{"count":220212,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=3","previous":"https://panelapp-aus.org/api/v1/activities/?format=json","results":[{"created":"2026-04-02T15:14:49.250753+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.206","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nkx2-1 has been classified as Red List (Low Evidence).","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:14:40.501272+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.205","user_name":"Chirag Patel","item_type":"entity","text":"edited their review of gene: NKX2-1: Added comment: PMID 30186310 reports 2 affected individuals (father-daughter) from 1 unrelated family (heterozygous nonsense variant - c.338G>A p.Trp113*) presenting with hypogonadotropic hypogonadism and growth‑hormone deficiency. PMID 33270637 reports 1 affected individual (heterozygous missense variant - c.67G>C) with pituitary stalk interruption syndrome, choreoathetosis and hypogonadotropic hypogonadism. No segregation data for 2nd case. No functional validation for both variants.; Changed rating: RED; Changed publications: 33270637, 30186310; Changed phenotypes: NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:14:13.615001+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.205","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NKX2-1 as Red List (low evidence)","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:14:13.601398+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.205","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nkx2-1 has been classified as Red List (Low Evidence).","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:14:02.370527+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.106","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NKX2-1 as Red List (low evidence)","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:14:02.360099+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.106","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nkx2-1 has been classified as Red List (Low Evidence).","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:14:02.270155+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.105","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NKX2-1 as Red List (low evidence)","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:14:02.262292+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.105","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nkx2-1 has been classified as Red List (Low Evidence).","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:13:26.989472+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.104","user_name":"Chirag Patel","item_type":"entity","text":"edited their review of gene: NKX2-1: Added comment: PMID 30186310 reports 2 affected individuals (father-daughter) from 1 unrelated family (heterozygous nonsense variant - c.338G>A p.Trp113*) presenting with hypogonadotropic hypogonadism and growth‑hormone deficiency. PMID 33270637 reports 1 affected individual (heterozygous missense variant - c.67G>C) with pituitary stalk interruption syndrome, choreoathetosis and hypogonadotropic hypogonadism. No segregation data for 2nd case. No functional validation for both variants.; Changed rating: RED; Changed publications: 33270637, 30186310; Changed phenotypes: NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:09:53.407197+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.204","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene NKX2-1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-04-02T15:09:53.319242+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.204","user_name":"Chirag Patel","item_type":"entity","text":"gene: NKX2-1 was added\ngene: NKX2-1 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services\nMode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NKX2-1 were set to 10931427; 27066577; 26839702; 26103969\nPhenotypes for gene: NKX2-1 were set to NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520; Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:09:53.052567+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.104","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene NKX2-1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-04-02T15:09:52.986945+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.104","user_name":"Chirag Patel","item_type":"entity","text":"gene: NKX2-1 was added\ngene: NKX2-1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services\nMode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NKX2-1 were set to 10931427; 27066577; 26839702; 26103969\nPhenotypes for gene: NKX2-1 were set to NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520; Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:08:53.622556+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4705","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene NKX2-1 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2026-04-02T15:02:32.809552+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.202","user_name":"Chirag Patel","item_type":"entity","text":"Mode of inheritance for gene: NKX2-1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:02:23.701343+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.202","user_name":"Chirag Patel","item_type":"entity","text":"Mode of inheritance for gene: NKX2-1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:02:17.575969+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.202","user_name":"Chirag Patel","item_type":"entity","text":"Mode of inheritance for gene: NKX2-1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T15:01:45.408547+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.556","user_name":"Chirag Patel","item_type":"entity","text":"Mode of inheritance for gene: NKX2-1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2026-04-02T14:53:13.010616+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.203","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene ARHGAP5 from panel Hypogonadotropic hypogonadism","entity_name":null,"entity_type":null},{"created":"2026-04-02T14:53:12.954963+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.203","user_name":"Chirag Patel","item_type":"entity","text":"gene: ARHGAP5 was added\ngene: ARHGAP5 was added to Pituitary hormone deficiency. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ARHGAP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ARHGAP5 were set to 39308770; 36178483\nPhenotypes for gene: ARHGAP5 were set to Kallmann syndrome MONDO:0018800","entity_name":"ARHGAP5","entity_type":"gene"},{"created":"2026-04-02T14:53:12.684662+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4704","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene ARHGAP5 from panel Hypogonadotropic hypogonadism","entity_name":null,"entity_type":null},{"created":"2026-04-02T14:53:11.518560+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4704","user_name":"Chirag Patel","item_type":"entity","text":"gene: ARHGAP5 was added\ngene: ARHGAP5 was added to Mendeliome. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ARHGAP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ARHGAP5 were set to 39308770; 36178483\nPhenotypes for gene: ARHGAP5 were set to Kallmann syndrome MONDO:0018800","entity_name":"ARHGAP5","entity_type":"gene"},{"created":"2026-04-02T14:52:38.540025+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.103","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: ARHGAP5 as ready","entity_name":"ARHGAP5","entity_type":"gene"},{"created":"2026-04-02T14:52:38.532852+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.103","user_name":"Chirag Patel","item_type":"entity","text":"Gene: arhgap5 has been classified as Red List (Low Evidence).","entity_name":"ARHGAP5","entity_type":"gene"},{"created":"2026-04-02T14:52:26.230100+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.103","user_name":"Chirag Patel","item_type":"entity","text":"gene: ARHGAP5 was added\ngene: ARHGAP5 was added to Hypogonadotropic hypogonadism. Sources: Literature\nMode of inheritance for gene: ARHGAP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ARHGAP5 were set to 39308770; 36178483\nPhenotypes for gene: ARHGAP5 were set to Kallmann syndrome MONDO:0018800\nReview for gene: ARHGAP5 was set to RED\nAdded comment: PMID 36178483 reports 2 individuals from 2 unrelated families with heterozygous truncating variants in ARHGAP5 (p.Phe790Ilefs*2, p.Tyr502Metfs*3) presenting with hypogonadotropic hypogonadism/Kallmann syndrome (childhood onset, anosmia). One variant was de novo and the other had unknown parental status. Functional zebrafish modeling showed no robust GnRH phenotype. \r\n\r\nPMID 39308770 reported 1 patient with hypogonadotropic hypogonadism and a heterozygous ARHGAP5 variant (p.Val269Leu - classified as VUS) but provided no detailed phenotype, segregation or functional data. \nSources: Literature","entity_name":"ARHGAP5","entity_type":"gene"},{"created":"2026-04-02T14:41:10.404428+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.202","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: AMH as ready","entity_name":"AMH","entity_type":"gene"},{"created":"2026-04-02T14:41:10.393773+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.202","user_name":"Chirag Patel","item_type":"entity","text":"Gene: amh has been classified as Amber List (Moderate Evidence).","entity_name":"AMH","entity_type":"gene"},{"created":"2026-04-02T14:41:04.251450+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.202","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene AMH from panel Hypogonadotropic hypogonadism","entity_name":null,"entity_type":null},{"created":"2026-04-02T14:41:04.187656+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.202","user_name":"Chirag Patel","item_type":"entity","text":"gene: AMH was added\ngene: AMH was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: AMH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: AMH were set to 31291191\nPhenotypes for gene: AMH were set to Hypogonadotropic hypogonadism, MONDO:0018555","entity_name":"AMH","entity_type":"gene"},{"created":"2026-04-02T14:40:10.500799+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4703","user_name":"Chirag Patel","item_type":"entity","text":"Mode of inheritance for gene: AMH was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AMH","entity_type":"gene"},{"created":"2026-04-02T14:39:51.947159+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4702","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: AMH were changed from Persistent Mullerian duct syndrome, type I (MIM#261550) to Persistent Mullerian duct syndrome, type I (MIM#261550); Hypogonadotropic hypogonadism, MONDO:0018555","entity_name":"AMH","entity_type":"gene"},{"created":"2026-04-02T14:39:41.651713+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4701","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: AMH were set to 32172781; 31291191","entity_name":"AMH","entity_type":"gene"},{"created":"2026-04-02T14:39:41.133869+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4701","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: AMH were set to 32172781","entity_name":"AMH","entity_type":"gene"},{"created":"2026-04-02T14:39:28.146047+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4700","user_name":"Chirag Patel","item_type":"entity","text":"Mode of inheritance for gene: AMH was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"AMH","entity_type":"gene"},{"created":"2026-04-02T14:39:10.935981+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4699","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene AMH from panel Hypogonadotropic hypogonadism","entity_name":null,"entity_type":null},{"created":"2026-04-02T14:38:51.134336+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.102","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: AMH as Amber List (moderate