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"count": 220498,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=101",
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"results": [
{
"created": "2025-12-05T15:46:08.648035+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.374",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37396-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:46:08.436306+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.374",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37396-Loss was added\nRegion: ISCA-37396-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37396-Loss.\nMode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321; 22359776\nPhenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, MIM#613406; intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive",
"entity_name": "ISCA-37396-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:45:28.617220+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.482",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37396-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:45:28.220401+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.482",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37396-Loss was added\nRegion: ISCA-37396-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37396-Loss.\nMode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321; 22359776\nPhenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, MIM#613406; intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive",
"entity_name": "ISCA-37396-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:42:14.477277+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.481",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37394-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:42:14.094932+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.481",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37394-Loss was added\nRegion: ISCA-37394-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37394-Loss.\nMode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37394-Loss were set to 20691407\nPhenotypes for Region: ISCA-37394-Loss were set to Chromosome 2q37 deletion syndrome, MIM#\t600430; brachydactyly; intellectual disability",
"entity_name": "ISCA-37394-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:41:30.963649+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.79",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37394-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:41:30.877595+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.79",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37394-Loss was added\nRegion: ISCA-37394-Loss was added to Hand and foot malformations. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37394-Loss.\nMode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37394-Loss were set to 20691407\nPhenotypes for Region: ISCA-37394-Loss were set to Chromosome 2q37 deletion syndrome, MIM#\t600430; brachydactyly; intellectual disability",
"entity_name": "ISCA-37394-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:41:27.896492+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.480",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:41:27.546572+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.480",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37393-Gain was added\nRegion: ISCA-37393-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37393-Gain.\nMode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM#\t115470; coloboma; anal atresia; heart and renal malformations",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2025-12-05T15:40:47.408665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.479",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:40:46.884757+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.479",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37393-Gain was added\nRegion: ISCA-37393-Gain was added to Fetal anomalies. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37393-Gain.\nMode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM#\t115470; coloboma; anal atresia; heart and renal malformations",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2025-12-05T15:40:40.640023+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.300",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:40:40.391295+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.300",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37393-Gain was added\nRegion: ISCA-37393-Gain was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37393-Gain.\nMode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM#\t115470; coloboma; anal atresia; heart and renal malformations",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2025-12-05T15:40:01.842458+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.508",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:40:01.446695+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.508",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37393-Gain was added\nRegion: ISCA-37393-Gain was added to Congenital Heart Defect. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37393-Gain.\nMode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM#\t115470; coloboma; anal atresia; heart and renal malformations",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2025-12-05T15:39:23.677106+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.293",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:39:23.597420+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.293",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37393-Gain was added\nRegion: ISCA-37393-Gain was added to Clefting disorders. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37393-Gain.\nMode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM#\t115470; coloboma; anal atresia; heart and renal malformations",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2025-12-05T15:39:23.065790+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.53",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:39:22.909557+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.53",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37393-Gain was added\nRegion: ISCA-37393-Gain was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37393-Gain.\nMode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM#\t115470; coloboma; anal atresia; heart and renal malformations",
"entity_name": "ISCA-37393-Gain",
"entity_type": "region"
},
{
"created": "2025-12-05T15:36:38.718745+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.479",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37392-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:36:38.313527+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.479",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37392-Loss was added\nRegion: ISCA-37392-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37392-Loss.\nMode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37392-Loss were set to 20301427\nPhenotypes for Region: ISCA-37392-Loss were set to Williams-Beuren syndrome, MIM#\t194050; intellectual disability; growth retardation; cardiovascular disease",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:35:55.632868+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.85",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37392-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:35:55.560126+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.85",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37392-Loss was added\nRegion: ISCA-37392-Loss was added to Growth failure. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37392-Loss.\nMode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37392-Loss were set to 20301427\nPhenotypes for Region: ISCA-37392-Loss were set to Williams-Beuren syndrome, MIM#\t194050; intellectual disability; growth retardation; cardiovascular disease",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:35:55.161700+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.507",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37392-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:35:54.982770+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.507",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37392-Loss was added\nRegion: ISCA-37392-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37392-Loss.\nMode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37392-Loss were set to 20301427\nPhenotypes for Region: ISCA-37392-Loss were set to Williams-Beuren syndrome, MIM#\t194050; intellectual disability; growth retardation; cardiovascular disease",
