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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=27",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=25",
"results": [
{
"created": "2026-02-22T15:47:16.668599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4432",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZFHX2 was added\ngene: ZFHX2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZFHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZFHX2 were set to 29253101\nPhenotypes for gene: ZFHX2 were set to congenital insensitivity to pain syndrome, Marsili type MONDO:0958106\nReview for gene: ZFHX2 was set to RED\nAdded comment: A single family reported and a supporting mouse model. \nSources: Literature",
"entity_name": "ZFHX2",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:44:24.068741+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.111",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CFAP44 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-22T15:44:23.963405+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CFAP44 was added\ngene: CFAP44 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CFAP44 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP44 were set to 28552195; 29277146; 29449551\nPhenotypes for gene: CFAP44 were set to spermatogenic failure MONDO:0004983",
"entity_name": "CFAP44",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:44:04.868905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4431",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CFAP44 as Green List (high evidence)",
"entity_name": "CFAP44",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:44:04.858782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4431",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cfap44 has been classified as Green List (High Evidence).",
"entity_name": "CFAP44",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:43:47.062383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4430",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CFAP44 was added\ngene: CFAP44 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CFAP44 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP44 were set to 28552195; 29277146; 29449551\nPhenotypes for gene: CFAP44 were set to spermatogenic failure MONDO:0004983\nReview for gene: CFAP44 was set to GREEN\nAdded comment: At least 11 men reported with biallelic variants and a supporting mouse model. \nSources: Literature",
"entity_name": "CFAP44",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:39:02.065337+11:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CLPX from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-22T15:39:01.937356+11:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLPX was added\ngene: CLPX was added to Haem degradation and bilirubin metabolism defects. Sources: Literature\nMode of inheritance for gene: CLPX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLPX were set to 28874591; 25957689\nPhenotypes for gene: CLPX were set to protoporphyria, erythropoietic, 2 MONDO:0060729",
"entity_name": "CLPX",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:38:33.167620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4429",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLPX was added\ngene: CLPX was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CLPX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLPX were set to 28874591; 25957689\nPhenotypes for gene: CLPX were set to protoporphyria, erythropoietic, 2 MONDO:0060729\nReview for gene: CLPX was set to RED\nAdded comment: A single family reported and a supporting zebrafish model. \nSources: Literature",
"entity_name": "CLPX",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:32:16.737308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4428",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: AK7: Rating: RED; Mode of pathogenicity: None; Publications: 29365104; Phenotypes: spermatogenic failure MONDO:0004983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AK7",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:29:04.666266+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.110",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene AK9 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-22T15:29:04.560113+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AK9 was added\ngene: AK9 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: AK9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AK9 were set to 37713809\nPhenotypes for gene: AK9 were set to spermatogenic failure MONDO:0004983",
"entity_name": "AK9",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:28:51.831411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4428",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AK9 as Green List (high evidence)",
"entity_name": "AK9",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:28:51.824571+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4428",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ak9 has been classified as Green List (High Evidence).",
"entity_name": "AK9",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:28:27.340999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4427",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AK9 was added\ngene: AK9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AK9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AK9 were set to 37713809\nPhenotypes for gene: AK9 were set to spermatogenic failure MONDO:0004983\nReview for gene: AK9 was set to GREEN\nAdded comment: At least 5 unrelated men and a supporting mouse model. \nSources: Literature",
"entity_name": "AK9",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:26:01.761848+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.673",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene EXOC8 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-22T15:26:01.225256+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.673",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EXOC8 was added\ngene: EXOC8 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: EXOC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOC8 were set to 32103185; 22700954; 36344539; 35460391\nPhenotypes for gene: EXOC8 were set to neurodevelopmental disorder with microcephaly, seizures, and brain atrophy MONDO:0033662",
"entity_name": "EXOC8",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:24:26.164831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4426",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EXOC8 as Green List (high evidence)",
"entity_name": "EXOC8",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:24:26.157159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4426",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: exoc8 has been classified as Green List (High Evidence).",
"entity_name": "EXOC8",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:24:09.824154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4425",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EXOC8 was added\ngene: EXOC8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EXOC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOC8 were set to 32103185; 22700954; 36344539; 35460391\nPhenotypes for gene: EXOC8 were set to neurodevelopmental disorder with microcephaly, seizures, and brain atrophy MONDO:0033662\nReview for gene: EXOC8 was set to GREEN\nAdded comment: At least 4 families/cases with a neurodevelopmental phenotype. \nSources: Literature",
