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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2",
"previous": null,
"results": [
{
"created": "2026-04-04T15:38:16.138664+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DLG2 as ready",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2026-04-04T15:38:16.130903+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dlg2 has been classified as Green List (High Evidence).",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2026-04-04T15:37:44.090882+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DLG2 were set to 37860969; 32341572",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2026-04-04T15:37:35.837223+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: DLG2 were changed from Intellectual disability (MONDO#0001071), DLG2-related; delayed puberty, self-limited, MONDO:0859205 to delayed puberty, self-limited, MONDO:0859205",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2026-04-04T15:37:01.038989+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.109",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene DLG2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-04-04T15:37:00.976723+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DLG2 was added\ngene: DLG2 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Literature\nSV/CNV tags were added to gene: DLG2.\nMode of inheritance for gene: DLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DLG2 were set to 37860969; 32341572\nPhenotypes for gene: DLG2 were set to Intellectual disability (MONDO#0001071), DLG2-related; delayed puberty, self-limited, MONDO:0859205",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2026-04-04T15:36:29.197286+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4716",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: DLG2 were changed from Intellectual disability (MONDO#0001071), DLG2-related to Intellectual disability (MONDO#0001071), DLG2-related; delayed puberty, self-limited, MONDO:0859205",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2026-04-04T15:36:12.826289+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4715",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DLG2 were set to PMID: 37860969",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2026-04-04T15:35:50.243099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4714",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DLG2 as Green List (high evidence)",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2026-04-04T15:35:50.233065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4714",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dlg2 has been classified as Green List (High Evidence).",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2026-04-04T15:35:33.103230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4713",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DLG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32341572; Phenotypes: delayed puberty, self-limited, MONDO:0859205; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:54:09.079595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4713",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene DIP2B from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-04-03T15:54:08.041828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4713",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DIP2B was added\ngene: DIP2B was added to Mendeliome. Sources: Expert Review Red,Genetic Health Queensland\n5'UTR tags were added to gene: DIP2B.\nMode of inheritance for gene: DIP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DIP2B were set to 17236128; 33688487\nPhenotypes for gene: DIP2B were set to Mental retardation, FRA12A type, MIM# 136630\nMode of pathogenicity for gene: DIP2B was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:53:41.808713+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.745",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DIP2B were set to 17236128",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:53:13.292994+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.744",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DIP2B as Red List (low evidence)",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:53:13.288480+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.744",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: STR added as an STR",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:53:13.266167+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.744",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dip2b has been classified as Red List (Low Evidence).",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:52:18.813470+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.743",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:52:03.711279+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.743",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: DIP2B: Added comment: PMID 33688487 reports two siblings from one family with a heterozygous splice‑site loss‑of‑function DIP2B variant causing moderate intellectual disability.; Changed rating: RED; Changed publications: 33688487; Changed phenotypes: intellectual disability MONDO:0001071; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DIP2B",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:42:32.359115+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CREB3L3 were set to 32580631; 29954705; 27982131; 27291420; 26427795; 21666694",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:42:20.165373+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CREB3L3 as Green List (high evidence)",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:42:20.154828+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: creb3l3 has been classified as Green List (High Evidence).",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:42:11.253893+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CREB3L3: Added comment: Recent studies expand the evidence base for CREB3L3. PMID 34491909 adds a cohort of ten unrelated adults with heterozygous loss‑of‑function or missense CREB3L3 variants who present with severe adult‑onset hypertriglyceridemia, detailed lipoprotein profiling, and mouse‑model rescue of the lipid phenotype. PMID 41099101 reports six additional heterozygous CREB3L3 carriers among patients with multifactorial chylomicronemia syndrome.; Changed rating: GREEN; Changed publications: 32580631, 29954705, 27982131, 27291420, 26427795, 21666694, 41099101, 34491909",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:37:30.430401+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene CREB3L3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-04-03T15:36:51.826247+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4712",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CREB3L3 were set to 32580631; 29954705; 27982131; 27291420; 26427795; 