{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=47","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=45","results":[{"created":"2026-01-29T17:12:16.676913+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gli2 has been classified as Green List (High Evidence).","entity_name":"GLI2","entity_type":"gene"},{"created":"2026-01-29T17:12:12.956219+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CYP21A2 as ready","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2026-01-29T17:12:12.946711+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cyp21a2 has been classified as Green List (High Evidence).","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2026-01-29T17:12:09.269853+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CYP17A1 as ready","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2026-01-29T17:12:09.262842+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cyp17a1 has been classified as Green List (High Evidence).","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2026-01-29T17:12:06.031499+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CYP11B2 as ready","entity_name":"CYP11B2","entity_type":"gene"},{"created":"2026-01-29T17:12:06.020349+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cyp11b2 has been classified as Green List (High Evidence).","entity_name":"CYP11B2","entity_type":"gene"},{"created":"2026-01-29T17:12:00.275770+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CYP11B1 as ready","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2026-01-29T17:12:00.268067+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cyp11b1 has been classified as Green List (High Evidence).","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2026-01-29T17:11:56.468948+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CYP11A1 as ready","entity_name":"CYP11A1","entity_type":"gene"},{"created":"2026-01-29T17:11:56.461918+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cyp11a1 has been classified as Green List (High Evidence).","entity_name":"CYP11A1","entity_type":"gene"},{"created":"2026-01-29T17:11:52.870266+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CDKN1C as ready","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2026-01-29T17:11:52.862882+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cdkn1c has been classified as Green List (High Evidence).","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2026-01-29T17:11:48.446082+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: AIRE as ready","entity_name":"AIRE","entity_type":"gene"},{"created":"2026-01-29T17:11:48.417546+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Gene: aire has been classified as Green List (High Evidence).","entity_name":"AIRE","entity_type":"gene"},{"created":"2026-01-29T17:11:44.828158+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: ABCD1 as ready","entity_name":"ABCD1","entity_type":"gene"},{"created":"2026-01-29T17:11:44.818246+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Gene: abcd1 has been classified as Green List (High Evidence).","entity_name":"ABCD1","entity_type":"gene"},{"created":"2026-01-29T17:11:39.526873+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: AAAS as ready","entity_name":"AAAS","entity_type":"gene"},{"created":"2026-01-29T17:11:39.517224+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Gene: aaas has been classified as Green List (High Evidence).","entity_name":"AAAS","entity_type":"gene"},{"created":"2026-01-29T16:46:18.732486+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NFKB2 as ready","entity_name":"NFKB2","entity_type":"gene"},{"created":"2026-01-29T16:46:18.722413+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nfkb2 has been classified as Green List (High Evidence).","entity_name":"NFKB2","entity_type":"gene"},{"created":"2026-01-29T16:46:09.239566+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.173","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NFKB2 as ready","entity_name":"NFKB2","entity_type":"gene"},{"created":"2026-01-29T16:46:09.232530+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.173","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nfkb2 has been classified as Green List (High Evidence).","entity_name":"NFKB2","entity_type":"gene"},{"created":"2026-01-29T16:45:39.059377+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.173","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene NFKB2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-29T16:45:38.990824+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.173","user_name":"Chirag Patel","item_type":"entity","text":"gene: NFKB2 was added\ngene: NFKB2 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFKB2 were set to 24140114; 24888602; 25524009; 31417880\nPhenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency","entity_name":"NFKB2","entity_type":"gene"},{"created":"2026-01-29T16:45:38.762603+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene NFKB2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-29T16:45:38.701508+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.56","user_name":"Chirag Patel","item_type":"entity","text":"gene: NFKB2 was added\ngene: NFKB2 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFKB2 were set to 24140114; 24888602; 25524009; 31417880\nPhenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency","entity_name":"NFKB2","entity_type":"gene"},{"created":"2026-01-29T16:33:03.192268+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.55","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: POLE as ready","entity_name":"POLE","entity_type":"gene"},{"created":"2026-01-29T16:33:03.182294+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.55","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pole has been classified as Green List (High Evidence).","entity_name":"POLE","entity_type":"gene"},{"created":"2026-01-29T16:33:01.211305+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.55","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: POLE as Green List (high evidence)","entity_name":"POLE","entity_type":"gene"},{"created":"2026-01-29T16:33:01.200713+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.55","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pole has been classified as Green List (High Evidence).","entity_name":"POLE","entity_type":"gene"},{"created":"2026-01-29T16:32:54.380675+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.54","user_name":"Chirag Patel","item_type":"entity","text":"gene: POLE was added\ngene: POLE was added to Adrenal insufficiency. Sources: Literature\nMode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLE were set to 30503519\nPhenotypes for gene: POLE were set to IMAGE-I syndrome, MONDO:0032684\nReview for gene: POLE was set to GREEN\nAdded comment: IMAGEI is an autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.