{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=138","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=136","results":[{"created":"2025-10-30T20:42:49.657938+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.409","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CXorf56: Changed phenotypes: Intellectual developmental disorder, X-linked 107, MIM# 301013","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:42:31.410742+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.267","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CXorf56 as ready","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:42:31.406106+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.267","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: New HGNC approved name is STEEP1","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:42:31.379489+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.267","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cxorf56 has been classified as Green List (High Evidence).","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:42:13.711979+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.267","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CXorf56.","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:42:06.450925+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.267","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CXorf56: Changed phenotypes: Intellectual developmental disorder, X-linked 107, MIM# 301013","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:41:39.903175+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3512","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CXorf56 as ready","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:41:39.900209+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3512","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: New HGNC approved name is STEEP1","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:41:39.882396+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3512","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cxorf56 has been classified as Green List (High Evidence).","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:41:17.497194+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3512","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CXorf56 were set to 29374277","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:41:05.585944+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3511","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CXorf56 were changed from Mental retardation, X-linked 107, MIM#\t301013 to Intellectual developmental disorder, X-linked 107, MIM# \t301013","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:39:11.987981+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3510","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CXorf56.","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:35:03.005059+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PROKR2 as ready","entity_name":"PROKR2","entity_type":"gene"},{"created":"2025-10-30T20:35:02.994862+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prokr2 has been classified as Green List (High Evidence).","entity_name":"PROKR2","entity_type":"gene"},{"created":"2025-10-30T19:15:51.645650+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.60","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SKOR2 were changed from complex neurodevelopmental disorder with motor features MONDO:0100516 to Valence-Farazi cerebellar ataxia syndrome, MIM# 621386","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-10-30T19:15:33.233858+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SKOR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Valence-Farazi cerebellar ataxia syndrome, MIM# 621386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-10-30T19:15:11.519740+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.409","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SKOR2 were changed from complex neurodevelopmental disorder with motor features MONDO:0100516 to Valence-Farazi cerebellar ataxia syndrome, MIM# 621386","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-10-30T19:14:47.797412+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.408","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SKOR2: Changed phenotypes: Valence-Farazi cerebellar ataxia syndrome, MIM# 621386","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-10-30T19:14:30.645129+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3510","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SKOR2 were changed from complex neurodevelopmental disorder with motor features MONDO:0100516 to Valence-Farazi cerebellar ataxia syndrome, MIM# 621386","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-10-30T19:14:12.029545+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3509","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SKOR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Valence-Farazi cerebellar ataxia syndrome, MIM# 621386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-10-30T18:23:03.739007+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.58","user_name":"Chirag Patel","item_type":"entity","text":"Mode of inheritance for gene PROKR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PROKR2","entity_type":"gene"},{"created":"2025-10-30T18:22:56.110407+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.57","user_name":"Chirag Patel","item_type":"entity","text":"commented on gene: PROKR2: While OMIM refers to this as AD disease, hom and c.het patients are regularly reported\r\nHet. patients have been reported as asymptomatic carriers (OMIM)\r\n\r\nLoss of function - transfected HEK293 cells showed a reduction in signalling and maximal responses (PMID:18826963).