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{
"count": 220504,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=105",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=103",
"results": [
{
"created": "2025-12-03T18:16:11.914048+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FH were changed from to hereditary leiomyomatosis and renal cell cancer MONDO:0007888; fumaric aciduria MONDO:0011730",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:15:37.694647+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FH were set to ",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2025-12-03T18:15:03.887222+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2025-12-03T12:49:32.467632+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FASTKD5 were changed from Leigh syndrome MONDO:0009723, FASTKD5-related to Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-12-03T12:49:04.382284+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FASTKD5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-12-03T12:48:34.805024+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FASTKD5 were changed from Leigh syndrome MONDO:0009723, FASTKD5-related to Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-12-03T12:47:57.523019+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FASTKD5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-12-03T12:47:37.877295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FASTKD5 were changed from Leigh syndrome MONDO:0009723, FASTKD5-related to Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-12-03T12:47:17.234171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FASTKD5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431; Mode of inheritance: None",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-12-03T07:51:38.928545+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.148",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR THAP11_SCA51_CAG from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T07:51:38.738604+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: THAP11_SCA51_CAG was added\nSTR: THAP11_SCA51_CAG was added to Ataxia. Sources: Expert Review Amber,Literature\nMode of inheritance for STR: THAP11_SCA51_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: THAP11_SCA51_CAG were set to 15368101; 24677642; 34165550; 38113319; 40459937; 39651830; 37148549\nPhenotypes for STR: THAP11_SCA51_CAG were set to Spinocerebellar ataxia 51 MONDO:0975800",
"entity_name": "THAP11_SCA51_CAG",
"entity_type": "str"
},
{
"created": "2025-12-03T07:51:21.519591+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.147",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR ZFHX3_SCA4_GGC from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T07:51:21.356954+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ZFHX3_SCA4_GGC was added\nSTR: ZFHX3_SCA4_GGC was added to Ataxia. Sources: Expert Review Green,Literature\nMode of inheritance for STR: ZFHX3_SCA4_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ZFHX3_SCA4_GGC were set to 38035881; 38197134\nPhenotypes for STR: ZFHX3_SCA4_GGC were set to spinocerebellar ataxia type 4 MONDO:0010847",
"entity_name": "ZFHX3_SCA4_GGC",
"entity_type": "str"
},
{
"created": "2025-12-03T07:50:48.646309+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.146",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR TBP_SCA17_CAG from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T07:50:48.415629+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: TBP_SCA17_CAG was added\nSTR: TBP_SCA17_CAG was added to Ataxia. Sources: Expert Review Green,Expert list\nSTR tags were added to STR: TBP_SCA17_CAG.\nMode of inheritance for STR: TBP_SCA17_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: TBP_SCA17_CAG were set to 20301611; 29325606\nPhenotypes for STR: TBP_SCA17_CAG were set to Spinocerebellar ataxia 17 MIM#607136",
"entity_name": "TBP_SCA17_CAG",
"entity_type": "str"
},
{
"created": "2025-12-03T07:50:26.612170+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.145",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR RFC1_CANVAS_ANNGN from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T07:50:26.428207+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: RFC1_CANVAS_ANNGN was added\nSTR: RFC1_CANVAS_ANNGN was added to Ataxia. Sources: Expert Review Green,Expert list\nSTR tags were added to STR: RFC1_CANVAS_ANNGN.\nMode of inheritance for STR: RFC1_CANVAS_ANNGN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: RFC1_CANVAS_ANNGN were set to 30926972\nPhenotypes for STR: RFC1_CANVAS_ANNGN were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575",
"entity_name": "RFC1_CANVAS_ANNGN",
"entity_type": "str"
},
{
"created": "2025-12-03T07:50:09.695915+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.144",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR PRNP_CJD_octapeptide from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T07:50:09.544140+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.144",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PRNP_CJD_octapeptide was added\nSTR: PRNP_CJD_octapeptide was added to Ataxia. Sources: Expert Review Green,Literature\nMode of inheritance for STR: PRNP_CJD_octapeptide was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PRNP_CJD_octapeptide were set to 2159587; 20301407\nPhenotypes for STR: PRNP_CJD_octapeptide were set to Creutzfeldt-Jakob disease MIM#123400; Gerstmann-Straussler disease MIM#137440",
"entity_name": "PRNP_CJD_octapeptide",
"entity_type": "str"
},
{
"created": "2025-12-03T07:49:50.973175+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.143",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR PPP2R2B_SCA12_CAG from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T07:49:50.818162+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: PPP2R2B_SCA12_CAG was added\nSTR: PPP2R2B_SCA12_CAG was added to Ataxia. Sources: Expert Review Green,Expert list\nMode of inheritance for STR: PPP2R2B_SCA12_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: PPP2R2B_SCA12_CAG were set to 27864267; 33811808\nPhenotypes for STR: PPP2R2B_SCA12_CAG were set to Spinocerebellar ataxia 12 MIM#604326",