\r\n15 individuals from 12 families reported with a recurrent intronic variant (c.1686+32C-G, intron 15) found in combination with multiple other variants. \nSources: Literature","entity_name":"POLE","entity_type":"gene"},{"created":"2026-01-29T15:34:44.416572+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4215","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: APPL1 were set to 26073777; 36208030","entity_name":"APPL1","entity_type":"gene"},{"created":"2026-01-29T15:34:22.670865+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4214","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: APPL1: Rating: RED; Mode of pathogenicity: None; Publications: 40779032; Phenotypes: ; Mode of inheritance: None","entity_name":"APPL1","entity_type":"gene"},{"created":"2026-01-29T15:14:41.177253+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.53","user_name":"Chirag Patel","item_type":"entity","text":"commented on gene: LIPA","entity_name":"LIPA","entity_type":"gene"},{"created":"2026-01-29T15:14:13.163291+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.53","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene LIPA from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-29T15:14:13.097955+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.53","user_name":"Chirag Patel","item_type":"entity","text":"gene: LIPA was added\ngene: LIPA was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services\ntreatable tags were added to gene: LIPA.\nMode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIPA were set to 11487567\nPhenotypes for gene: LIPA were set to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000; Lysosomal acid lipase deficiency, MONDO:0010204","entity_name":"LIPA","entity_type":"gene"},{"created":"2026-01-29T15:11:57.280275+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.52","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: PEX1 as ready","entity_name":"PEX1","entity_type":"gene"},{"created":"2026-01-29T15:11:57.270454+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.52","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pex1 has been classified as Green List (High Evidence).","entity_name":"PEX1","entity_type":"gene"},{"created":"2026-01-29T15:11:55.356177+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.52","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PEX1 as Green List (high evidence)","entity_name":"PEX1","entity_type":"gene"},{"created":"2026-01-29T15:11:55.344533+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.52","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pex1 has been classified as Green List (High Evidence).","entity_name":"PEX1","entity_type":"gene"},{"created":"2026-01-29T15:11:49.981538+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.51","user_name":"Chirag Patel","item_type":"entity","text":"gene: PEX1 was added\ngene: PEX1 was added to Adrenal insufficiency. Sources: Literature\nMode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100\nReview for gene: PEX1 was set to GREEN\nAdded comment: Well established gene-disease association. Small adrenals is a feature of the condition. \nSources: Literature","entity_name":"PEX1","entity_type":"gene"},{"created":"2026-01-29T15:08:20.712397+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.50","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene GLI3 from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null},{"created":"2026-01-29T15:05:38.518605+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.49","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene NR5A1 from panel Differences of Sex Development","entity_name":null,"entity_type":null},{"created":"2026-01-29T15:05:38.457772+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.49","user_name":"Chirag Patel","item_type":"entity","text":"gene: NR5A1 was added\ngene: NR5A1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: NR5A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NR5A1 were set to 31513305; 38650427; 20453312\nPhenotypes for gene: NR5A1 were set to Adrenocortical insufficiency, (MIM#612964); 46, XX sex reversal 4, (MIM# 617480); Premature ovarian failure 7, (MIM#612964); Spermatogenic failure 8, (MIM#613957); 46XY sex reversal 3, (MIM#612965)","entity_name":"NR5A1","entity_type":"gene"},{"created":"2026-01-29T15:02:57.402011+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4214","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene AIRE from panel Disorders of immune dysregulation","entity_name":null,"entity_type":null},{"created":"2026-01-29T15:02:47.451519+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.48","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene AIRE from panel Disorders of immune dysregulation","entity_name":null,"entity_type":null},{"created":"2026-01-29T15:02:47.392472+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.48","user_name":"Chirag Patel","item_type":"entity","text":"gene: AIRE was added\ngene: AIRE was added to Adrenal insufficiency. Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services\nMode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300","entity_name":"AIRE","entity_type":"gene"},{"created":"2026-01-29T14:56:25.288257+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.47","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene SGPL1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:56:25.234701+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.47","user_name":"Chirag Patel","item_type":"entity","text":"gene: SGPL1 was added\ngene: SGPL1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGPL1 were set to 33074640\nPhenotypes for gene: SGPL1 were set to RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2026-01-29T14:55:53.985046+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.46","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene ABCD1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:55:53.908539+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.46","user_name":"Chirag Patel","item_type":"entity","text":"gene: ABCD1 was added\ngene: ABCD1 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services\nMode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCD1 were set to Adrenoleukodystrophy MIM#300100","entity_name":"ABCD1","entity_type":"gene"},{"created":"2026-01-29T14:55:30.238504+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.45","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene MCM4 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:55:30.187016+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.45","user_name":"Chirag Patel","item_type":"entity","text":"gene: MCM4 was added\ngene: MCM4 was added to Adrenal insufficiency. Sources: Expert Review Amber,Victorian Clinical Genetics Services\nfounder tags were added to gene: MCM4.\nMode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM4 were set to 22354167; 22354170; 22499342\nPhenotypes for gene: MCM4 were set to Immunodeficiency 54 MIM# 609981; Decreased NK cell number and function; Viral infections (EBV, HSV, VZV); Short stature; B cell lymphoma; Adrenal failure; Failure to thrive; Microcephaly; Increased chromosomal breakage; Hyperpigmentation; Lymphadenopathy","entity_name":"MCM4","entity_type":"gene"},{"created":"2026-01-29T14:55:02.082839+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.44","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene AAAS from panel Prepair 1000+","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:55:01.960359+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.44","user_name":"Chirag Patel","item_type":"entity","text":"gene: AAAS was added\ngene: AAAS was added to Adrenal insufficiency. Sources: Expert Review Green,Mackenzie's Mission\nMode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AAAS were set to 29255950\nPhenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome, 231550 (3)","entity_name":"AAAS","entity_type":"gene"},{"created":"2026-01-29T14:53:48.559154+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.43","user_name":"Chirag Patel","item_type":"entity","text":"commented on gene: SAMD9","entity_name":"SAMD9","entity_type":"gene"},{"created":"2026-01-29T14:52:46.804258+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.43","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene SAMD9 from panel Differences of Sex Development","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:52:46.748956+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.43","user_name":"Chirag Patel","item_type":"entity","text":"gene: SAMD9 was added\ngene: SAMD9 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert Review\nMode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SAMD9 were set to 27182967\nPhenotypes for gene: SAMD9 were set to MIRAGE syndrome\t(MIM#617053)","entity_name":"SAMD9","entity_type":"gene"},{"created":"2026-01-29T14:51:41.743181+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4213","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GINS4 were set to 36345943","entity_name":"GINS4","entity_type":"gene"},{"created":"2026-01-29T14:51:20.602134+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4212","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GINS4 as Amber List (moderate evidence)","entity_name":"GINS4","entity_type":"gene"},{"created":"2026-01-29T14:51:20.592051+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gins4 has been classified as Amber List (Moderate Evidence).","entity_name":"GINS4","entity_type":"gene"},{"created":"2026-01-29T14:51:05.720284+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4211","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GINS4: Rating: AMBER; Mode of pathogenicity: None; Publications: 39914554, 40510848; Phenotypes: combined immunodeficiency MONDO:0015131; Mode of inheritance: None","entity_name":"GINS4","entity_type":"gene"},{"created":"2026-01-29T14:50:42.940529+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.42","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: WNT4 as ready","entity_name":"WNT4","entity_type":"gene"},{"created":"2026-01-29T14:50:42.930113+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.42","user_name":"Chirag Patel","item_type":"entity","text":"Gene: wnt4 has been classified as Red List (Low Evidence).","entity_name":"WNT4","entity_type":"gene"},{"created":"2026-01-29T14:50:35.651973+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.42","user_name":"Chirag Patel","item_type":"entity","text":"gene: WNT4 was added\ngene: WNT4 was added to Adrenal insufficiency. Sources: Expert List\nMode of inheritance for gene: WNT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT4 were set to 18179883\nPhenotypes for gene: WNT4 were set to SERKAL syndrome, OMIM #611812\nReview for gene: WNT4 was set to RED\nAdded comment: Biallelic variants in WNT4 have been linked to SERKAL syndrome, an autosomal recessive disorder characterized by 46,XX sex reversal and dysgenesis of the kidneys, adrenals, and lungs. SERKAL syndrome with adrenal anomalies has only been described in a single consanguineous kindred with four affected fetuses (A114V variant). \nSources: Expert List","entity_name":"WNT4","entity_type":"gene"},{"created":"2026-01-29T14:49:57.046087+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.142","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GINS4 were set to 36345943","entity_name":"GINS4","entity_type":"gene"},{"created":"2026-01-29T14:49:01.100497+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.141","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GINS4 as Amber List (moderate evidence)","entity_name":"GINS4","entity_type":"gene"},{"created":"2026-01-29T14:49:01.068705+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gins4 has been classified as Amber List (Moderate Evidence).","entity_name":"GINS4","entity_type":"gene"},{"created":"2026-01-29T14:48:26.529345+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GINS4: Changed rating: AMBER","entity_name":"GINS4","entity_type":"gene"},{"created":"2026-01-29T14:48:20.408083+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 40510848 reports 4 individuals from 3 unrelated families with same homozygous missense (p.Val171Met) variant and congenital neutropenia, growth retardation, NK‑cell deficiency and other immunodeficiency features.