\r\n\r\nDominant negative - coexpression of a mutant missense with wildtype protein resulted in reduced signalling compared to wildtype alone (PMID:29161432).","entity_name":"PROKR2","entity_type":"gene"},{"created":"2025-10-30T18:22:55.982496+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.57","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22319038, 25678757, 25759380, 18826963, 29161432; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia (244200); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PROKR2","entity_type":"gene"},{"created":"2025-10-30T18:21:33.844930+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.57","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene PROKR2 were changed from 22319038; 25678757; 25759380; 18826963; 29161432 to 22319038; 25678757; 25759380; 18826963; 29161432","entity_name":"PROKR2","entity_type":"gene"},{"created":"2025-10-30T18:18:22.527888+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: PROP1 were changed from Pituitary hormone deficiency, combined, 2 (262600) to Pituitary hormone deficiency, combined, 2 MIM# 262600\nPublications for gene PROP1 were changed from 20301521, 31090814 to 20301521, 31090814","entity_name":"PROP1","entity_type":"gene"},{"created":"2025-10-30T18:17:56.633396+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.55","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301521, 31090814; Phenotypes: Pituitary hormone deficiency, combined, 2 (MIM#262600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PROP1","entity_type":"gene"},{"created":"2025-10-30T18:14:52.897627+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.55","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: SOX2 were changed from Microphthalmia, syndromic 3 (206900) to Microphthalmia, syndromic 3, MIM# 206900\nPublications for gene SOX2 were changed from 20301477, 16932809, 24211324, 21326281 to 20301477, 16932809, 24211324, 21326281","entity_name":"SOX2","entity_type":"gene"},{"created":"2025-10-30T18:14:23.192744+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.54","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301477, 16932809, 24211324, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX2","entity_type":"gene"},{"created":"2025-10-30T18:09:09.480913+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.54","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: TBX19 were changed from Adrenocorticotropic hormone deficiency (201400) to Adrenocorticotropic hormone deficiency, 201400\nPublications for gene TBX19 were changed from 15613420, 31998673, 11290323, 15476446, 22170728 to 15613420, 31998673, 11290323, 15476446, 22170728","entity_name":"TBX19","entity_type":"gene"},{"created":"2025-10-30T18:08:56.522566+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3509","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from TBX19.\nSource Expert List was added to TBX19.\nPublications for gene TBX19 were changed from 15613420, 31998673, 11290323, 15476446, 22170728 to 15613420, 31998673, 11290323, 15476446, 22170728","entity_name":"TBX19","entity_type":"gene"},{"created":"2025-10-30T18:08:39.838745+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.53","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 15613420, 31998673, 11290323, 15476446, 22170728; Phenotypes: Adrenocorticotropic hormone deficiency, 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBX19","entity_type":"gene"},{"created":"2025-10-30T17:52:15.679804+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.53","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SOX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24346842, 15800844, 21289259; Phenotypes: Panhypopituitarism, X-linked (312000); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SOX3","entity_type":"gene"},{"created":"2025-10-30T17:38:53.721568+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.53","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SOX3 as Green List (high evidence)","entity_name":"SOX3","entity_type":"gene"},{"created":"2025-10-30T17:38:53.710772+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.53","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sox3 has been classified as Green List (High Evidence).","entity_name":"SOX3","entity_type":"gene"},{"created":"2025-10-30T17:33:35.615483+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.51","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KCNQ1 as Green List (high evidence)","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2025-10-30T17:33:35.608772+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.51","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcnq1 has been classified as Green List (High Evidence).","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2025-10-30T17:32:49.231148+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.50","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BRAF as Green List (high evidence)","entity_name":"BRAF","entity_type":"gene"},{"created":"2025-10-30T17:32:49.221036+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.50","user_name":"Chirag Patel","item_type":"entity","text":"Gene: braf has been classified as Green List (High Evidence).","entity_name":"BRAF","entity_type":"gene"},{"created":"2025-10-30T17:32:44.334389+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.49","user_name":"Chirag Patel","item_type":"entity","text":"gene: BRAF was added\ngene: BRAF was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRAF were set to 33795686\nPhenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome, MONDO:0015280\nReview for gene: BRAF was set to GREEN\nAdded comment: 5 unrelated patients with Cardio-Facio-Cutaneous (CFC) syndrome and 4 different missense variants in BRAF. They all had features of Septo-Optic Dysplasia with hypopituitarism. Functional studies using HEK293T cells showed that the BRAF genetic variants are pathogenic and result in activation of the ERK/MAPK pathway. Mice expressing one of the variants found BRAF p.Q257R showed abnormalities in terminal differentiation of hormone-producing cells causing hypopituitarism. \nSources: Genomics England PanelApp","entity_name":"BRAF","entity_type":"gene"},{"created":"2025-10-30T17:26:29.148385+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.48","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: None; Publications: 22897141; Phenotypes: Hypopituitarism, MONDO:0005152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHH","entity_type":"gene"},{"created":"2025-10-30T17:19:19.387740+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.47","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: SHH were changed from Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3  (142945) to Hypopituitarism, MONDO:0005152; Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3  (142945)","entity_name":"SHH","entity_type":"gene"},{"created":"2025-10-30T17:17:00.340963+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.46","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KCNQ1 as Amber List (moderate evidence)","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2025-10-30T17:17:00.330723+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.46","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcnq1 has been classified as Amber List (Moderate Evidence).","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2025-10-30T17:16:53.315379+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.45","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: KCNQ1 were changed from Pituitary hormone deficiency; Long QT syndrome 1 (192500) to Hypopituitarism, MONDO:0005152; Long QT syndrome 1 (192500)","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2025-10-30T17:16:27.695137+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.44","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their comment","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2025-10-30T17:16:25.464887+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.44","user_name":"Chirag Patel","item_type":"entity","text":"edited their review of gene: KCNQ1: Added comment: 2 missense variants in KCNQ1 [p.(Arg116Leu) or the p.(Pro369Leu)] identified in 3 unrelated families with multiple affected individuals with childhood onset of growth hormone deficiency (some with multiple pituitary hormone deficiencies).  Gingival fibromatosis was only present if variant was maternally inherited.  Variants segregated with disease and were absent in population databases. \r\n\r\nThe electrophysiological properties of the mutated channels were examined in whole-cell patch-clamp analyses in HEK 293 cells, in which both mutated channels (p.Arg116Leu and p.Pro369Leu) gave higher current levels than the wild-type (WT) Kv7.1 channels, and were associated with reduced pituitary hormone secretion from AtT-20 cells. KCNQ1 is expressed in mouse in postnatal pituitary somatotrope/gonadotrope cells and hypothalamic GHRH neurons. KCNQ1 is expressed in the human pituitary and hypothalamus.; Changed rating: AMBER; Changed publications: 29097701; Changed phenotypes: Hypopituitarism, MONDO:0005152; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2025-10-30T17:03:02.856066+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Tag refuted tag was added to gene: THBD.","entity_name":"THBD","entity_type":"gene"},{"created":"2025-10-30T16:59:59.331221+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNQ1 as ready","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2025-10-30T16:59:59.324976+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnq1 has been classified as Red List (Low Evidence).","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2025-10-30T16:58:41.163935+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.44","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KCNQ1 as Red List (low evidence)","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2025-10-30T16:58:41.154224+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.44","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcnq1 has been classified as Red List (Low Evidence).","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2025-10-30T16:58:32.407521+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.43","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: KCNQ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2025-10-30T16:57:48.326530+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LCP1 were changed from Bone marrow failure syndrome, MONDO:0000159, LCP1-related to Combined immunodeficiency, MONDO:0015131, LCP1-related","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:57:21.688449+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.137","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LCP1 were set to PMID: 38710235","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:56:52.350797+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.136","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LCP1 as Green List (high evidence)","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:56:52.340571+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lcp1 has been classified as Green List (High Evidence).","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:56:20.037114+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.129","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LCP1 were changed from Bone marrow failure syndrome, MONDO:0000159, LCP1-related to Combined immunodeficiency, MONDO:0015131, LCP1-related","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:56:06.085566+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.43","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BMP4 as Green List (high evidence)","entity_name":"BMP4","entity_type":"gene"},{"created":"2025-10-30T16:56:06.075573+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.43","user_name":"Chirag Patel","item_type":"entity","text":"Gene: bmp4 has been classified as Green List (High Evidence).","entity_name":"BMP4","entity_type":"gene"},{"created":"2025-10-30T16:56:00.632868+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.42","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: BMP4 were changed from Microphthalmia, syndromic 6 (607932) to Microphthalmia, syndromic 6, MIM#607932\nPublications for gene BMP4 were changed from 31120642, 24289245, 