"entity_name": "EXOC8",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:11:36.107889+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4424",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TUBB6 was added\ngene: TUBB6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TUBB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB6 were set to 29016863\nPhenotypes for gene: TUBB6 were set to facial palsy, congenital, with ptosis and velopharyngeal dysfunction MONDO:0060589\nReview for gene: TUBB6 was set to RED\nAdded comment: A single family reported. \nSources: Literature",
"entity_name": "TUBB6",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:06:06.151407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4423",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EPS8L3 was added\ngene: EPS8L3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EPS8L3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EPS8L3 were set to 23099647\nPhenotypes for gene: EPS8L3 were set to Marie Unna hereditary hypotrichosis MONDO:0018631\nReview for gene: EPS8L3 was set to RED\nAdded comment: A single family reported. \nSources: Literature",
"entity_name": "EPS8L3",
"entity_type": "gene"
},
{
"created": "2026-02-22T15:00:32.636803+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene MIR2861 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-22T15:00:32.466951+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MIR2861 was added\ngene: MIR2861 was added to Osteogenesis Imperfecta and Osteoporosis. Sources: Literature\nMode of inheritance for gene: MIR2861 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: MIR2861 were set to 19920351\nPhenotypes for gene: MIR2861 were set to osteoporosis MONDO:0005298",
"entity_name": "MIR2861",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:58:44.883500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4422",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MIR2861 was added\ngene: MIR2861 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MIR2861 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: MIR2861 were set to 19920351\nPhenotypes for gene: MIR2861 were set to osteoporosis MONDO:0005298\nReview for gene: MIR2861 was set to RED\nAdded comment: A single family reported. \nSources: Literature",
"entity_name": "MIR2861",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:45:13.714165+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.235",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene AVIL from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-22T14:45:13.478931+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.235",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AVIL was added\ngene: AVIL was added to Proteinuria. Sources: Expert Review Green,Literature\nMode of inheritance for gene: AVIL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AVIL were set to 29058690\nPhenotypes for gene: AVIL were set to Nephrotic syndrome, type 21 MONDO:0032826",
"entity_name": "AVIL",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:43:02.292059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4421",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AVIL as Green List (high evidence)",
"entity_name": "AVIL",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:43:02.281219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4421",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: avil has been classified as Green List (High Evidence).",
"entity_name": "AVIL",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:42:46.194592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4420",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AVIL was added\ngene: AVIL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AVIL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AVIL were set to 29058690\nPhenotypes for gene: AVIL were set to Nephrotic syndrome, type 21 MONDO:0032826\nReview for gene: AVIL was set to GREEN\nAdded comment: 3 cases with 4 different variants and supporting in vitro functional assays demonstrating that the variants altered podocyte migration. \nSources: Literature",
"entity_name": "AVIL",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:26:55.901394+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SPACA1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-22T14:26:55.807036+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPACA1 was added\ngene: SPACA1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: SPACA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPACA1 were set to 34172998; 22949614\nPhenotypes for gene: SPACA1 were set to spermatogenic failure MONDO:0004983",
"entity_name": "SPACA1",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:26:32.861076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4419",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPACA1 was added\ngene: SPACA1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPACA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPACA1 were set to 34172998; 22949614\nPhenotypes for gene: SPACA1 were set to spermatogenic failure MONDO:0004983\nReview for gene: SPACA1 was set to RED\nAdded comment: A single family reported and a supporting mouse model. \nSources: Literature",
"entity_name": "SPACA1",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:20:40.433914+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4418",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCA5 was added\ngene: ABCA5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ABCA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCA5 were set to 24831815\nPhenotypes for gene: ABCA5 were set to gingival fibromatosis-hypertrichosis syndrome MONDO:0007610\nReview for gene: ABCA5 was set to RED\nAdded comment: A single case was reported, and a supporting mouse model \nSources: Literature",
"entity_name": "ABCA5",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:16:45.124901+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.429",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RNF43 from panel Colorectal Cancer and Polyposis",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-22T14:16:44.883716+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.429",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNF43 was added\ngene: RNF43 was added to Incidentalome. Sources: Expert Review Green,Literature,Expert Review,Expert list\nMode of inheritance for gene: RNF43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNF43 were set to PMID: 24512911, 34541672, 27329244, 27081527, 29330307\nPhenotypes for gene: RNF43 were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Sessile serrated polyposis cancer syndrome, MONDO:0014919; Sessile serrated polyposis cancer syndrome, MIM#617108",
"entity_name": "RNF43",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:14:43.861857+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4417",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TRIM44 as ready",