"entity_name": "PPP2R2B_SCA12_CAG",
"entity_type": "str"
},
{
"created": "2025-12-03T07:49:23.251901+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.142",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR NOP56_SCA36_GGCCTG from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T07:49:23.097935+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.142",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NOP56_SCA36_GGCCTG was added\nSTR: NOP56_SCA36_GGCCTG was added to Ataxia. Sources: Expert Review Green,Expert list\nSTR tags were added to STR: NOP56_SCA36_GGCCTG.\nMode of inheritance for STR: NOP56_SCA36_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NOP56_SCA36_GGCCTG were set to 21683323\nPhenotypes for STR: NOP56_SCA36_GGCCTG were set to Spinocerebellar ataxia 36 MIM#614153",
"entity_name": "NOP56_SCA36_GGCCTG",
"entity_type": "str"
},
{
"created": "2025-12-03T07:49:08.547999+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.142",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR FXN_FRDA_GAA from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T07:49:08.232881+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.142",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FXN_FRDA_GAA was added\nSTR: FXN_FRDA_GAA was added to Ataxia. Sources: Expert Review Green,Expert list\nSTR 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\nPhenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300",
"entity_name": "FXN_FRDA_GAA",
"entity_type": "str"
},
{
"created": "2025-12-03T07:48:37.107027+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.141",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR FMR1_FXTAS_CGG from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T07:48:36.921117+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FMR1_FXTAS_CGG was added\nSTR: FMR1_FXTAS_CGG was added to Ataxia. Sources: Expert Review Green,Expert list\nSTR tags were added to STR: FMR1_FXTAS_CGG.\nMode of inheritance for STR: FMR1_FXTAS_CGG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for STR: FMR1_FXTAS_CGG were set to 23765048; 25227148\nPhenotypes for STR: FMR1_FXTAS_CGG were set to Fragile X tremor/ataxia syndrome MIM#300623",
"entity_name": "FMR1_FXTAS_CGG",
"entity_type": "str"
},
{
"created": "2025-12-03T07:47:50.646588+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.140",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR FGF14_SCA27B_GAA from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T07:47:50.501267+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FGF14_SCA27B_GAA was added\nSTR: FGF14_SCA27B_GAA was added to Ataxia. Sources: Expert Review Green,Literature\nMode of inheritance for STR: FGF14_SCA27B_GAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: FGF14_SCA27B_GAA were set to 37165652; 36516086; 36493768\nPhenotypes for STR: FGF14_SCA27B_GAA were set to Spinocerebellar ataxia type 27B MONDO:0012247; Spinocerebellar ataxia 50; late-onset cerebellar ataxias (LOCAs)",
"entity_name": "FGF14_SCA27B_GAA",
"entity_type": "str"
},
{
"created": "2025-12-03T07:47:25.815147+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.139",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR DAB1_SCA37_ATTTC from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T07:47:25.620086+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: DAB1_SCA37_ATTTC was added\nSTR: DAB1_SCA37_ATTTC was added to Ataxia. Sources: Expert Review Green,Literature\nSTR tags were added to STR: DAB1_SCA37_ATTTC.\nMode of inheritance for STR: DAB1_SCA37_ATTTC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: DAB1_SCA37_ATTTC were set to 28686858; 31145571\nPhenotypes for STR: DAB1_SCA37_ATTTC were set to Spinocerebellar ataxia 37 MIM#615945",
"entity_name": "DAB1_SCA37_ATTTC",
"entity_type": "str"
},
{
"created": "2025-12-03T07:46:40.615503+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.138",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied STR CSTB_EPM1_CCCCGCCCCGCG from panel Ataxia - adult onset",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-03T07:46:40.439444+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: CSTB_EPM1_CCCCGCCCCGCG was added\nSTR: CSTB_EPM1_CCCCGCCCCGCG was added to Ataxia. Sources: Expert Review Green,Literature\nSTR tags were added to STR: CSTB_EPM1_CCCCGCCCCGCG.\nMode of inheritance for STR: CSTB_EPM1_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: CSTB_EPM1_CCCCGCCCCGCG were set to 29325606; 20301321\nPhenotypes for STR: CSTB_EPM1_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800",
"entity_name": "CSTB_EPM1_CCCCGCCCCGCG",
"entity_type": "str"
},
{
"created": "2025-12-02T17:21:58.944441+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL10A1 were set to 15880705; 31633898",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2025-12-02T17:21:44.172721+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL10A1: Changed publications: 15880705, 31633898, 31348255, 25542771",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2025-12-02T17:21:23.191201+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher), however please note that to date, no Gly-X-Y substitutions in the collagen triple helix repeats have yet been reported, pathogenic or otherwise.; to: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher).\r\n\r\nNote that unlike with other collagens, Gly-X-Y substitutions in the collagen triple helix repeats are very rarely reported as disease-causing, and may result in a milder phenotype (PMID 31348255; 25542771). These should be interpreted with caution.",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2025-12-02T17:19:52.155784+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher).\r\n\r\nNote that unlike with other collagens, Gly-X-Y substitutions in the collagen triple helix repeats are very rarely reported as disease-causing, and may result in a milder phenotype (PMID 31348255; 25542771). These should be interpreted with caution.; to: Note that unlike with other collagens, Gly-X-Y substitutions in the collagen triple helix repeats are very rarely reported as disease-causing, and may result in a milder phenotype (PMID 31348255; 25542771). These should be interpreted with caution.",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2025-12-02T17:19:21.287741+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher), however please note that to date, no Gly-X-Y substitutions in the collagen triple helix repeats have yet been reported, pathogenic or otherwise.; to: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher).\r\n\r\nNote that unlike with other collagens, Gly-X-Y substitutions in the collagen triple helix repeats are very rarely reported as disease-causing, and may result in a milder phenotype (PMID 31348255; 25542771). These should be interpreted with caution.",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2025-12-02T17:18:55.154662+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: COL10A1: Changed publications: 15880705, 31633898, 31348255, 25542771",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2025-12-02T17:17:21.750988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL10A1 were set to 15880705; 31633898",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2025-12-02T17:17:02.171704+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL10A1: Changed publications: 15880705, 31633898, 31348255, 25542771",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2025-12-02T17:16:52.758084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher), however please note that to date, no Gly-X-Y substitutions in the collagen triple helix repeats have yet been reported, pathogenic or otherwise.; to: Note: Gene reviews also notes severe lethal phenotypes in recessive inheritance where parents were only mildly affected, however only 2 unrelated families reported to date (PMID: 31633898). Both haploinsufficiency and dominant-negative mechanisms have been suggested to cause disease (OMIM, PMID: 15880705, PMID: 31633898). “Pathogenic variants in COL10A1 are clustered in the C-terminal non-collagenous (NC1) domain, which contains motifs required for normal assembly of the collagen trimer. Both missense and truncating (frameshift and nonsense) variants in COL10A1 cause collagen X protein misfolding during protein synthesis, resulting in a failure of trimerization and aggregation within the endoplasmic reticulum (ER) of hypertrophic chondrocytes. Resultant ER stress, activation of the unfolded protein response, and reduced levels of functional type X collagen in the growth plate cause chondrodysplasia and development of the SMCD phenotype [Rajpar et al 2009].” -> from Gene Reviews (PMID: 31633898). Some pathogenic missense also reported in the N-terminal signal peptide (Decipher).\r\n\r\nNote that unlike with other collagens, Gly-X-Y substitutions in the collagen triple helix repeats are very rarely reported as disease-causing, and may result in a milder phenotype (PMID 31348255; 25542771). These should be interpreted with caution.",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:41:18.163967+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBXAS1 as ready",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:41:18.155526+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbxas1 has been classified as Green List (High Evidence).",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:40:50.960102+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTDSS1 as ready",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:40:50.952457+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptdss1 has been classified as Green List (High Evidence).",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:40:30.464796+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MITF as ready",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:40:30.451338+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mitf has been classified as Green List (High Evidence).",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:40:12.594128+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRRK1 as ready",
"entity_name": "LRRK1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:40:12.583989+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrrk1 has been classified as Green List (High Evidence).",
"entity_name": "LRRK1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:39:35.833092+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TBXAS1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-02T16:39:35.690671+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBXAS1 was added\ngene: TBXAS1 was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBXAS1 were set to 18264100; 27156553; 28868793; 33244729; 33595912; 36786374; 39220787; 39277773\nPhenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM# 231095",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:38:36.291128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBXAS1 were set to ",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:38:18.043211+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBXAS1: Added comment: PMID 27156553, 28868793, 33244729, 33595912, 36786374, 39220787 and 39277773 together report 10 individuals from 8 unrelated families with biallelic loss‑of‑function variants in TBXAS1. Clinical features include anemia/pancytopenia, thrombocytopenia, bone‑marrow fibrosis, splenomegaly and markedly increased diaphyseal bone density, often responding to steroids.; Changed publications: 18264100, 27156553, 28868793, 33244729, 33595912, 36786374, 39220787, 