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{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=69",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=67",
"results": [
{
"created": "2026-01-04T18:29:50.486726+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXD13_SPD1_GCG was added\nSTR: HOXD13_SPD1_GCG was added to Hand and foot malformations. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXD13_SPD1_GCG.\nMode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119\nPhenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000",
"entity_name": "HOXD13_SPD1_GCG",
"entity_type": "str"
},
{
"created": "2026-01-04T18:29:48.481614+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.371",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:29:48.211709+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.371",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXA13_HFGS_GCN3 was added\nSTR: HOXA13_HFGS_GCN3 was added to Skeletal dysplasia. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.\nMode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000",
"entity_name": "HOXA13_HFGS_GCN3",
"entity_type": "str"
},
{
"created": "2026-01-04T18:29:10.868427+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:29:10.687304+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXA13_HFGS_GCN3 was added\nSTR: HOXA13_HFGS_GCN3 was added to Radial Ray Abnormalities. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.\nMode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000",
"entity_name": "HOXA13_HFGS_GCN3",
"entity_type": "str"
},
{
"created": "2026-01-04T18:28:31.424931+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.298",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:28:31.171683+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXA13_HFGS_GCN3 was added\nSTR: HOXA13_HFGS_GCN3 was added to Polydactyly. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.\nMode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000",
"entity_name": "HOXA13_HFGS_GCN3",
"entity_type": "str"
},
{
"created": "2026-01-04T18:27:52.314700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3948",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:27:51.687466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3948",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXA13_HFGS_GCN3 was added\nSTR: HOXA13_HFGS_GCN3 was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.\nMode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000",
"entity_name": "HOXA13_HFGS_GCN3",
"entity_type": "str"
},
{
"created": "2026-01-04T18:27:40.829747+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.501",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:27:40.614095+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.501",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXA13_HFGS_GCN3 was added\nSTR: HOXA13_HFGS_GCN3 was added to Fetal anomalies. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.\nMode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000",
"entity_name": "HOXA13_HFGS_GCN3",
"entity_type": "str"
},
{
"created": "2026-01-04T18:27:34.468100+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.32",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:27:34.328528+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXA13_HFGS_GCN3 was added\nSTR: HOXA13_HFGS_GCN3 was added to Differences of Sex Development. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.\nMode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000",
"entity_name": "HOXA13_HFGS_GCN3",
"entity_type": "str"
},
{
"created": "2026-01-04T18:26:57.368631+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:26:57.111121+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HOXA13_HFGS_GCN3 was added\nSTR: HOXA13_HFGS_GCN3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.\nMode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808\nPhenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000",
"entity_name": "HOXA13_HFGS_GCN3",
"entity_type": "str"
},
{
"created": "2026-01-04T18:18:00.316627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3947",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR GLS_GDPAG_GCA from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:17:59.240099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3947",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: GLS_GDPAG_GCA was added\nSTR: GLS_GDPAG_GCA was added to Mendeliome. Sources: Expert Review Green,Literature\npaediatric-onset tags were added to STR: GLS_GDPAG_GCA.\nMode of inheritance for STR: GLS_GDPAG_GCA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: GLS_GDPAG_GCA were set to 30970188\nPhenotypes for STR: GLS_GDPAG_GCA were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412",
"entity_name": "GLS_GDPAG_GCA",
"entity_type": "str"
},
{
"created": "2026-01-04T18:16:26.186853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3946",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR FXN_FRDA_GAA from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:16:25.096455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3946",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FXN_FRDA_GAA was added\nSTR: FXN_FRDA_GAA was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: FXN_FRDA_GAA.\nMode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: FXN_FRDA_GAA were set to 20301458; 8596916\nPhenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300",
"entity_name": "FXN_FRDA_GAA",
"entity_type": "str"
},
{