"entity_name": "TRIM44",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:14:43.854843+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4417",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: trim44 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM44",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:14:21.635790+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4417",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRIM44 was added\ngene: TRIM44 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRIM44 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIM44 were set to 26394807\nPhenotypes for gene: TRIM44 were set to Aniridia 3 MONDO:0014938\nReview for gene: TRIM44 was set to RED\nAdded comment: A single family reported \nSources: Literature",
"entity_name": "TRIM44",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:13:01.914018+11:00",
"panel_name": "Ichthyosis and Porokeratosis",
"panel_id": 124,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SLC17A9 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-22T14:13:01.456011+11:00",
"panel_name": "Ichthyosis and Porokeratosis",
"panel_id": 124,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC17A9 was added\ngene: SLC17A9 was added to Ichthyosis and Porokeratosis. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SLC17A9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC17A9 were set to 25180256; 25596766\nPhenotypes for gene: SLC17A9 were set to disseminated superficial actinic porokeratosis MONDO:0019212",
"entity_name": "SLC17A9",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:11:46.124065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4416",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC17A9 as ready",
"entity_name": "SLC17A9",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:11:46.113770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4416",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc17a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC17A9",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:11:37.298712+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4416",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC17A9 as Green List (high evidence)",
"entity_name": "SLC17A9",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:11:37.291866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4416",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc17a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC17A9",
"entity_type": "gene"
},
{
"created": "2026-02-22T14:11:22.215025+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4415",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC17A9 was added\ngene: SLC17A9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC17A9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC17A9 were set to 25180256; 25596766\nPhenotypes for gene: SLC17A9 were set to disseminated superficial actinic porokeratosis MONDO:0019212\nReview for gene: SLC17A9 was set to GREEN\nAdded comment: 3 families reported with evidence of segregation with disease. \nSources: Literature",
"entity_name": "SLC17A9",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:40:11.584369+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4414",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CENPT as ready",
"entity_name": "CENPT",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:40:11.573614+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4414",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cenpt has been classified as Red List (Low Evidence).",
"entity_name": "CENPT",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:40:00.168490+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4414",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CENPT was added\ngene: CENPT was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CENPT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CENPT were set to 29228025\nPhenotypes for gene: CENPT were set to short stature and microcephaly with genital anomalies MONDO:0032875\nReview for gene: CENPT was set to RED\nAdded comment: A single family reported, and a supporting zebrafish model. \nSources: Literature",
"entity_name": "CENPT",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:33:27.556700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4413",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BMS1 as ready",
"entity_name": "BMS1",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:33:27.545774+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4413",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bms1 has been classified as Red List (Low Evidence).",
"entity_name": "BMS1",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:33:16.204409+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4413",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BMS1 was added\ngene: BMS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BMS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMS1 were set to 23785305\nPhenotypes for gene: BMS1 were set to aplasia cutis congenita MONDO:0007145\nReview for gene: BMS1 was set to RED\nAdded comment: A single family reported. \nSources: Literature",
"entity_name": "BMS1",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:26:22.416241+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.108",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TTC21A from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-22T13:26:22.317121+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTC21A was added\ngene: TTC21A was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: TTC21A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC21A were set to 30929735\nPhenotypes for gene: TTC21A were set to spermatogenic failure MONDO:0004983",
"entity_name": "TTC21A",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:26:10.824903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4412",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TTC21A as ready",
"entity_name": "TTC21A",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:26:10.815039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4412",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttc21a has been classified as Green List (High Evidence).",
"entity_name": "TTC21A",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:25:23.341093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4412",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TTC21A as Green List (high evidence)",
"entity_name": "TTC21A",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:25:23.330890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4412",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttc21a has been classified as Green List (High Evidence).",
"entity_name": "TTC21A",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:25:08.030060+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4411",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTC21A was added\ngene: TTC21A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TTC21A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC21A were set to 30929735\nPhenotypes for gene: TTC21A were set to spermatogenic failure MONDO:0004983\nReview for gene: TTC21A was set to GREEN\nAdded comment: At least 3 men reported with biallelic variants and a supporting mouse model \nSources: Literature",