evidence)","entity_name":"AMH","entity_type":"gene"},{"created":"2026-04-02T14:38:51.127405+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.102","user_name":"Chirag Patel","item_type":"entity","text":"Gene: amh has been classified as Amber List (Moderate Evidence).","entity_name":"AMH","entity_type":"gene"},{"created":"2026-04-02T14:38:46.799714+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.101","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: AMH as ready","entity_name":"AMH","entity_type":"gene"},{"created":"2026-04-02T14:38:46.788966+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.101","user_name":"Chirag Patel","item_type":"entity","text":"Gene: amh has been classified as Red List (Low Evidence).","entity_name":"AMH","entity_type":"gene"},{"created":"2026-04-02T14:38:43.948156+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.101","user_name":"Chirag Patel","item_type":"entity","text":"gene: AMH was added\ngene: AMH was added to Hypogonadotropic hypogonadism. Sources: Literature\nMode of inheritance for gene: AMH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: AMH were set to 31291191\nPhenotypes for gene: AMH were set to Hypogonadotropic hypogonadism, MONDO:0018555\nReview for gene: AMH was set to AMBER\nAdded comment: PMID 31291191 reports 3 individuals from 3 unrelated families with heterozygous missense variants in AMH gene (p.Thr99Ser, p.Pro151Ser, p.Asp238Glu). They presented with childhood‑onset hypogonadotropic hypogonadism (CHH) often with variable anosmia (Kallmann syndrome). Two variants were inherited from an affected parent, and 1 variant had unknown parental status. Functional studies demonstrated significantly reduced AMH secretion in transfected COS-7 cells, impaired GnRH‑neuron migration, and decreased GnRH release. AMH is expressed in migratory GnRH neurons in both mouse and human fetuses. \nSources: Literature","entity_name":"AMH","entity_type":"gene"},{"created":"2026-04-02T14:24:59.221302+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.201","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: SOX11 as ready","entity_name":"SOX11","entity_type":"gene"},{"created":"2026-04-02T14:24:59.214224+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.201","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sox11 has been classified as Green List (High Evidence).","entity_name":"SOX11","entity_type":"gene"},{"created":"2026-04-02T14:23:11.687785+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.201","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene SOX11 from panel Hypogonadotropic hypogonadism","entity_name":null,"entity_type":null},{"created":"2026-04-02T14:23:11.611890+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.201","user_name":"Chirag Patel","item_type":"entity","text":"gene: SOX11 was added\ngene: SOX11 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Expert Review,Expert Review\nMode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX11 were set to 29459093; 24886874; 33086258; 33785884; 35642566; 35341651\nPhenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866","entity_name":"SOX11","entity_type":"gene"},{"created":"2026-04-02T13:16:25.970652+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4698","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ACTL6A: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004045; Phenotypes: ACTL6A-related BAFopathy MONDO:0700121; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTL6A","entity_type":"gene"},{"created":"2026-04-02T12:36:26.452631+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.200","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene NDNF from panel Hypogonadotropic hypogonadism","entity_name":null,"entity_type":null},{"created":"2026-04-02T12:36:26.182535+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4698","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene NDNF from panel Hypogonadotropic hypogonadism","entity_name":null,"entity_type":null},{"created":"2026-04-02T12:36:13.184815+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.46","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene NDNF from panel Hypogonadotropic hypogonadism","entity_name":null,"entity_type":null},{"created":"2026-04-02T12:34:54.223335+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.100","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NDNF: Rating: AMBER; Mode of pathogenicity: None; Publications: 36245975; Phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDNF","entity_type":"gene"},{"created":"2026-04-02T11:51:29.927456+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.120","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: IYD were changed from Thyroid dyshormonogenesis 4, MIM# 274800 to Thyroid dyshormonogenesis 4, MIM# 274800","entity_name":"IYD","entity_type":"gene"},{"created":"2026-04-02T11:51:29.711658+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.119","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: IYD were changed from childhood/adolescent onset hypothyroidism; Thyroid dyshormonogenesis 4, 274800; normal iodide organification; Congenital hypothyroidism; raised urinary MIT and DIT; goitre to Thyroid dyshormonogenesis 4, MIM# 274800","entity_name":"IYD","entity_type":"gene"},{"created":"2026-04-02T11:51:18.216475+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.118","user_name":"Chirag Patel","item_type":"entity","text":"Mode of inheritance for gene: IYD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IYD","entity_type":"gene"},{"created":"2026-04-02T11:51:04.650325+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4697","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene IYD from panel Congenital hypothyroidism","entity_name":null,"entity_type":null},{"created":"2026-04-02T11:50:42.044424+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.117","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: IYD as