD4 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HECTD4 were set to PMID: 36401616\nPhenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250","entity_name":"HECTD4","entity_type":"gene"},{"created":"2025-11-26T07:08:23.548306+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLF13 as ready","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-26T07:08:23.541134+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klf13 has been classified as Amber List (Moderate Evidence).","entity_name":"KLF13","entity_type":"gene"},{"created":"2025-11-26T07:07:21.918121+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.441","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUL1 as ready","entity_name":"CUL1","entity_type":"gene"}]}