18252212, 35633847 to 31120642, 24289245, 18252212, 35633847","entity_name":"BMP4","entity_type":"gene"},{"created":"2025-10-30T16:55:54.387244+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.128","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LCP1 were set to 38710235","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:55:42.139180+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.41","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31120642, 24289245, 18252212, 35633847; Phenotypes: Microphthalmia, syndromic 6, MIM#607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BMP4","entity_type":"gene"},{"created":"2025-10-30T16:55:21.049842+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LCP1 as Green List (high evidence)","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:55:21.039923+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lcp1 has been classified as Green List (High Evidence).","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:54:41.838920+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3508","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LCP1 were changed from Bone marrow failure syndrome, MONDO:0000159, LCP1-related to Combined immunodeficiency, MONDO:0015131, LCP1-related","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:54:21.917148+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3507","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LCP1 were set to 38710235","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:53:58.797510+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3506","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LCP1 as Green List (high evidence)","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:53:58.790727+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3506","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lcp1 has been classified as Green List (High Evidence).","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:52:44.831390+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.41","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TGIF1 as Amber List (moderate evidence)","entity_name":"TGIF1","entity_type":"gene"},{"created":"2025-10-30T16:52:44.821671+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.41","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tgif1 has been classified as Amber List (Moderate Evidence).","entity_name":"TGIF1","entity_type":"gene"},{"created":"2025-10-30T16:52:40.047828+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.40","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: TGIF1 were changed from Holoprosencephaly 4 (142946) to Holoprosencephaly 4, MONDO:0007734\nPublications for gene TGIF1 were changed from 23476075, 34440302 to 23476075, 34440302","entity_name":"TGIF1","entity_type":"gene"},{"created":"2025-10-30T16:52:18.212693+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.39","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TGIF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23476075, 34440302; Phenotypes: Holoprosencephaly 4, MONDO:0007734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TGIF1","entity_type":"gene"},{"created":"2025-10-30T16:42:25.462329+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.135","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: LCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40510848, 41056520; Phenotypes: Combined immunodeficiency, MONDO:0015131, LCP1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:41:49.813396+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.126","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: LCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40510848, 41056520; Phenotypes: Combined immunodeficiency, MONDO:0015131, LCP1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:41:28.893526+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3505","user_name":"Sarah Milton","item_type":"entity","text":"changed review comment from: LCP1 encodes lymphocyte cytosolic protein and has a role in actin cross-linking in haematopoietic cells. \r\n\r\nPMID: 41056520 describes 4 families with 10 affected individuals who presented with neutropenia +/- lymphopenia and hypogammaglobulinemia. 2 individuals developed acute leukemia. \r\n\r\nVariant type included missense, splice and inframe del. Appears there is some genotype phenotype correlation in regards to severity of disease. \r\nAll variants appropriately rare in gnomAD v4. \r\n\r\nSupportive functional studies with IPSC produced with variant seen in affected individuals, these haematopoietic progenitors failed to produce CFU-G colonies with rescue upon introduction of gene corrected cells. \r\n\r\nPMID: 41056520 describes additional family with 5 affected individuals who also had neutropenia +/- lymphopenia, hypogammaglobulinemia as well as deafness.; to: LCP1 encodes lymphocyte cytosolic protein and has a role in actin cross-linking in haematopoietic cells. \r\n\r\nPMID: 41056520 describes 4 families with 10 affected individuals who presented with neutropenia +/- lymphopenia and hypogammaglobulinemia. 2 individuals developed acute leukemia. \r\n\r\nVariant type included missense, splice and inframe del. Appears there is some genotype phenotype correlation in regards to severity of disease. \r\nAll variants appropriately rare in gnomAD v4. \r\n\r\nSupportive functional studies with IPSC produced with variant seen in affected individuals, these haematopoietic progenitors failed to produce CFU-G colonies with rescue upon introduction of gene corrected cells. \r\nExact mechanism of disease remains unclear.\r\n\r\nPMID: 41056520 describes additional family with 5 affected individuals who also had neutropenia +/- lymphopenia, hypogammaglobulinemia as well as deafness.","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:40:03.930739+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3505","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: LCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40510848, PMID: 41056520; Phenotypes: Combined immunodeficiency, MONDO:0015131, LCP1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LCP1","entity_type":"gene"},{"created":"2025-10-30T16:38:14.051479+11:00","panel_name":"Hypophosphataemia or rickets","panel_id":122,"panel_version":"0.48","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from VDR.