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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=96",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=94",
"results": [
{
"created": "2025-12-11T10:28:14.485984+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.23",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene HID1 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:28:14.411485+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.23",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HID1 was added\ngene: HID1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature\nMode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HID1 were set to 33999436\nPhenotypes for gene: HID1 were set to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983",
"entity_name": "HID1",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:27:24.331146+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.22",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: HAMP",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:27:19.975535+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.22",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: HFE",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:27:14.788678+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.22",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: HFE2",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:26:26.518201+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.22",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene HAMP from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:26:26.480468+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.22",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HAMP was added\ngene: HAMP was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HAMP were set to 12469120; 34828384; 15198949\nPhenotypes for gene: HAMP were set to Haemochromatosis, type 2B, MIM# 613313",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:26:18.606163+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.21",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene HESX1 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:26:18.567169+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.21",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HESX1 was added\ngene: HESX1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HESX1 were set to 14561704; 26781211; 11136712; 16940453\nPhenotypes for gene: HESX1 were set to Growth hormone deficiency with pituitary anomalies (182230); Pituitary hormone deficiency, combined, 5 (182230)",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:26:13.064134+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.20",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene HFE from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:26:13.003430+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.20",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HFE was added\ngene: HFE was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE were set to Haemochromatosis, MIM# 235200",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:26:07.919443+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene HFE2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:26:07.880492+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HFE2 was added\ngene: HFE2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nnew gene name tags were added to gene: HFE2.\nMode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, MIM# 602390",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:22:40.223591+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.18",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene GNRHR from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:22:40.182940+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GNRHR was added\ngene: GNRHR was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp,Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia (146110)",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:22:32.066204+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene GNRH1 from panel Differences of Sex Development",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:22:32.011017+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GNRH1 was added\ngene: GNRH1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNRH1 were set to 19535795; 19567835; 32134721; 31200363; 26595427\nPhenotypes for gene: GNRH1 were set to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841",
"entity_name": "GNRH1",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:22:26.386472+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene GNAI2 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:22:26.297344+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GNAI2 was added\ngene: GNAI2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature\nMode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNAI2 were set to 31036916; 40926810; 39298586\nPhenotypes for gene: GNAI2 were set to Syndromic disease MONDO:0002254, GNAI2-related",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:22:18.772937+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene GLI3 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:22:18.709321+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GLI3 was added\ngene: GLI3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp,Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GLI3 were set to 24736735; 15739154\nPhenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510)",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:21:17.810000+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene GLI2 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:21:17.768779+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GLI2 was added\ngene: GLI2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review Green,Genomics England PanelApp,Victorian Clinical Genetics Services\nMode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GLI2 were set to 14581620; 25878059\nPhenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829)",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:21:07.062808+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.13",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene FSHB from panel Differences of Sex Development",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:21:06.998020+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FSHB was added\ngene: FSHB was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: FSHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FSHB were set to 8220432; 9280841; 9624193; 9806482; 9271483; 16630814\nPhenotypes for gene: FSHB were set to Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:20:57.356871+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene FOXA2 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:20:57.303992+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FOXA2 was added\ngene: FOXA2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXA2 were set to 28973288, 29329447, 30414530, 33729509, 31294511, 33999151\nPhenotypes for gene: FOXA2 were set to Hypopituitarism, MONDO:0005152; Hyperinsulinism, MONDO:0002177",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:20:49.366732+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene FGFR1 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:20:49.315787+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FGFR1 was added\ngene: FGFR1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FGFR1 