"entity_name": "TTC21A",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:22:16.914761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4410",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene DNAL4 from panel Mirror movements",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-22T13:22:15.969075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4410",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNAL4 was added\ngene: DNAL4 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: DNAL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAL4 were set to 25098561; 25236653\nPhenotypes for gene: DNAL4 were set to Mirror movements 3 MIM#616059",
"entity_name": "DNAL4",
"entity_type": "gene"
},
{
"created": "2026-02-22T13:21:12.494263+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.204",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene MAFA from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-22T13:21:12.393546+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.204",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAFA was added\ngene: MAFA was added to Monogenic Diabetes. Sources: Expert Review Green,Other\nMode of inheritance for gene: MAFA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAFA were set to 29339498\nPhenotypes for gene: MAFA were set to Insulinomatosis and diabetes mellitus, OMIM #:147630",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2026-02-21T19:52:32.089047+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSG2 as ready",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2026-02-21T19:52:32.077356+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsg2 has been classified as Green List (High Evidence).",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2026-02-21T19:52:26.032437+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSG2 were set to ",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2026-02-21T19:52:07.933064+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2026-02-21T19:51:33.157202+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene DSG2 from panel Arrhythmogenic Cardiomyopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T16:51:15.449457+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.107",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene MAATS1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T16:51:15.347589+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAATS1 was added\ngene: MAATS1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nnew gene name tags were added to gene: MAATS1.\nMode of inheritance for gene: MAATS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAATS1 were set to 32161152\nPhenotypes for gene: MAATS1 were set to spermatogenic failure MONDO:0004983",
"entity_name": "MAATS1",
"entity_type": "gene"
},
{
"created": "2026-02-21T16:50:53.206480+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4409",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MAATS1 as Green List (high evidence)",
"entity_name": "MAATS1",
"entity_type": "gene"
},
{
"created": "2026-02-21T16:50:53.199223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4409",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: maats1 has been classified as Green List (High Evidence).",
"entity_name": "MAATS1",
"entity_type": "gene"
},
{
"created": "2026-02-21T16:50:34.572611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4408",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAATS1 was added\ngene: MAATS1 was added to Mendeliome. Sources: Literature\nnew gene name tags were added to gene: MAATS1.\nMode of inheritance for gene: MAATS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAATS1 were set to 32161152\nPhenotypes for gene: MAATS1 were set to spermatogenic failure MONDO:0004983\nReview for gene: MAATS1 was set to GREEN\nAdded comment: 6 unrelated men of North African origin homozygous for 2 different variants and a supporting Trypanosoma brucei model. \nSources: Literature",
"entity_name": "MAATS1",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:54:40.801210+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CELA2A from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T15:54:40.704399+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CELA2A was added\ngene: CELA2A was added to Monogenic Diabetes. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CELA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELA2A were set to 31358993\nPhenotypes for gene: CELA2A were set to abdominal obesity-metabolic syndrome 4 MONDO:0032837",
"entity_name": "CELA2A",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:54:35.504158+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CELA2A from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T15:54:35.429820+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CELA2A was added\ngene: CELA2A was added to Dyslipidaemia. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CELA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELA2A were set to 31358993\nPhenotypes for gene: CELA2A were set to abdominal obesity-metabolic syndrome 4 MONDO:0032837",
"entity_name": "CELA2A",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:53:55.682150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4407",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CELA2A as Green List (high evidence)",
"entity_name": "CELA2A",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:53:55.661992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4407",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cela2a has been classified as Green List (High Evidence).",
"entity_name": "CELA2A",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:53:30.620298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4406",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CELA2A was added\ngene: CELA2A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CELA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELA2A were set to 31358993\nPhenotypes for gene: CELA2A were set to abdominal obesity-metabolic syndrome 4 MONDO:0032837\nReview for gene: CELA2A was set to GREEN\nAdded comment: 4 families/cases with a combination of the following features obesity, coronary artery disease, hypertriglyceridemia, hypertension, and type 2 diabetes. Segregation evidence in a large family and supporting in vitro fucntional studies. \nSources: Literature",
"entity_name": "CELA2A",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:39:18.479201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4405",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRIM36 was added\ngene: TRIM36 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRIM36 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM36 were set to 28087737\nPhenotypes for gene: TRIM36 were set to anencephaly MONDO:0000819\nReview for gene: TRIM36 was set to RED\nAdded comment: A single foetus was reported with a homozygous variant. \nSources: Literature",