ready","entity_name":"IYD","entity_type":"gene"},{"created":"2026-04-02T11:50:42.037048+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.117","user_name":"Chirag Patel","item_type":"entity","text":"Gene: iyd has been classified as Green List (High Evidence).","entity_name":"IYD","entity_type":"gene"},{"created":"2026-04-02T11:50:36.653718+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.117","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 39106437, 36633921; Phenotypes: Thyroid dyshormonogenesis 4, MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IYD","entity_type":"gene"},{"created":"2026-04-02T11:48:44.115292+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.555","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WSB2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related to Luo-Agrawal neurodevelopmental syndrome, MIM# 621552","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:48:30.863035+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.554","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Luo-Agrawal neurodevelopmental syndrome, MIM# 621552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:48:13.409499+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.743","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WSB2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related to Luo-Agrawal neurodevelopmental syndrome, MIM# 621552","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:47:46.447647+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.742","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Luo-Agrawal neurodevelopmental syndrome, MIM# 621552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:47:29.172695+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.593","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WSB2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related to Luo-Agrawal neurodevelopmental syndrome, MIM# 621552","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:46:55.261344+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.592","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Luo-Agrawal neurodevelopmental syndrome, MIM# 621552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:46:37.320488+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.408","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WSB2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related to Luo-Agrawal neurodevelopmental syndrome, MIM# 621552","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:45:58.120028+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.407","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Luo-Agrawal neurodevelopmental syndrome, MIM# 621552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:45:40.888386+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WSB2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related to Luo-Agrawal neurodevelopmental syndrome, MIM# 621552","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:45:05.900049+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.121","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Luo-Agrawal neurodevelopmental syndrome, MIM# 621552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:44:49.201855+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.426","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WSB2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related to Luo-Agrawal neurodevelopmental syndrome, MIM# 621552","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:44:14.721240+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.425","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Luo-Agrawal neurodevelopmental syndrome, MIM# 621552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:43:53.635663+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4696","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WSB2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related to Luo-Agrawal neurodevelopmental syndrome, MIM# 621552","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:43:36.763182+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4695","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Luo-Agrawal neurodevelopmental syndrome, MIM# 621552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:43:16.770553+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WSB2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related to Luo-Agrawal neurodevelopmental syndrome, MIM# 621552","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:42:43.514071+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Luo-Agrawal neurodevelopmental syndrome, MIM# 621552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WSB2","entity_type":"gene"},{"created":"2026-04-02T11:35:22.974678+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4695","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CADM3: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:009251; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2FF MONDO:0030433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CADM3","entity_type":"gene"},{"created":"2026-04-02T11:33:07.177013+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4695","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: PMID 41830586 reports 4 individuals from 4 families with heterozygous missense KCNJ4 variants presenting with refractory epilepsy and neurodevelopmental delay/intellectual disability. Clinical features range from isolated epilepsy to severe developmental and epileptic encephalopathy. Two variants arose de novo and two had unknown segregation status. Electrophysiology in Xenopus oocytes demonstrates variant‑specific gain‑of‑function (Gly136Ser and Glu384Lys) or loss‑of‑function effects (Val206Met and Met293Lys). \nSources: Literature; to: PMID 41830586 reports 4 individuals from 4 families with rare heterozygous missense KCNJ4 variants presenting with refractory epilepsy