"created": "2026-01-04T18:16:12.961163+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.313",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR FXN_FRDA_GAA from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:16:12.808519+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FXN_FRDA_GAA was added\nSTR: FXN_FRDA_GAA was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: FXN_FRDA_GAA.\nMode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: FXN_FRDA_GAA were set to 20301458; 8596916\nPhenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300",
"entity_name": "FXN_FRDA_GAA",
"entity_type": "str"
},
{
"created": "2026-01-04T18:13:41.190565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3945",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR FOXL2_BPES_GCN from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:13:40.613788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3945",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FOXL2_BPES_GCN was added\nSTR: FOXL2_BPES_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list\npaediatric-onset tags were added to STR: FOXL2_BPES_GCN.\nMode of inheritance for STR: FOXL2_BPES_GCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for STR: FOXL2_BPES_GCN were set to 11468277; 33811808\nPhenotypes for STR: FOXL2_BPES_GCN were set to Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100; Premature ovarian failure 3 MIM#608996",
"entity_name": "FOXL2_BPES_GCN",
"entity_type": "str"
},
{
"created": "2026-01-04T18:02:17.366635+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR DMPK_DM1_CTG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T18:02:17.279395+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: DMPK_DM1_CTG was added\nSTR: DMPK_DM1_CTG was added to Skeletal Muscle Channelopathies. Sources: Expert Review Green,Expert list\nadult-onset, paediatric-onset tags were added to STR: DMPK_DM1_CTG.\nMode of inheritance for STR: DMPK_DM1_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: DMPK_DM1_CTG were set to 20301344; 29325606; 1546325\nPhenotypes for STR: DMPK_DM1_CTG were set to Myotonic dystrophy 1 MIM#160900",
"entity_name": "DMPK_DM1_CTG",
"entity_type": "str"
},
{
"created": "2026-01-04T17:59:07.508307+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.370",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR COMP_MEDPSACH_GAC from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T17:59:07.281005+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.370",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: COMP_MEDPSACH_GAC was added\nSTR: COMP_MEDPSACH_GAC was added to Skeletal dysplasia. Sources: Expert Review Green,Literature\npaediatric-onset tags were added to STR: COMP_MEDPSACH_GAC.\nMode of inheritance for STR: COMP_MEDPSACH_GAC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: COMP_MEDPSACH_GAC were set to 9887340; 17133256; 21922596\nPhenotypes for STR: COMP_MEDPSACH_GAC were set to Epiphyseal dysplasia, multiple, 1 MIM#132400; Pseudoachondroplasia MIM#177170",
"entity_name": "COMP_MEDPSACH_GAC",
"entity_type": "str"
},
{
"created": "2026-01-04T17:56:50.289796+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR CNBP_DM2_CCTG from panel Repeat Disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T17:56:50.193771+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: CNBP_DM2_CCTG was added\nSTR: CNBP_DM2_CCTG was added to Skeletal Muscle Channelopathies. Sources: Expert Review Green,Expert list\nadult-onset tags were added to STR: CNBP_DM2_CCTG.\nMode of inheritance for STR: CNBP_DM2_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088\nPhenotypes for STR: CNBP_DM2_CCTG were set to Myotonic dystrophy 2 MIM#602668",
"entity_name": "CNBP_DM2_CCTG",
"entity_type": "str"
},
{
"created": "2026-01-04T17:18:42.936964+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUPT5H as ready",
"entity_name": "SUPT5H",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:18:42.929607+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supt5h has been classified as Green List (High Evidence).",
"entity_name": "SUPT5H",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:18:36.851459+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUPT5H was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUPT5H",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:18:16.783947+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUPT5H: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUPT5H",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:17:59.338410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUPT5H was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUPT5H",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:17:42.106993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUPT5H: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUPT5H",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:17:17.839982+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SUPT5H from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T17:17:17.799213+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUPT5H was added\ngene: SUPT5H was added to Red cell disorders. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SUPT5H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SUPT5H were set to 40159794; 36945604; 36054783; 32589702\nPhenotypes for gene: SUPT5H were set to Erythrocyte disorder, MONDO:0044347, SUPT5H-related",
"entity_name": "SUPT5H",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:17:00.085292+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUPT5H as ready",