39277773",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:35:54.624942+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCE as ready",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:35:54.617297+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:35:51.021348+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBCE were set to ",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:35:28.564445+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBCE as Green List (high evidence)",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:35:28.552828+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:34:57.439292+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBCE: Changed publications: 26029652, 39911167, 40369764; Changed phenotypes: Kenny-Caffey syndrome, type 1, MIM# 244460",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:34:42.654304+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBCE was added\ngene: TBCE was added to Osteopetrosis. Sources: Literature\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBCE were set to Kenny-Caffey syndrome, type 1, MIM#\t244460\nReview for gene: TBCE was set to GREEN\nAdded comment: Established gene-disease association. Condition is characterised by short stature, osteosclerosis with medullary stenosis of the long bones, episodic hypocalcemia, and ocular abnormalities. \nSources: Literature",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:31:33.493396+11:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.138",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "changed review comment from: New literature identifies 8 yo male child presenting with mild dysmorphic features, delayed speech, relative microcephaly, and overweight, all considered familial phenotypic traits. \r\nLaboratory findings revealed mildly elevated plasma branched-chain amino acids, mild lactic acidemia, and a slight increase in urinary keto acids. Testing identified homozygous missense variant in PPM1K - c.925A>G p.(Ile309Val). No functional studies conducted. In silico predicts residual to have destabilising impact on protein.\r\n3 individuals now reported in literature with mild findings related to MSUD BCAA levels. Adequate evidence to include in panel?; to: New literature identifies 8 yo male child presenting with mild dysmorphic features, delayed speech, relative microcephaly, and overweight, all considered familial phenotypic traits. \r\nLaboratory findings revealed mildly elevated plasma branched-chain amino acids, mild lactic acidemia, and a slight increase in urinary keto acids. Testing identified homozygous missense variant in PPM1K - c.925A>G p.(Ile309Val). No functional studies conducted. In silico predicts AA substitution to have destabilising impact on protein.\r\n3 individuals now reported in literature with mild findings related to MSUD BCAA levels. Adequate evidence to include in panel?",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:30:15.826733+11:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.138",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: PPM1K: Rating: AMBER; Mode of pathogenicity: None; Publications: 36706222, 23086801, 40047138; Phenotypes: Maple syrup urine disease, mild variant, MIM#615135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPM1K",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:27:30.864972+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene PTDSS1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-02T16:27:30.737337+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTDSS1 was added\ngene: PTDSS1 was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTDSS1 were set to 24241535; 29341480; 31403251\nPhenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism MIM#151050",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:26:14.157983+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MITF from panel Anophthalmia_Microphthalmia_Coloboma",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-02T16:26:14.019333+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MITF was added\ngene: MITF was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: MITF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MITF were set to 27889061; 32541011\nPhenotypes for gene: MITF were set to COMMAD syndrome, MIM# 617306",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:25:18.334318+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene LRRK1 from panel Skeletal dysplasia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-02T16:25:18.181029+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRRK1 was added\ngene: LRRK1 was added to Osteopetrosis. Sources: Expert Review Green,Expert Review\nMode of inheritance for gene: LRRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRK1 were set to 27829680; 27055475; 31571209; 32119750\nPhenotypes for gene: LRRK1 were set to Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)",
"entity_name": "LRRK1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:22:17.439864+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRP4 as ready",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:22:17.430901+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp4 has been classified as Green List (High Evidence).",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:22:13.087313+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRP4 as Green List (high evidence)",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:22:13.077927+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp4 has been classified as Green List (High Evidence).",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:21:45.624041+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP4 was added\ngene: LRP4 was added to Osteopetrosis. Sources: Literature\nMode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRP4 were set to 32286743; 35052419; 40824295\nPhenotypes for gene: LRP4 were set to Sclerosteosis 