were set to 12627230, 18034870, 16606836, 15001591\nPhenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia 147950",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:19:02.553801+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene FGF8 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:19:02.333224+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FGF8 was added\ngene: FGF8 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review Green,Genomics England PanelApp,Victorian Clinical Genetics Services\nMode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FGF8 were set to 22319038; 21832120; 20463092\nPhenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia (612702)",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:18:54.511575+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene FGF17 from panel Differences of Sex Development",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:18:54.472886+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FGF17 was added\ngene: FGF17 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: FGF17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGF17 were set to 23643382; 31748124",
"entity_name": "FGF17",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:18:43.796698+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene EIF2S3 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:18:43.752178+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EIF2S3 was added\ngene: EIF2S3 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genetic Health Queensland,Genetic Health Queensland\nMode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: EIF2S3 were set to 23063529; 27333055; 28055140; 32799315\nPhenotypes for gene: EIF2S3 were set to MEHMO syndrome, MIM# 300148",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:18:05.105179+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene DCAF17 from panel Differences of Sex Development",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:18:05.000131+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DCAF17 was added\ngene: DCAF17 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCAF17 were set to 19026396; 20507343; 35002959; 34877714; 34732557; 34590781\nPhenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM#\t241080",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:17:49.148580+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CUL4B from panel Differences of Sex Development",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:17:49.076593+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CUL4B was added\ngene: CUL4B was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert Review Green,Expert list,Victorian Clinical Genetics Services\nMode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CUL4B were set to PMID: 25385192\nPhenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type)\t300354",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:17:32.523930+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene CHD7 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:17:32.449087+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CHD7 was added\ngene: CHD7 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CHD7 were set to 29152903; 30733481; 18834967\nPhenotypes for gene: CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia (612370); CHARGE syndrome (214800)",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:16:46.500615+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene BMP4 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:16:46.459844+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BMP4 was added\ngene: BMP4 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BMP4 were set to 31120642, 24289245, 18252212, 35633847\nPhenotypes for gene: BMP4 were set to Microphthalmia, syndromic 6, MIM#607932",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:15:57.573510+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ARHGAP35 from panel Differences of Sex Development",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:15:57.524405+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ARHGAP35 was added\ngene: ARHGAP35 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARHGAP35 were set to PMID: 36178483\nPhenotypes for gene: ARHGAP35 were set to Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2025-12-11T10:15:39.294835+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene ANOS1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-11T10:15:39.259267+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ANOS1 was added\ngene: ANOS1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ANOS1 were set to 1594017; 8504298; 8989261\nPhenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700",
"entity_name": "ANOS1",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:43:55.368468+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.496",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: PRMT9 were changed from Neurodevelopmental disorder, MONDO:0100500, PRMT9-related to Neurodevelopmental disorder, MONDO:0700092, PRMT9-related",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:43:18.390423+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.495",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: PRMT9 were set to PMID: 38561334",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:43:04.032891+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.495",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: PRMT9 as Green List (high evidence)",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:43:04.022608+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.495",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: prmt9 has been classified as Green List (High Evidence).",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:40:48.685476+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.494",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Added reviews for gene PRMT9 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-10T11:40:08.792260+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.80",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene PRMT9 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-10T11:40:08.711115+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.80",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PRMT9 was added\ngene: PRMT9 was added to Hand and foot malformations. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRMT9 were set to 38561334; 41260215\nPhenotypes for gene: PRMT9 were set to Neurodevelopmental disorder, MONDO:0700092, PRMT9-related",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:40:06.880625+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.305",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene PRMT9 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-10T11:40:06.525335+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.305",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PRMT9 was added\ngene: PRMT9 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRMT9 were set to 38561334; 41260215\nPhenotypes for gene: PRMT9 were set to Neurodevelopmental disorder, MONDO:0700092, PRMT9-related",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:39:15.022817+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.510",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene PRMT9 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-10T11:39:14.759980+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.510",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PRMT9 was added\ngene: PRMT9 was added to Congenital Heart Defect. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRMT9 were set to 38561334; 41260215\nPhenotypes for gene: PRMT9 were set to Neurodevelopmental disorder, MONDO:0700092, PRMT9-related",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:37:16.080424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3765",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: PRMT9 were changed from Neurodevelopmental disorder, MONDO:0100500, PRMT9-related to Neurodevelopmental disorder, MONDO:0700092, PRMT9-related",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:36:23.427844+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3764",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: PRMT9 were set to PMID: 38561334",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:35:58.932666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3763",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: PRMT9 as Green List (high evidence)",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:35:58.922466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3763",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: prmt9 has been classified as Green List (High Evidence).",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:35:41.058408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3762",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PRMT9: Rating: GREEN; Mode of pathogenicity: None; Publications: 41260215; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PRMT9-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:10:28.101618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3762",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: From ClinGen:\r\n\r\nDefinitive for DOMINANT complex neurodevelopmental disorder MONDO:0100038, KCNQ3-related - 24 probands across 7 publications, mostly de novo variants. Mutations are clustered at p.Arg227 and p.Arg230, with a gain of function mechanism PMID: 24851285.\r\n\r\nModerate for DOMINANT self-limited familial neonatal epilepsy (Seizures, benign neonatal, 2 (MIM#121201)) - 15 missense in 18 probands across 16 publications. Variants clustered in the pore region (S5, S6, and intervening loop) and result in loss of function of channel activity PMID: 24851285. Note- there are several NMD predicted variants in this gene with over 10 hets in gnomad.\r\n\r\nLimited for RECESSIVE genetic developmental and epileptic encephalopathy MONDO:0100062, KCNQ3-related - 1 individual and 1 family from 2 publications with homozygous frameshifts PMID: 29852413; 31440727. All have seizures, various brain MRI findings, developmental delay and intellectual disability. The family had 3 similarly affected siblings, all homozygous for an NMD frameshift. The unrelated patient had a mildly affected uncle with learning difficulties and transient neonatal seizures, he was not tested for the variant. \r\n\r\nA third recessive patient not reported by ClinGen PMID: 29383681: 7yo girl with seizures, severe neurological impairment, and developmental delay. Compound heterozygous for two missense variants Val359Leu and Asp542Asn. Patch clamp studies showed that expression of either variant alone did not affect current density, but co-expression of both variants lead to a significant current reduction.; to: From ClinGen:\r\n\r\nDefinitive for DOMINANT complex neurodevelopmental disorder MONDO:0100038, KCNQ3-related - 24 probands across 7 publications, mostly de novo variants. Mutations are clustered at p.Arg227 and p.Arg230, with a gain of function mechanism PMID: 24851285.\r\n\r\nModerate for DOMINANT self-limited familial neonatal epilepsy (Seizures, benign neonatal, 2 (MIM#121201)) - 15 missense in 18 probands across 16 publications. Variants clustered in the pore region (S5, S6, and intervening loop) and result in loss of function of channel activity PMID: 24851285. Note- there are several NMD predicted variants in this gene with over 10 hets in gnomad.\r\n\r\nLimited for RECESSIVE genetic developmental and epileptic encephalopathy MONDO:0100062, KCNQ3-related - 1 individual and 1 family from 2 publications with homozygous frameshifts PMID: 29852413; 31440727. All have seizures, various brain MRI findings, developmental delay and intellectual disability. The family had 3 similarly affected siblings, all homozygous for an NMD frameshift. The unrelated patient had a mildly affected uncle with learning difficulties and transient neonatal seizures, he was not tested for the variant. \r\n\r\nA third recessive patient not reported by ClinGen PMID: 29383681: 7yo girl with seizures, severe neurological impairment, and developmental delay. Compound heterozygous for two missense variants Val359Leu and Asp542Asn. Patch clamp studies showed that expression of either variant alone did not affect current density, but co-expression of both variants lead to a significant current reduction.\r\n\r\nborderline amber/green for recessive",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:09:43.267223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3762",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:09:24.648579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3761",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: KCNQ3 were set to 33337327",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:09:06.837657+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3760",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ3 were changed from Seizures, benign neonatal, 2, MIM# 121201 to Complex neurodevelopmental disorder MONDO:0100038, KCNQ3-related; Seizures, benign neonatal, 2 MIM#121201; genetic developmental and epileptic encephalopathy MONDO:0100062, KCNQ3-related",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2025-12-10T11:08:46.324869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3759",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24851285, 29852413, 31440727; Phenotypes: Complex neurodevelopmental disorder MONDO:0100038, KCNQ3-related, Seizures, benign neonatal, 2 MIM#121201, genetic developmental and epileptic encephalopathy MONDO:0100062, KCNQ3-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:44:40.239081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#616721",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:44:25.165356+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC39A8: Changed phenotypes: Congenital disorder of glycosylation, type IIn , MIM#616721",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:44:01.696669+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#616721",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:43:34.510442+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC39A8: Changed phenotypes: Congenital disorder of glycosylation, type IIn , MIM#616721",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:43:13.864007+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#616721",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:42:36.980340+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC39A8: Changed phenotypes: Congenital disorder of glycosylation, type IIn , MIM#616721",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:41:50.374635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#616721",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:41:27.362618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC39A8: Changed phenotypes: Congenital disorder of glycosylation, type