21666694",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:36:23.798802+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4711",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CREB3L3 as Green List (high evidence)",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:36:23.789820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4711",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: creb3l3 has been classified as Green List (High Evidence).",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2026-04-03T15:36:07.016779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4710",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CREB3L3: Added comment: Recent studies expand the evidence base for CREB3L3. PMID 34491909 adds a cohort of ten unrelated adults with heterozygous loss‑of‑function or missense CREB3L3 variants who present with severe adult‑onset hypertriglyceridemia, detailed lipoprotein profiling, and mouse‑model rescue of the lipid phenotype. PMID 41099101 reports six additional heterozygous CREB3L3 carriers among patients with multifactorial chylomicronemia syndrome.; Changed rating: GREEN; Changed publications: 41099101, 34491909, 26427795; Changed phenotypes: hypertriglyceridemia, MONDO:0005347; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2026-04-03T14:39:04.203574+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.359",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: COL4A6 were set to 23714752; 33840813; 41092388",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2026-04-03T14:38:10.529891+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.358",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COL4A6 as Green List (high evidence)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2026-04-03T14:38:10.520615+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.358",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col4a6 has been classified as Green List (High Evidence).",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2026-04-03T14:37:35.599112+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.357",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene COL4A6 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-04-03T14:36:30.515790+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4710",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: COL4A6 were set to 23714752; 12784310; 33840813",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2026-04-03T14:35:45.810027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4709",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2026-04-03T14:35:29.079908+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4708",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COL4A6 as Green List (high evidence)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2026-04-03T14:35:29.066177+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4708",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col4a6 has been classified as Green List (High Evidence).",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2026-04-03T14:35:09.955793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4707",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: COL4A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 41092388, 40928595, 23714752, 39272213, 33840813; Phenotypes: hearing loss, X-linked 6, MONDO:0010484; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:38:26.685686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDTC1 as ready",
"entity_name": "WDTC1",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:38:26.658059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdtc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDTC1",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:37:56.135150+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDTC1 as ready",
"entity_name": "WDTC1",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:37:56.125435+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdtc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDTC1",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:37:45.663920+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDTC1 as ready",
"entity_name": "WDTC1",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:37:45.653977+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdtc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDTC1",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:34:48.088731+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC9 as ready",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:34:48.081492+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:34:42.105574+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCC9 as Amber List (moderate evidence)",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:34:42.095479+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:32:42.699859+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PI4KA as ready",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:32:42.692483+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pi4ka has been classified as Amber List (Moderate Evidence).",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:32:38.425276+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PI4KA as Amber List (moderate evidence)",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2026-04-02T19:32:38.413843+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pi4ka has been classified as Amber List (Moderate Evidence).",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:50:29.699861+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD3 as ready",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:50:29.691856+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd3 has been classified as Green List (High Evidence).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:50:25.318455+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD3 as Green List (high evidence)",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:50:25.308562+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd3 has been classified as Green List (High Evidence).