and neurodevelopmental delay/intellectual disability. Clinical features range from isolated epilepsy to severe developmental and epileptic encephalopathy. Two variants arose de novo and two had unknown segregation status. Electrophysiology in Xenopus oocytes demonstrates variant‑specific gain‑of‑function (Gly136Ser and Glu384Lys) or loss‑of‑function effects (Val206Met and Met293Lys). \r\nSources: Literature","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T11:32:56.853483+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.407","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: PMID 41830586 reports 4 individuals from 4 families with heterozygous missense KCNJ4 variants presenting with refractory epilepsy and neurodevelopmental delay/intellectual disability. Clinical features range from isolated epilepsy to severe developmental and epileptic encephalopathy. Two variants arose de novo and two had unknown segregation status. Electrophysiology in Xenopus oocytes demonstrates variant‑specific gain‑of‑function (Gly136Ser and Glu384Lys) or loss‑of‑function effects (Val206Met and Met293Lys). \nSources: Literature; to: PMID 41830586 reports 4 individuals from 4 families with rare heterozygous missense KCNJ4 variants presenting with refractory epilepsy and neurodevelopmental delay/intellectual disability. Clinical features range from isolated epilepsy to severe developmental and epileptic encephalopathy. Two variants arose de novo and two had unknown segregation status. Electrophysiology in Xenopus oocytes demonstrates variant‑specific gain‑of‑function (Gly136Ser and Glu384Lys) or loss‑of‑function effects (Val206Met and Met293Lys). \r\nSources: Literature","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T11:32:47.358510+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.742","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: PMID 41830586 reports 4 individuals from 4 families with heterozygous missense KCNJ4 variants presenting with refractory epilepsy and neurodevelopmental delay/intellectual disability. Clinical features range from isolated epilepsy to severe developmental and epileptic encephalopathy. Two variants arose de novo and two had unknown segregation status. Electrophysiology in Xenopus oocytes demonstrates variant‑specific gain‑of‑function (Gly136Ser and Glu384Lys) or loss‑of‑function effects (Val206Met and Met293Lys). \nSources: Literature; to: PMID 41830586 reports 4 individuals from 4 families with rare heterozygous missense KCNJ4 variants presenting with refractory epilepsy and neurodevelopmental delay/intellectual disability. Clinical features range from isolated epilepsy to severe developmental and epileptic encephalopathy. Two variants arose de novo and two had unknown segregation status. Electrophysiology in Xenopus oocytes demonstrates variant‑specific gain‑of‑function (Gly136Ser and Glu384Lys) or loss‑of‑function effects (Val206Met and Met293Lys). \r\nSources: Literature","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T11:32:19.912021+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.742","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: KCNJ4 as ready","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T11:32:19.901947+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.742","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcnj4 has been classified as Green List (High Evidence).","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T11:32:08.508681+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.407","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: KCNJ4 as ready","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T11:32:08.496477+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.407","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcnj4 has been classified as Green List (High Evidence).","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T11:31:40.749108+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.742","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene KCNJ4 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-04-02T11:31:40.317805+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.742","user_name":"Chirag Patel","item_type":"entity","text":"gene: KCNJ4 was added\ngene: KCNJ4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: KCNJ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ4 were set to 41830586\nPhenotypes for gene: KCNJ4 were set to Neurodevelopmental disorder, MONDO:0700092, KCNJ4-related\nMode of pathogenicity for gene: KCNJ4 was set to Other","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T11:30:58.856932+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.407","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene KCNJ4 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-04-02T11:30:58.518598+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.407","user_name":"Chirag Patel","item_type":"entity","text":"gene: KCNJ4 was added\ngene: KCNJ4 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: KCNJ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ4 were set to 41830586\nPhenotypes for gene: KCNJ4 were set to Neurodevelopmental disorder, MONDO:0700092, KCNJ4-related\nMode of pathogenicity for gene: KCNJ4 was set to Other","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T11:29:51.152947+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4695","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: KCNJ4 as ready","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T11:29:51.145539+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4695","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcnj4 has been classified as Green List (High Evidence).","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T11:25:25.031639+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4695","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KCNJ4 as Green List (high