"entity_name": "SUPT5H",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:17:00.072361+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supt5h has been classified as Green List (High Evidence).",
"entity_name": "SUPT5H",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:16:51.521081+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUPT5H as Green List (high evidence)",
"entity_name": "SUPT5H",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:16:51.514305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supt5h has been classified as Green List (High Evidence).",
"entity_name": "SUPT5H",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:16:37.216747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUPT5H was added\ngene: SUPT5H was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SUPT5H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SUPT5H were set to 40159794; 36945604; 36054783; 32589702\nPhenotypes for gene: SUPT5H were set to Erythrocyte disorder, MONDO:0044347, SUPT5H-related\nReview for gene: SUPT5H was set to GREEN\nAdded comment: PMID 32589702, 36054783, 36945604, 37586368, 39902717 and 40159794 collectively report >40 unrelated families with heterozygous loss‑of‑function SUPT5H variants causing a β‑thalassemia‑trait‑like phenotype (elevated HbA2, mild microcytic anemia). Variants segregate in an autosomal‑dominant pattern, LOD > 3.5 in large pedigrees, and functional assays (RNA‑splicing defects, CRISPR‑edited HSPC models) demonstrate haploinsufficiency. \nSources: Literature",
"entity_name": "SUPT5H",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:09:53.267822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRMD4B as ready",
"entity_name": "FRMD4B",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:09:53.259727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd4b has been classified as Red List (Low Evidence).",
"entity_name": "FRMD4B",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:09:40.380780+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRMD4B was added\ngene: FRMD4B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FRMD4B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRMD4B were set to 40162949\nPhenotypes for gene: FRMD4B were set to Duane retraction syndrome, MONDO:0007473, FRMD4B-related\nReview for gene: FRMD4B was set to RED\nAdded comment: PMID 40162949 reports an individual with homozygous FRMD4B missense (c.380A>G, p.Lys127Arg) variant presenting with Duane retraction syndrome type III and syndromic features (hearing loss, developmental delay, atrial septal defect, gastrointestinal abnormalities). Zebrafish loss‑of‑function model recapitulates the cranial nerve phenotype, supporting a loss‑of‑function disease mechanism. \nSources: Literature",
"entity_name": "FRMD4B",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:04:48.728383+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRIM1 as ready",
"entity_name": "CRIM1",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:04:48.721590+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRIM1",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:04:25.795895+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene CRIM1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T17:04:25.602141+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRIM1 was added\ngene: CRIM1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: CRIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CRIM1 were set to 40114969; 33418956\nPhenotypes for gene: CRIM1 were set to Microphthalmia, MONDO:0021129, CRIM1-related",
"entity_name": "CRIM1",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:03:36.379927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRIM1 as ready",
"entity_name": "CRIM1",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:03:36.370218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRIM1",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:03:28.850718+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRIM1 as Amber List (moderate evidence)",
"entity_name": "CRIM1",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:03:28.840864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRIM1",
"entity_type": "gene"
},
{
"created": "2026-01-04T17:03:14.033983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRIM1 was added\ngene: CRIM1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CRIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CRIM1 were set to 40114969; 33418956\nPhenotypes for gene: CRIM1 were set to Microphthalmia, MONDO:0021129, CRIM1-related\nReview for gene: CRIM1 was set to AMBER\nAdded comment: PMID 33418956 reports 1 individual, and PMID 40114969 reports 3 individuals from 3 families, all with heterozygous loss‑of‑function CRIM1 variants causing colobomatous macropthalmia with microcornea (MACOM) in an autosomal dominant pattern. Segregation is demonstrated across multiple affected relatives, and mouse and zebrafish loss‑of‑function models recapitulate the ocular phenotype, supporting haploinsufficiency as the disease mechanism. However, three of the variants are deletions of various sizes and one of the variants is present in gnomAD. \nSources: Literature",
"entity_name": "CRIM1",
"entity_type": "gene"
},
{
"created": "2026-01-04T16:56:55.086426+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARMC2 as ready",
"entity_name": "ARMC2",
"entity_type": "gene"
},
{