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:50:02.558034+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHD3 was added\ngene: CHD3 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD3 were set to 37086723\nPhenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, MIM#618205\nReview for gene: CHD3 was set to GREEN\nAdded comment: PMID 37086723 reports three unrelated individuals with de novo heterozygous missense CHD3 variants in the helicase domain causing syndromic craniosynostosis (metopic/sagittal) with congenital onset. The variants are absent from population databases, segregation is confirmed de novo, and the paper identifies CHD3 as one of 13 genome‑wide significant craniosynostosis genes. \nSources: Literature",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:45:15.663142+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT5B as ready",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:45:15.653481+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt5b has been classified as Green List (High Evidence).",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:45:11.621667+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT5B as Green List (high evidence)",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:45:11.613897+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt5b has been classified as Green List (High Evidence).",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:44:43.384010+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KMT5B: Changed rating: GREEN",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:44:36.503593+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT5B was added\ngene: KMT5B was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT5B were set to 37086723\nPhenotypes for gene: KMT5B were set to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788\nAdded comment: PMID 37086723 reports 3 individuals from 3 unrelated families with heterozygous de novo loss‑of‑function (2 frameshift) or missense KMT5B variants presenting with syndromic craniosynostosis (metopic) with congenital onset. Variants are absent from population databases; de novo segregation confirmed. \nSources: Literature",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:35:59.803360+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JAG1 were set to 29530693; 12244552",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:35:36.602470+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JAG1 as Green List (high evidence)",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:35:36.591093+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Green List (High Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:35:07.237864+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JAG1: Added comment: PMID 39742518 reports 6 individuals from 5 unrelated families with heterozygous loss-of-function JAG1 variants presenting with pediatric-onset craniosynostosis in the context of Alagille syndrome.; Changed rating: GREEN; Changed publications: 29530693, 12244552, 39742518; Changed phenotypes: Alagille syndrome 1, MIM# 118450",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:28:02.584401+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIFM1 as ready",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:28:02.576661+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.430",
"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": "2026-04-02T18:27:07.273056+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AIFM1 as Green List (high evidence)",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:27:07.263315+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.430",
"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": "2026-04-02T18:26:44.843800+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIFM1 was added\ngene: AIFM1 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: AIFM1 were set to 33439541; 28842795; 27102849\nPhenotypes for gene: AIFM1 were set to spondyloepimetaphyseal dysplasia, Bieganski type, MONDO:0010275; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232\nReview for gene: AIFM1 was set to GREEN\nAdded comment: PMID 28842795 reports 12 affected males from 6 unrelated families with X‑linked AIFM1 variants; PMID 27102849 reports 7 affected males from 2 unrelated families with the recurrent p.Asp237Gly variant; PMID 33439541 adds 2 affected males from 2 families (one novel intronic splice variant, one previously reported synonymous variant). All cases present with short stature, kyphoscoliosis, spondylometaphyseal dysplasia, cerebral hypomyelination, motor delay and progressive neurodegeneration. Functional studies show reduced AIFM1 mRNA/protein and exon‑7 skipping, supporting loss‑of‑function. X‑linked recessive inheritance with carrier mothers (occasionally mosaic) is consistently reported. \nSources: Literature",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:22:14.475857+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADNP as ready",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:22:14.464086+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adnp has been classified as Green List (High Evidence).",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:22:08.991782+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADNP as Green List (high evidence)",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:22:08.984987+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adnp has been classified as Green List (High Evidence).",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2026-04-02T18:16:26.214330+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADNP was added\ngene: ADNP was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADNP were set to 37086723\nPhenotypes for gene: ADNP were set to Helsmoortel-van der Aa syndrome MIM#615873\nReview for gene: ADNP was set to GREEN\nAdded comment: PMID 37086723 reports 3 individuals from 3 unrelated families with heterozygous de novo loss-of-function ADNP variants presenting with syndromic craniosynostosis (sagittal or metopic) of congenital onset. \nSources: Literature",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2026-04-02T17:30:09.569914+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "2.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DONSON were changed from Microcephaly-micromelia syndrome (MIM#251230); Microcephaly, short stature, and limb abnormalities (MIM#617604) to Microcephaly-micromelia syndrome (MIM#251230); Microcephaly, short stature, and limb abnormalities (MIM#617604); Meier-Gorlin syndrome 10, MIM# 621528",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2026-04-02T17:29:41.910651+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DONSON: Changed phenotypes: Microcephaly, short stature, and limb abnormalities, MIM# 617604, Microcephaly-micromelia syndrome, MIM# 251230, MONDO:0009619, Meier-Gorlin syndrome 10, MIM# 621528",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2026-04-02T17:29:22.326800+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DONSON were changed from Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230 to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; Meier-Gorlin syndrome 10, MIM# 621528",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2026-04-02T17:28:44.751106+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DONSON: Changed phenotypes: Microcephaly, short stature, and limb abnormalities, MIM# 617604, Microcephaly-micromelia syndrome, MIM# 251230, Meier-Gorlin syndrome 10, MIM# 621528",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2026-04-02T17:28:27.857641+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DONSON were changed from Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619 to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619; Meier-Gorlin