IIn , MIM#616721",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:41:10.156955+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#616721",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:40:32.864255+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC39A8: Changed phenotypes: Congenital disorder of glycosylation, type IIn , MIM#616721",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:37:04.532686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068 to Andermann syndrome; Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000; Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:28:25.341613+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:28:12.682251+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RSPRY1: Changed phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:27:57.775951+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:27:30.429697+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RSPRY1: Changed phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:27:17.192013+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:26:47.765140+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RSPRY1: Changed phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:26:29.996649+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:26:10.270698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RSPRY1: Changed phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:18:18.603548+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POPDC2 were changed from Heart conduction disease MONDO:0000992 to Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:18:04.141271+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POPDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:17:40.889477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POPDC2 were changed from Sinoatrial node disorder, MONDO:0000469, POPDC2-related to Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:17:23.976697+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POPDC2 were set to ",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:17:03.852496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POPDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:16:49.099025+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POPDC2 as ready",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:16:49.091090+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: popdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:16:46.359671+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POPDC2 were changed from Hypertrophic cardiomyopathy MONDO:0005045, POPDC2-related to Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-12-09T16:16:10.994472+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POPDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-12-09T12:50:53.473961+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.491",
"user_name": "Monica Petica",
"item_type": "entity",
"text": "changed review comment from: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.\r\nPMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form. \r\nPMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available. \r\nNot sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have a loss of function mechanism and variable expressivity.; to: Additional cases:\r\nPMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.\r\nPMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form. \r\nPMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available. \r\nNot sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have a loss of function mechanism and variable expressivity.",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2025-12-09T12:50:17.493756+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.491",
"user_name": "Monica Petica",
"item_type": "entity",
"text": "changed review comment from: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.\r\nPMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form. \r\nPMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available. \r\nNot sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have a loss of function mechanisms and variable expressivity.; to: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.\r\nPMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form. \r\nPMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available. \r\nNot sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have a loss of function mechanism and variable expressivity.",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2025-12-09T12:50:01.996177+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.491",
"user_name": "Monica Petica",
"item_type": "entity",
"text": "changed review comment from: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.\r\nPMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form. \r\nPMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available. \r\nNot sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have variable expressivity.; to: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.\r\nPMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form. \r\nPMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available. \r\nNot sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have a loss of function mechanisms and variable expressivity.",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2025-12-09T12:49:26.891182+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.491",
"user_name": "Monica Petica",
"item_type": "entity",
"text": "changed review comment from: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.\r\nPMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form. \r\nPMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available. \r\nNot sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel - first case). AD NDD/ID seems to have variable expressivity.; to: PMID: 38604781 - heterozygous and homozygous loss of function microdeletion encompassing the last 19 exons of CTNND2 in consanguineous family. Three siblings with homozygous deletion have severe NDD including absent speech, profound motor delay, stereotypical behaviour and other. Heterozygous carriers (sibling and parents) showed milder NDD phenotype similar to previously reported heterozygous cases.\r\nPMID: 25473103 - mother and daughter with borderline intelligence, learning problems and dyslexia carry balanced reciprocal translocations: t(1;8) (p22;q24) and t(5;18)(p15;q11). No genes were affected at breakpoints on chromosomes 1 and 8. The t(5;18) showed a breakpoint in intron 9 of CTNND2, while the chromosome 18 breakpoint was in a gene without morbid associations. The genes run in opposite directions and the fusion genes are predicted to cause loss of function. Third case with out of frame deletion exon 12-18 has mild intellectual disability, reading difficulties and facial features. The deletion is present in the mother in mosaic form. \r\nPMID: 31814264 – de novo 97kb duplication, containing exon 3 of CTNND2, which is out of frame and predicted to undergo NMD, and was shown to be in tandem. The individual has developmental delay, behavioural problems and dysmorphic features. Secondary deletion on 5q14.1 deemed not pathogenic as present in mother and sibling without matching features. No functional studies available. \r\nNot sure on biallelic/AR as single family with AR inheritance is consanguineous (although tested by exomes using ID gene panel). AD NDD/ID seems to have variable expressivity.",
"entity_name": "CTNND2",
"entity_type": "gene"
}
]
}