"entity_name": "TRIM36",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:36:58.537484+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GREM2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T15:36:58.394443+11:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GREM2 was added\ngene: GREM2 was added to Oligodontia. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: GREM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GREM2 were set to 26416033; 28992378; 24686385\nPhenotypes for gene: GREM2 were set to Tooth agenesis, selective, 9 MONDO:0014999",
"entity_name": "GREM2",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:35:40.455468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4404",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GREM2 as Amber List (moderate evidence)",
"entity_name": "GREM2",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:35:40.428697+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4404",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: grem2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GREM2",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:35:21.889061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4403",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GREM2 was added\ngene: GREM2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GREM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GREM2 were set to 26416033; 28992378; 24686385\nPhenotypes for gene: GREM2 were set to Tooth agenesis, selective, 9 MONDO:0014999\nReview for gene: GREM2 was set to AMBER\nAdded comment: 3 missense variants reported in 8 cases. Incomplete penetrance and variable expressivity were demonstrated. Also, a supporting mouse model. \nSources: Literature",
"entity_name": "GREM2",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:23:01.710488+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.106",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ZPBP from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T15:23:01.645726+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZPBP was added\ngene: ZPBP was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ZPBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZPBP were set to 31985809; 17664285\nPhenotypes for gene: ZPBP were set to spermatogenic failure MONDO:0004983",
"entity_name": "ZPBP",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:22:42.210483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4402",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZPBP was added\ngene: ZPBP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZPBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZPBP were set to 31985809; 17664285\nPhenotypes for gene: ZPBP were set to spermatogenic failure MONDO:0004983\nReview for gene: ZPBP was set to RED\nAdded comment: A single male case reported with a homozygous variant, and a supporting mouse model. \nSources: Literature",
"entity_name": "ZPBP",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:17:41.466288+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.105",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NANOS1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T15:17:41.370387+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NANOS1 was added\ngene: NANOS1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NANOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NANOS1 were set to 23315541\nPhenotypes for gene: NANOS1 were set to spermatogenic failure MONDO:0004983",
"entity_name": "NANOS1",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:17:07.809260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4401",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NANOS1 as Amber List (moderate evidence)",
"entity_name": "NANOS1",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:17:07.799978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4401",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nanos1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NANOS1",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:16:51.833666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4400",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NANOS1 was added\ngene: NANOS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NANOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NANOS1 were set to 23315541\nPhenotypes for gene: NANOS1 were set to spermatogenic failure MONDO:0004983\nReview for gene: NANOS1 was set to AMBER\nAdded comment: 5 men with 3 different non-synonymous variants and incomplete segregation. 2 of the variants are inframe deletions in repeat regions. \nSources: Literature",
"entity_name": "NANOS1",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:02:18.310835+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.672",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ARHGEF2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T15:02:17.806266+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.672",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARHGEF2 was added\ngene: ARHGEF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ARHGEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARHGEF2 were set to 28453519\nPhenotypes for gene: ARHGEF2 were set to neurodevelopmental disorder with midbrain and hindbrain malformations MONDO:0056797",
"entity_name": "ARHGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-21T15:00:56.986971+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4399",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARHGEF2 was added\ngene: ARHGEF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARHGEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARHGEF2 were set to 28453519\nPhenotypes for gene: ARHGEF2 were set to neurodevelopmental disorder with midbrain and hindbrain malformations MONDO:0056797\nReview for gene: ARHGEF2 was set to RED\nAdded comment: A single family reported and a supporting mouse model. \nSources: Literature",
"entity_name": "ARHGEF2",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:49:25.269683+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.104",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TSGA10 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-21T14:49:25.188368+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSGA10 was added\ngene: TSGA10 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TSGA10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSGA10 were set to 28905369\nPhenotypes for gene: TSGA10 were set to spermatogenic failure MONDO:0004983",
"entity_name": "TSGA10",
"entity_type": "gene"
},
{
"created": "2026-02-21T14:49:10.052364+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4398",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSGA10 was added\ngene: TSGA10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TSGA10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSGA10 were set to 28905369\nPhenotypes for gene: TSGA10 were set to spermatogenic failure MONDO:0004983\nReview for gene: TSGA10 was set to RED\nAdded comment: A single case reported with a homozygous variant. \nSources: Literature",
"entity_name": "TSGA10",
"entity_type": "gene"
}
]
}