"entity_name": "ISCA-37392-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:34:58.214541+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.478",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37392-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:34:57.826566+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.478",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37392-Gain was added\nRegion: ISCA-37392-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37392-Gain.\nMode of inheritance for Region: ISCA-37392-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37392-Gain were set to 33187326; 27615053; 26610320\nPhenotypes for Region: ISCA-37392-Gain were set to Chromosome 7q11.23 duplication syndrome, MIM#\t609757; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation",
"entity_name": "ISCA-37392-Gain",
"entity_type": "region"
},
{
"created": "2025-12-05T15:34:21.449235+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.373",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37390-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:34:21.282457+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.373",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37390-Loss was added\nRegion: ISCA-37390-Loss was added to Microcephaly. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37390-Loss.\nMode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37390-Loss were set to 16953888\nPhenotypes for Region: ISCA-37390-Loss were set to Cri-du-chat syndrome MIM#123450; intellectual disability; microcephaly",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T15:33:36.489357+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.478",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37390-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T15:33:35.959761+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.478",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37390-Loss was added\nRegion: ISCA-37390-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert Review\nSV/CNV tags were added to Region: ISCA-37390-Loss.\nMode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37390-Loss were set to 16953888\nPhenotypes for Region: ISCA-37390-Loss were set to Cri-du-chat syndrome MIM#123450; intellectual disability; microcephaly",
"entity_name": "ISCA-37390-Loss",
"entity_type": "region"
},
{
"created": "2025-12-05T13:26:37.913875+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VCP as ready",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:26:37.906417+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcp has been classified as Green List (High Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:26:35.168723+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VCP were set to 29884839; 35273561; 37678339",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:25:51.229901+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:24:40.334992+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1127",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene VCP from panel Early-onset Dementia",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T13:22:36.013450+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM126A as ready",
"entity_name": "TMEM126A",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:22:36.002810+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem126a has been classified as Green List (High Evidence).",
"entity_name": "TMEM126A",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:22:32.374716+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM126A were set to 29884839; 33879611",
"entity_name": "TMEM126A",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:21:35.740599+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Association with OA: More than 5 unrelated families reported, functional data. Only a single family reported with deafness in addition to OA.; to: Association with OA: More than 5 unrelated families reported, functional data. Only a single family reported with deafness in addition to OA.\r\n\r\nTMEM126A is a Complex I assembly factor.",
"entity_name": "TMEM126A",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:15:27.738869+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1125",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene TMEM126A from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T13:11:26.335144+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RMRP as ready",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:11:26.324505+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rmrp has been classified as Green List (High Evidence).",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:11:23.196453+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RMRP were set to 29884839; 38337186",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:10:39.963322+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 60 pathogenic RMRP variants have been reported resulting in CHH phenotypes; multiple mouse models \r\n\r\nHomozygous and Compound heterozygous (insertions, duplications and missense) variants have been reported resulting in loss of function. \r\n*Founder variant g.70A>G (Amish and Finnish populations)\r\n\r\nCHH individuals present with variable features that may include: shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities and a spectrum of combined immunodeficiency.\r\n\r\nAnauxetic dysplasia 1, MIM# 607095 is a more severe phenotype, whereas Metaphyseal dysplasia without hypotrichosis, MIM# 250460 is milder.\r\n; to: Over 60 pathogenic RMRP variants have been reported resulting in CHH phenotypes; multiple mouse models \r\n\r\nHomozygous and Compound heterozygous (insertions, duplications and missense) variants have been reported resulting in loss of function. \r\n*Founder variant g.70A>G (Amish and Finnish populations)\r\n\r\nCHH individuals present with variable features that may include: shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities and a spectrum of combined immunodeficiency.\r\n\r\nAnauxetic dysplasia 1, MIM# 607095 is a more severe phenotype, whereas Metaphyseal dysplasia without hypotrichosis, MIM# 250460 is milder.\r\n\r\nGene encodes RNA component of mitochondrial RNA processing endoribonuclease\r\n",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:10:22.517390+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1123",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene RMRP from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T13:08:35.138127+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTRH2 as ready",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:08:35.130301+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptrh2 has been classified as Green List (High Evidence).",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:08:24.163685+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTRH2 were set to 29884839; 37239392",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:07:41.306076+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy.\r\n\r\nMore than 5 unrelated families reported. The Q85P missense variant is reported in several families, likely founder effect.; to: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy.\r\n\r\nMore than 5 unrelated families reported. The Q85P missense variant is reported in several families, likely founder effect.\r\n\r\nProtein is involved in mitochondrial translation.",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:06:57.028282+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene PTRH2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T13:04:55.517754+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKN as ready",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:04:55.507637+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkn has been classified as Green List (High Evidence).",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:04:48.017315+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Parkin regulates the clearance of dysfunctional mitochondria.; to: Well established gene-disease association.