"created": "2026-01-04T16:56:55.079306+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: armc2 has been classified as Green List (High Evidence).",
"entity_name": "ARMC2",
"entity_type": "gene"
},
{
"created": "2026-01-04T16:56:12.830912+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ARMC2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-04T16:56:12.716909+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARMC2 was added\ngene: ARMC2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ARMC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARMC2 were set to 40158138; 38492154; 35543806; 30686508\nPhenotypes for gene: ARMC2 were set to Spermatogenic failure 38, MIM#\t618433",
"entity_name": "ARMC2",
"entity_type": "gene"
},
{
"created": "2026-01-04T16:56:00.350988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARMC2 as ready",
"entity_name": "ARMC2",
"entity_type": "gene"
},
{
"created": "2026-01-04T16:56:00.341978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: armc2 has been classified as Green List (High Evidence).",
"entity_name": "ARMC2",
"entity_type": "gene"
},
{
"created": "2026-01-04T16:55:52.369907+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARMC2 as Green List (high evidence)",
"entity_name": "ARMC2",
"entity_type": "gene"
},
{
"created": "2026-01-04T16:55:52.358545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: armc2 has been classified as Green List (High Evidence).",
"entity_name": "ARMC2",
"entity_type": "gene"
},
{
"created": "2026-01-04T16:55:35.876951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARMC2 was added\ngene: ARMC2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARMC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARMC2 were set to 40158138; 38492154; 35543806; 30686508\nPhenotypes for gene: ARMC2 were set to Spermatogenic failure 38, MIM#\t618433\nReview for gene: ARMC2 was set to GREEN\nAdded comment: ARMC2 encodes an 867‑amino‑acid armadillo‑repeat protein highly expressed in testis and implicated in assembly and stability of the central pair complex of motile cilia and sperm flagella. Ten unrelated families (ten patients) with biallelic loss‑of‑function or predicted loss‑of‑function ARMC2 variants have been reported with multiple morphological abnormalities of the sperm flagella (MMAF) causing severe asthenoteratozoospermia and male infertility; one of these families also presented with primary ciliary dyskinesia pulmonary manifestations. Supportive mouse model. \nSources: Literature",
"entity_name": "ARMC2",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:50:18.606641+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMNB2 were set to 33033404",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:50:00.456750+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMNB2: Rating: RED; Mode of pathogenicity: None; Publications: 40011009; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:46:45.242584+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCSK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCSK1",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:42:34.864603+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOD1 as Green List (high evidence)",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:42:34.856375+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sod1 has been classified as Green List (High Evidence).",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:42:09.924987+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOD1 was added\ngene: SOD1 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOD1 were set to 39932579\nPhenotypes for gene: SOD1 were set to Hereditary peripheral neuropathy, MONDO:0020127, SOD1-related\nReview for gene: SOD1 was set to GREEN\nAdded comment: Multiple individuals reported with adult-onset, length-dependent, motor-dominant axonal neuropathy \nSources: Literature",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:34:58.623683+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHEB as ready",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:34:58.613838+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rheb has been classified as Green List (High Evidence).",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:34:55.986415+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHEB were changed from to Neurodevelopmental disorder MONDO:0700092, RHEB-related",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:34:28.572771+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHEB were set to ",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:33:58.234340+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RHEB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:33:34.864837+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RHEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337748, 29051493, 39993836; Phenotypes: Neurodevelopmental disorder MONDO:0700092, RHEB-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:32:36.241932+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHEB as ready",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:32:36.231518+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rheb has been classified as Green List (High Evidence).",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:24:13.474294+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.325",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene RHEB from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-02T17:24:13.177999+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RHEB was added\ngene: RHEB was added to Genetic Epilepsy. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: RHEB was set to Other\nPublications for gene: RHEB were set to 31337748; 29051493; 39993836\nPhenotypes for gene: RHEB were set to Neurodevelopmental disorder MONDO:0700092, RHEB-related; Intellectual disability; Macrocephaly; Focal cortical dysplasia",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:22:28.391784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHEB were set to 31337748; 29051493",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:22:00.242455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RHEB: Added comment: PMID 39993836 reports fourth individual with de novo variant c.71 T>C; p.Ile24Thr, ID and epilepsy.; Changed publications: 31337748, 29051493, 39993836",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:04:14.001401+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MACF1 were changed from Lissencephaly 9 with complex brainstem malformation, MIM#\t618325 to Lissencephaly 9 with complex brainstem malformation, MIM#\t618325; Congenital myasthenic syndrome, MONDO:0018940, MACF1-related",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:03:55.778646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MACF1 were set to 30471716",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:03:37.063796+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MACF1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:03:07.125079+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MACF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:02:50.104819+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MACF1: Added comment: PMIDs 37721175 and 30842214: 3 individuals reported with bi-allelic variants in this gene and a myasthenic phenotype, two congenital, one adult. Some functional data supports association.; Changed publications: 30471716, 37721175, 30842214; Changed phenotypes: Lissencephaly 9 with complex brainstem malformation, MIM# 618325, Congenital myasthenic syndrome, MONDO:0018940, MACF1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:02:09.710597+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MACF1 as ready",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:02:09.698216+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: macf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:01:52.517116+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MACF1 as Amber List (moderate evidence)",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:01:52.506074+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: macf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2026-01-02T17:01:42.737291+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MACF1 was added\ngene: MACF1 was added to Congenital Myasthenia. Sources: Literature\nMode of inheritance for gene: MACF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MACF1 were set to 37721175; 30842214\nPhenotypes for gene: MACF1 were set to Congenital myasthenic syndrome, MONDO:0018940, MACF1-related\nReview for gene: MACF1 was set to AMBER\nAdded comment: 3 individuals reported with bi-allelic variants in this gene and a myasthenic phenotype, two congenital, one adult. Some functional data supports association. \nSources: Literature",
"entity_name": "MACF1",
"entity_type": "gene"
},
{
"created": "2026-01-02T16:56:17.745998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIG4 were set to 11779494; 16088910; 15333585; 20133615",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2026-01-02T16:55:59.304759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2026-01-02T16:55:43.582013+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LIG4: Added comment: PMID 37004747: 2 variants (p.R580Q, p.A842D) in unrelated patients associated with a dominantly inherited\r\nfamilial immune-dysregulation consisting of autoimmune cytopenias, lymphoproliferation, agammaglobulinemia and adaptive immune cell infiltration into nonlymphoid organ. Reconstitution experiments and molecular dynamics simulations categorize both missense mutations as loss-of-function and haploinsufficient.; Changed publications: 11779494, 16088910, 15333585, 20133615, 37004747; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2026-01-02T16:51:24.249694+11:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KITLG were set to 19375057; 21368769",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2026-01-02T16:51:06.088016+11:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KITLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2026-01-02T16:50:35.323611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KITLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2026-01-02T15:16:39.812721+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for STR: ABCD3_OPDM_GCC were changed from Oculopharyngodistal myopathy MONDO:0025193 to Oculopharyngodistal myopathy 5, MIM# 621446",
"entity_name": "ABCD3_OPDM_GCC",
"entity_type": "str"
},
{
"created": "2026-01-02T15:16:32.251191+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for STR: ABCD3_OPDM_GCC were set to https://doi.org/10.1101/2023.10.09.23296582",
"entity_name": "ABCD3_OPDM_GCC",
"entity_type": "str"
},
{
"created": "2026-01-02T15:16:17.002894+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed STR: ABCD3_OPDM_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 5, MIM# 621446; Mode of inheritance: None",
"entity_name": "ABCD3_OPDM_GCC",
"entity_type": "str"
}
]
}