syndrome 10, MIM# 621528",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2026-04-02T17:27:53.496080+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DONSON: Changed phenotypes: Microcephaly, short stature, and limb abnormalities, MIM# 617604, Microcephaly-micromelia syndrome, MIM# 251230, Meier-Gorlin syndrome 10, MIM# 621528",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2026-04-02T17:27:31.124799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DONSON were changed from Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619 to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619; Meier-Gorlin syndrome 10, MIM# 621528",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2026-04-02T17:27:06.213792+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DONSON: Changed phenotypes: Microcephaly, short stature, and limb abnormalities, MIM# 617604, Microcephaly-micromelia syndrome, MIM# 251230, MONDO:0009619, Meier-Gorlin syndrome 10, MIM# 621528",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2026-04-02T17:26:43.838147+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DONSON: Changed phenotypes: Microcephaly, short stature, and limb abnormalities, MIM# 617604, Microcephaly-micromelia syndrome, MIM# 251230, MONDO:0009619, Meier-Gorlin syndrome 10, MIM# 621528",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2026-04-02T16:00:17.840492+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4706",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ASNA1.",
"entity_name": "ASNA1",
"entity_type": "gene"
},
{
"created": "2026-04-02T16:00:00.449704+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4706",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ASNA1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008925; Phenotypes: cardiomyopathy, dilated, 2H MONDO:0859358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASNA1",
"entity_type": "gene"
},
{
"created": "2026-04-02T15:53:18.643323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4706",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GATAD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: dilated cardiomyopathy 2B MONDO:0013848; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATAD1",
"entity_type": "gene"
},
{
"created": "2026-04-02T15:43:59.630703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4706",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: LIMITED classified by ClinGen Dilated Cardiomyopathy GCEP on 04/03/2026 - https://search.clinicalgenome.org/CCID:004012\r\n\r\nTwo individuals reported with heart failure and idiopathic dilated cardiomyopathy with rare missense and frameshift variants. ClinGen also reports animal models however given the uncertainty of the GDA, gene remain as AMBER given the two reports in affected individuals. \nSources: ClinGen; to: LIMITED classified by ClinGen Dilated Cardiomyopathy GCEP on 04/03/2026 - https://search.clinicalgenome.org/CCID:004012\r\n\r\nTwo individuals reported with heart failure and idiopathic dilated cardiomyopathy with rare missense and frameshift variants. ClinGen also reports animal models however given the uncertainty of the GDA relating to DCM, gene remain as AMBER for DCM given the two reports in affected individuals. \r\n\r\nGREEN association for Hypertrichotic osteochondrodysplasia Cantu type.\r\n\r\nSources: ClinGen",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2026-04-02T15:36:43.495342+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4706",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Added reviews for gene ABCC9 from panel Dilated Cardiomyopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-04-02T15:33:22.064123+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.65",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ABCC9 was added\ngene: ABCC9 was added to Dilated Cardiomyopathy. Sources: ClinGen\nMode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABCC9 were set to 15034580\nPhenotypes for gene: ABCC9 were set to dilated cardiomyopathy 1O MONDO:0012062\nReview for gene: ABCC9 was set to AMBER\nAdded comment: LIMITED classified by ClinGen Dilated Cardiomyopathy GCEP on 04/03/2026 - https://search.clinicalgenome.org/CCID:004012\r\n\r\nTwo individuals reported with heart failure and idiopathic dilated cardiomyopathy with rare missense and frameshift variants. ClinGen also reports animal models however given the uncertainty of the GDA, gene remain as AMBER given the two reports in affected individuals. \nSources: ClinGen",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2026-04-02T15:15:44.660225+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2026-04-02T15:15:42.653085+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: NKX2-1: PMID 30186310 reports 2 affected individuals (father-daughter) from 1 unrelated family (heterozygous nonsense variant - c.338G>A p.Trp113*) presenting with hypogonadotropic hypogonadism and growth‑hormone deficiency. PMID 33270637 reports 1 affected individual (heterozygous missense variant - c.67G>C) with pituitary stalk interruption syndrome, choreoathetosis and hypogonadotropic hypogonadism. No segregation data for 2nd case. No functional validation for both variants.",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2026-04-02T15:15:30.867879+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NKX2-1 as ready",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2026-04-02T15:15:30.857778+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nkx2-1 has been classified as Red List (Low Evidence).",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2026-04-02T15:15:21.712082+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: NKX2-1 were set to 10931427; 27066577; 26839702; 26103969",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2026-04-02T15:15:14.647125+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.107",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-1 were changed from NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520; Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700 to NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2026-04-02T15:15:10.954803+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.208",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-1 were changed from NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520; Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700 to NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2026-04-02T15:15:03.471669+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.207",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: NKX2-1 were set to 10931427; 27066577; 26839702; 26103969",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2026-04-02T15:14:49.258136+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.206",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NKX2-1 as Red List (low evidence)",
"entity_name": "NKX2-1",
"entity_type": "gene"
}
]
}