\r\n\r\nParkin regulates the clearance of dysfunctional mitochondria.",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:04:33.035303+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRKN: Changed publications: 20837857",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:03:25.420889+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRKN: Changed phenotypes: Parkinson disease, juvenile, type 2, MIM# 600116; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2025-12-05T13:02:28.193681+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:59:56.926675+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAM16 as ready",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:59:56.919285+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pam16 has been classified as Green List (High Evidence).",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:59:53.723586+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAM16 were set to 29884839; 24786642; 35385740; 36438081",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:59:10.086388+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:58:16.001414+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene PAM16 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T12:56:18.070578+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GPD1: Changed phenotypes: Hypertriglyceridemia, transient infantile MIM#614480",
"entity_name": "GPD1",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:55:54.101618+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPD1 as ready",
"entity_name": "GPD1",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:55:54.094128+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpd1 has been classified as Green List (High Evidence).",
"entity_name": "GPD1",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:55:44.522412+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: GPD1 is a cytosolic enzyme that works with the mitochondrial GPD2 enzyme to form the glycerol 3-phosphate shuttle, which transports reducing equivalents (NADH) into the mitochondria.; to: GPD1 is a cytosolic enzyme that works with the mitochondrial GPD2 enzyme to form the glycerol 3-phosphate shuttle, which transports reducing equivalents (NADH) into the mitochondria.\r\n\r\nBi-allelic variants cause transient infantile hypertriglyceridemia which is characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis.\r\n\r\nMore than 5 unrelated families reported.",
"entity_name": "GPD1",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:54:48.653451+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GPD1: Changed publications: 22226083, 24549054, 35365473, 34484308, 33447932",
"entity_name": "GPD1",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:54:27.325552+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPD1",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:52:30.898075+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: L2HGDH as ready",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:52:30.890665+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l2hgdh has been classified as Green List (High Evidence).",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:52:28.660559+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: L2HGDH were changed from Disorders of mitochondrial metabolite repair; L-2-hydroxyglutaric aciduria MONDO:0009370 to L-2-hydroxyglutaric aciduria, MIM#236792",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:51:56.364734+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: L2HGDH were set to 29884839; 37995940",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:01:44.277100+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: L2HGDH: Changed phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2025-12-05T12:01:31.368127+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 37113859, 34270333, 17475916, 28137912, 15385440; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:58:19.290046+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPA9 as ready",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:58:19.282817+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspa9 has been classified as Green List (High Evidence).",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:58:16.365300+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPA9 were changed from even-plus syndrome MONDO:0014801; Disorders of mitochondrial protein quality control to Anaemia, sideroblastic, 4, MIM# 182170; Even-plus syndrome, MIM# 616854",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:57:22.044014+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSPA9 were set to 29884839; 21123823; 26598328",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:56:37.878237+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSPA9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:56:03.422956+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: HSPA9 is a mitochondrial chaperone. Well established association with sideroblastic anaemia and Even-plus syndrome which is characterised by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis.; to: HSPA9 is a mitochondrial chaperone. Established association between mono-allelic variants and sideroblastic anaemia and between biallelic variants and Even-plus syndrome. The latter is characterised by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis.",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:55:18.987042+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HSPA9: Changed publications: 26491070, 39196378, 36094340, 38284453, 38281662, 35779070",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:52:59.474592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HSPA9: Added comment: PMID 39196378: another three individuals reported albeit with little supportive data.; Changed rating: GREEN; Changed publications: 26491070, 39196378",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:50:03.958316+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anaemia, sideroblastic, 4, MIM# 182170, Even-plus syndrome, MIM# 616854; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:44:44.384195+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIFM1 as ready",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:44:44.373184+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aifm1 has been classified as Green List (High Evidence).",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:44:32.807569+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIFM1 were changed from to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:43:51.804421+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:42:27.545630+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene AGK from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-05T11:40:52.377214+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGK as ready",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:40:52.370232+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agk has been classified as Green List (High Evidence).",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:40:49.936831+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGK were changed from Sengers syndrome, MIM#212350 to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:40:11.908327+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGK were set to 22415731; 25208612; 22415731; 25208612",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:39:36.928541+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: 37354892; Phenotypes: Sengers syndrome, MIM#212350, Cataract 38 MIM#614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:32:11.099649+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ND4 as ready",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:32:11.092643+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd4 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:31:54.567435+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ND4 as ready",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:31:54.560199+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd4 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:31:42.170064+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-ND4 as ready",
"entity_name": "MT-ND4",
"entity_type": "gene"
},
{
"created": "2025-12-05T11:31:42.157345+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-nd4 has been classified as Green List (High Evidence).",
"entity_name": "MT-ND4",
"entity_type": "gene"
}
]
}