\r\n\r\nPMID 40768335 reports two affected siblings with compound heterozygous GINS4 variants (c.511G>C p.V171L and c.571C>T p.Q191X) presenting with childhood‑onset natural killer cell deficiency, recurrent viral infections, growth retardation and neutropenia. The parents are heterozygous carriers and clinically unaffected. Functional studies using patient‑derived iPSCs demonstrate reduced GINS4 protein, impaired NK‑cell lineage proliferation, G2/M arrest, increased apoptosis, and allele‑specific expression bias; CRISPR‑mediated correction rescues the NK‑cell phenotype, confirming causality.; to: PMID 40510848 reports 4 individuals from 3 unrelated families with same homozygous missense (p.Val171Met) variant and congenital neutropenia, growth retardation, NK‑cell deficiency and other immunodeficiency features.\r\n\r\nPMID 40768335 reports further studies on the previously reported siblings with compound heterozygous GINS4 variants (c.511G>C p.V171L and c.571C>T p.Q191X) presenting with childhood‑onset natural killer cell deficiency, recurrent viral infections, growth retardation and neutropenia. The parents are heterozygous carriers and clinically unaffected. Functional studies using patient‑derived iPSCs demonstrate reduced GINS4 protein, impaired NK‑cell lineage proliferation, G2/M arrest, increased apoptosis, and allele‑specific expression bias; CRISPR‑mediated correction rescues the NK‑cell phenotype, confirming causality.","entity_name":"GINS4","entity_type":"gene"},{"created":"2026-01-29T14:44:19.809935+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GINS4: Added comment: PMID 40510848 reports 4 individuals from 3 unrelated families with same homozygous missense (p.Val171Met) variant and congenital neutropenia, growth retardation, NK‑cell deficiency and other immunodeficiency features.\r\n\r\nPMID 40768335 reports two affected siblings with compound heterozygous GINS4 variants (c.511G>C p.V171L and c.571C>T p.Q191X) presenting with childhood‑onset natural killer cell deficiency, recurrent viral infections, growth retardation and neutropenia. The parents are heterozygous carriers and clinically unaffected. Functional studies using patient‑derived iPSCs demonstrate reduced GINS4 protein, impaired NK‑cell lineage proliferation, G2/M arrest, increased apoptosis, and allele‑specific expression bias; CRISPR‑mediated correction rescues the NK‑cell phenotype, confirming causality.; Changed publications: 39914554, 40510848","entity_name":"GINS4","entity_type":"gene"},{"created":"2026-01-29T14:43:38.868123+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.41","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene NNT from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:43:38.800105+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.41","user_name":"Chirag Patel","item_type":"entity","text":"gene: NNT was added\ngene: NNT was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NNT were set to 22634753; 23474776; 25879317; 26070314; 27129361; 40709434\nPhenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736","entity_name":"NNT","entity_type":"gene"},{"created":"2026-01-29T14:43:15.427462+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.40","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene MRAP from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:43:15.375414+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.40","user_name":"Chirag Patel","item_type":"entity","text":"gene: MRAP was added\ngene: MRAP was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRAP were set to 15654338\nPhenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, MIM# 607398","entity_name":"MRAP","entity_type":"gene"},{"created":"2026-01-29T14:42:54.696391+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.39","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene MC2R from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:42:54.562812+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.39","user_name":"Chirag Patel","item_type":"entity","text":"gene: MC2R was added\ngene: MC2R was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services\ntreatable tags were added to gene: MC2R.\nMode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MC2R were set to 8094489; 8227361\nPhenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200","entity_name":"MC2R","entity_type":"gene"},{"created":"2026-01-29T14:42:00.777876+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.38","user_name":"Chirag Patel","item_type":"entity","text":"commented on gene: PCSK1","entity_name":"PCSK1","entity_type":"gene"},{"created":"2026-01-29T14:41:22.331578+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.38","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene PCSK1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:41:22.274094+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.38","user_name":"Chirag Patel","item_type":"entity","text":"gene: PCSK1 was added\ngene: PCSK1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCSK1 were set to 30383237\nPhenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing MIM#600955","entity_name":"PCSK1","entity_type":"gene"},{"created":"2026-01-29T14:39:52.253697+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.37","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene POMC from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:39:52.172169+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.37","user_name":"Chirag Patel","item_type":"entity","text":"gene: POMC was added\ngene: POMC was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMC were set to 33666293\nPhenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734","entity_name":"POMC","entity_type":"gene"},{"created":"2026-01-29T14:37:24.066654+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4211","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSNK1E were set to 30488659","entity_name":"CSNK1E","entity_type":"gene"},{"created":"2026-01-29T14:37:03.499479+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4210","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CSNK1E: Added comment: PMID 40751262 identifies a heterozygous CGG repeat expansion in the 5′‑UTR of CSNK1E associated with progressive myoclonic epilepsy, ataxia and cognitive decline onset at 10 years, showing incomplete penetrance (present in unaffected sister).; Changed publications: 30488659, 40751262","entity_name":"CSNK1E","entity_type":"gene"},{"created":"2026-01-29T14:36:25.507673+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.362","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSNK1E were set to 30488659","entity_name":"CSNK1E","entity_type":"gene"},{"created":"2026-01-29T14:35:55.929335+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.36","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene SIX3 from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:35:55.880182+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.36","user_name":"Chirag Patel","item_type":"entity","text":"gene: SIX3 was added\ngene: SIX3 was added to Adrenal insufficiency. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SIX3 were set to 35951005\nPhenotypes for gene: SIX3 were set to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762","entity_name":"SIX3","entity_type":"gene"},{"created":"2026-01-29T14:35:52.954259+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.361","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CSNK1E: Added comment: PMID 40751262 identifies a heterozygous CGG repeat expansion in the 5′‑UTR of CSNK1E associated with progressive myoclonic epilepsy, ataxia and cognitive decline onset at 10 years, showing incomplete penetrance (present in unaffected sister).; Changed publications: 30488659, 40751262","entity_name":"CSNK1E","entity_type":"gene"},{"created":"2026-01-29T14:34:26.641270+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.35","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene GPR161 from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:34:26.584378+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.35","user_name":"Chirag Patel","item_type":"entity","text":"gene: GPR161 was added\ngene: GPR161 was added to Adrenal insufficiency. Sources: Expert Review Red,Genomics England PanelApp,Genomics England PanelApp\nMode of inheritance for gene: GPR161 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPR161 were set to 25322266\nPhenotypes for gene: GPR161 were set to Pituitary stalk interruption syndrome MONDO:0019828, GPR161-related","entity_name":"GPR161","entity_type":"gene"},{"created":"2026-01-29T14:34:06.928059+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.34","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene TGIF1 from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:34:06.875978+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.34","user_name":"Chirag Patel","item_type":"entity","text":"gene: TGIF1 was added\ngene: TGIF1 was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TGIF1 were set to 23476075, 34440302\nPhenotypes for gene: TGIF1 were set to Holoprosencephaly 4, MONDO:0007734","entity_name":"TGIF1","entity_type":"gene"},{"created":"2026-01-29T14:33:50.942584+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.33","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene SHH from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:33:50.891046+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.33","user_name":"Chirag Patel","item_type":"entity","text":"gene: SHH was added\ngene: SHH was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SHH were set to 22897141\nPhenotypes for gene: SHH were set to Hypopituitarism, MONDO:0005152; Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3  (142945)","entity_name":"SHH","entity_type":"gene"},{"created":"2026-01-29T14:33:34.758026+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.32","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene RBM28 from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:33:34.703565+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.32","user_name":"Chirag Patel","item_type":"entity","text":"gene: RBM28 was added\ngene: RBM28 was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBM28 were set to 20231366; 18439547; 33941690\nPhenotypes for gene: RBM28 were set to ANE syndrome; Alopecia, neurologic defects, and endocrinopathy syndrome (612079)","entity_name":"RBM28","entity_type":"gene"},{"created":"2026-01-29T14:33:06.890689+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.31","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene RAX from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null},{"created":"2026-01-29T14:33:06.835139+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.31","user_name":"Chirag Patel","item_type":"entity","text":"gene: RAX was added\ngene: RAX was added to Adrenal insufficiency. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAX were set to 30811539, 40321348\nPhenotypes for gene: RAX were set to Microphthalmia, syndromic 16, MIM#611038","entity_name":"RAX","entity_type":"gene"},{"created":"2026-01-29T14:32:48.204306+11:00","panel_name":"Adrenal insufficiency","panel_id":4523,"panel_version":"0.30","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene KCNQ1 from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null}]}