2, MIM#\t614305\nReview for gene: LRP4 was set to GREEN\nAdded comment: PMIDs 32286743, 35052419 and 40824295 report 3 individuals from 3 unrelated families with autosomal recessive loss‑of‑function LRP4 variants causing sclerosteosis (high bone mass, cranial hyperostosis, facial dysmorphism, syndactyly, hearing loss). Functional data include a mouse Lrp4 knock‑in model recapitulating the high bone‑mass phenotype. \nSources: Literature",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:19:10.164688+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DVL1 as ready",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:19:10.156049+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dvl1 has been classified as Green List (High Evidence).",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:19:05.641217+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DVL1 as Green List (high evidence)",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:19:05.632551+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dvl1 has been classified as Green List (High Evidence).",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:18:34.221908+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DVL1 was added\ngene: DVL1 was added to Osteopetrosis. Sources: Literature\nMode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DVL1 were set to 25817014\nPhenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2, MIM#\t616331\nReview for gene: DVL1 was set to GREEN\nAdded comment: Well established gene-disease association. Osteosclerosis/high bone mineral density are part of the phenotype. \nSources: Literature",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:12:54.349947+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF1R as ready",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:12:54.339504+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf1r has been classified as Green List (High Evidence).",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:12:45.067746+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AXIN1 as ready",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:12:45.030734+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Green List (High Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:12:40.434786+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:12:23.588825+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene CSF1R from panel Brain Calcification",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-02T16:12:23.420094+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSF1R was added\ngene: CSF1R was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSF1R were set to 30982609; 33749994; 34135456\nPhenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS",
"entity_name": "CSF1R",
"entity_type": "gene"
},
{
"created": "2025-12-02T16:10:29.945777+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene AXIN1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-02T16:10:29.564519+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AXIN1 was added\ngene: AXIN1 was added to Osteopetrosis. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AXIN1 were set to 9335612; 37582359\nPhenotypes for gene: AXIN1 were set to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2025-12-02T15:42:33.855361+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 MIM#231050 to Geleophysic dysplasia 1 MIM#231050; Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-12-02T15:42:07.835820+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAMTSL2 were set to 33369194; 26879370; 21415077",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-12-02T15:41:30.376798+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADAMTSL2: Added comment: PMID 36896612: 12 individuals reported with the severe end of the spectrum of ADAMTSL2-related skeletal dysplasia. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly.; Changed publications: 33369194, 26879370, 21415077, 36896612; Changed phenotypes: Geleophysic dysplasia 1, MIM# 231050, Dermatosparaxic Ehlers Danlos syndrome, Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-12-02T15:40:05.334653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1, MIM# 231050; Dermatosparaxic Ehlers Danlos syndrome to Geleophysic dysplasia 1, MIM# 231050; Dermatosparaxic Ehlers Danlos syndrome; Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-12-02T15:39:43.421603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADAMTSL2: Added comment: PMID 36896612: 12 individuals reported with the severe end of the spectrum of ADAMTSL2-related skeletal dysplasia. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly.; Changed publications: 33369194, 26879370, 21415077, 36896612; Changed phenotypes: Geleophysic dysplasia 1, MIM# 231050, Dermatosparaxic Ehlers Danlos syndrome, Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-12-02T15:38:37.271931+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1-MIM#231050 to Geleophysic dysplasia 1-MIM#231050; Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-12-02T15:38:11.876769+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAMTSL2 were set to 20301776; 21415077",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-12-02T15:37:44.918428+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36896612; Phenotypes: Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-12-02T15:37:02.902999+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTSL2 as ready",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-12-02T15:37:02.890251+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl2 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-12-02T15:36:59.923602+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTSL2 as Green List (high evidence)",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2025-12-02T15:36:59.916841+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl2 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
}
]
}