\nSource Expert List was added to VDR.\nMode of inheritance for gene VDR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VDR were changed from  to Rickets, vitamin D-resistant, type IIA, MIM# 277440\nPublications for gene VDR were changed from 2849209, 9005998, 17970811 to 2849209, 9005998, 17970811","entity_name":"VDR","entity_type":"gene"},{"created":"2025-10-30T16:37:42.357861+11:00","panel_name":"Hypophosphataemia or rickets","panel_id":122,"panel_version":"0.47","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: VDR: Rating: GREEN; Mode of pathogenicity: None; Publications: 2849209, 9005998, 17970811; Phenotypes: Rickets, vitamin D-resistant, type IIA, MIM# 277440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VDR","entity_type":"gene"},{"created":"2025-10-30T16:36:17.616041+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FSHR as ready","entity_name":"FSHR","entity_type":"gene"},{"created":"2025-10-30T16:36:17.609080+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fshr has been classified as Green List (High Evidence).","entity_name":"FSHR","entity_type":"gene"},{"created":"2025-10-30T16:35:28.377056+11:00","panel_name":"Hypophosphataemia or rickets","panel_id":122,"panel_version":"0.47","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from SLC34A1.\nSource Expert List was added to SLC34A1.\nMode of inheritance for gene SLC34A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SLC34A1 were changed from  to Nephrolithiasis/osteoporosis, hypophosphatemic, 1, MIM#612286\nPublications for gene SLC34A1 were changed from 12324554, 25050900, 9560283 to 12324554, 25050900, 9560283","entity_name":"SLC34A1","entity_type":"gene"},{"created":"2025-10-30T16:34:35.569770+11:00","panel_name":"Hypophosphataemia or rickets","panel_id":122,"panel_version":"0.46","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12324554, 25050900, 9560283; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 1, MIM#612286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC34A1","entity_type":"gene"},{"created":"2025-10-30T16:34:28.413528+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FSHB as ready","entity_name":"FSHB","entity_type":"gene"},{"created":"2025-10-30T16:34:28.401743+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fshb has been classified as Green List (High Evidence).","entity_name":"FSHB","entity_type":"gene"},{"created":"2025-10-30T16:32:25.518212+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEMA3A as ready","entity_name":"SEMA3A","entity_type":"gene"},{"created":"2025-10-30T16:32:25.511685+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema3a has been classified as Green List (High Evidence).","entity_name":"SEMA3A","entity_type":"gene"},{"created":"2025-10-30T16:32:03.796194+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PROK2 as ready","entity_name":"PROK2","entity_type":"gene"},{"created":"2025-10-30T16:32:03.786464+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prok2 has been classified as Green List (High Evidence).","entity_name":"PROK2","entity_type":"gene"},{"created":"2025-10-30T16:31:41.609555+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KISS1R as ready","entity_name":"KISS1R","entity_type":"gene"},{"created":"2025-10-30T16:31:41.598692+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiss1r has been classified as Green List (High Evidence).","entity_name":"KISS1R","entity_type":"gene"},{"created":"2025-10-30T16:31:39.041605+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KISS1R were changed from Hypogonadotropic hypogonadism 8 with or without anosmia, MIM# 614837 to Hypogonadotropic hypogonadism 8 with or without anosmia, MIM# 614837","entity_name":"KISS1R","entity_type":"gene"},{"created":"2025-10-30T16:31:05.861340+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAS as ready","entity_name":"GNAS","entity_type":"gene"},{"created":"2025-10-30T16:31:05.830082+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas has been classified as Green List (High Evidence).","entity_name":"GNAS","entity_type":"gene"},{"created":"2025-10-30T16:30:26.170602+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMNA as ready","entity_name":"LMNA","entity_type":"gene"},{"created":"2025-10-30T16:30:26.162993+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmna has been classified as Amber List (Moderate Evidence).","entity_name":"LMNA","entity_type":"gene"},{"created":"2025-10-30T16:30:23.837858+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMNA were changed from  to Laminopathy (MONDO#0021106), LMNA-related","entity_name":"LMNA","entity_type":"gene"},{"created":"2025-10-30T16:28:21.405484+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RCBTB1 as ready","entity_name":"RCBTB1","entity_type":"gene"},{"created":"2025-10-30T16:28:21.395557+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rcbtb1 has been classified as Red List (Low Evidence).","entity_name":"RCBTB1","entity_type":"gene"},{"created":"2025-10-30T16:28:03.507041+11:00","panel_name":"Hypophosphataemia or rickets","panel_id":122,"panel_version":"0.46","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from FGF23.\nSource Expert List was added to FGF23.\nMode of inheritance for gene FGF23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nMode of pathogenicity for gene FGF23 was changed from  to Other\nPhenotypes for gene: FGF23 were changed from  to Autosomal dominant hypophosphatemic rickets MONDO:0008660\nPublications for gene FGF23 were changed from 11062477, 34444516 to 11062477, 34444516","entity_name":"FGF23","entity_type":"gene"},{"created":"2025-10-30T16:27:48.879291+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RECQL4 as ready","entity_name":"RECQL4","entity_type":"gene"}]}