evidence)","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T11:25:25.018065+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4695","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcnj4 has been classified as Green List (High Evidence).","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T11:25:11.283343+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4694","user_name":"Chirag Patel","item_type":"entity","text":"gene: KCNJ4 was added\ngene: KCNJ4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KCNJ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ4 were set to 41830586\nPhenotypes for gene: KCNJ4 were set to Neurodevelopmental disorder, MONDO:0700092, KCNJ4-related\nMode of pathogenicity for gene: KCNJ4 was set to Other\nReview for gene: KCNJ4 was set to GREEN\nAdded comment: PMID 41830586 reports 4 individuals from 4 families with heterozygous missense KCNJ4 variants presenting with refractory epilepsy and neurodevelopmental delay/intellectual disability. Clinical features range from isolated epilepsy to severe developmental and epileptic encephalopathy. Two variants arose de novo and two had unknown segregation status. Electrophysiology in Xenopus oocytes demonstrates variant‑specific gain‑of‑function (Gly136Ser and Glu384Lys) or loss‑of‑function effects (Val206Met and Met293Lys). \nSources: Literature","entity_name":"KCNJ4","entity_type":"gene"},{"created":"2026-04-02T10:47:20.467858+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.85","user_name":"Sarah Milton","item_type":"panel","text":"Added reviews for gene PIGM from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-04-01T17:28:31.720695+11:00","panel_name":"Overgrowth","panel_id":151,"panel_version":"1.21","user_name":"Lucy Spencer","item_type":"panel","text":"Added reviews for gene SPIN4 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-04-01T17:27:36.748983+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4693","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: SPIN4: Rating: AMBER; Mode of pathogenicity: None; Publications: Lui-Jee-Baron syndrome MIM#301114; Phenotypes: 41780720, 41158422; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"SPIN4","entity_type":"gene"},{"created":"2026-04-01T17:07:04.136892+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.741","user_name":"Lucy Spencer","item_type":"panel","text":"Copied gene WDTC1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-04-01T17:07:03.767384+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.741","user_name":"Lucy Spencer","item_type":"entity","text":"gene: WDTC1 was added\ngene: WDTC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: WDTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDTC1 were set to 41793087\nPhenotypes for gene: WDTC1 were set to Neurodevelopmental disorder MONDO:0700092, WDTC1-related","entity_name":"WDTC1","entity_type":"gene"},{"created":"2026-04-01T17:06:21.611766+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.406","user_name":"Lucy Spencer","item_type":"panel","text":"Copied gene WDTC1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-04-01T17:06:21.230514+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.406","user_name":"Lucy Spencer","item_type":"entity","text":"gene: WDTC1 was added\ngene: WDTC1 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: WDTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDTC1 were set to 41793087\nPhenotypes for gene: WDTC1 were set to Neurodevelopmental disorder MONDO:0700092, WDTC1-related","entity_name":"WDTC1","entity_type":"gene"},{"created":"2026-04-01T17:05:03.912547+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4693","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: WDTC1 as Amber List (moderate evidence)","entity_name":"WDTC1","entity_type":"gene"},{"created":"2026-04-01T17:05:03.905469+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4693","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: wdtc1 has been classified as Amber List (Moderate Evidence).","entity_name":"WDTC1","entity_type":"gene"},{"created":"2026-04-01T17:04:30.835679+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4692","user_name":"Lucy Spencer","item_type":"entity","text":"gene: WDTC1 was added\ngene: WDTC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WDTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDTC1 were set to 41793087\nPhenotypes for gene: WDTC1 were set to Neurodevelopmental disorder MONDO:0700092, WDTC1-related\nReview for gene: WDTC1 was set to AMBER\nAdded comment: PMID 41793087 reports 7 individuals from 6 unrelated families with heterozygous variants in WDTC1. 1 from the DDD study. 3 missense, 2 PTCs, 1 canonical splice. 2 missense and 1 PTC were de novo, no inheritance info for the splice. The other PTC was inherited from an affected mother (mild ID and seizures), and the other missense was paternally inherited from an unaffected father- this variant Arg675Gln also has 15 hets in gnomad. The other 2 missense are also present in gnomad with 2 and 7 hets, while the PTC and splice variants are absent or only have 1 het (PTCS in general are also rare in gnomad in this gene).  \r\n\r\nThe features in these probands were quite general-  developmental delay, intellectual disability, seizures and variable additional features such as autism, ADHD and facial dysmorphism. No experimental functional validation was provided.\r\n\r\nOnly counting the PTCs and splice due to the gnomad counts for the missense we have 4 patients from 3 families, only 1 de novo, 1 inherited from a mildly affected mother and all with a very general phenotype with no experimental evidence. Keeping as amber for the moment \nSources: Literature","entity_name":"WDTC1","entity_type":"gene"},{"created":"2026-04-01T16:50:41.597704+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.222","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Tag refuted tag was added to gene: APPL1.","entity_name":"APPL1","entity_type":"gene"}]}