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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=8",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=6",
"results": [
{
"created": "2026-03-27T21:06:46.248472+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.348",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DIAPH3 as Green List (high evidence)",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2026-03-27T21:06:46.241305+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.348",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: diaph3 has been classified as Green List (High Evidence).",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2026-03-27T21:06:11.428762+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.347",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DIAPH3 were set to 23441200; 20624953; 27658576; 38860500; 39767564",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2026-03-27T21:04:38.043385+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.346",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene DIAPH3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-27T21:03:14.793638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4664",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DIAPH3 as Green List (high evidence)",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2026-03-27T21:03:14.782014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4664",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: diaph3 has been classified as Green List (High Evidence).",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2026-03-27T21:02:49.707150+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4663",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DIAPH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 41511813, 40040362, 38860500, 39767564, 20624953; Phenotypes: autosomal dominant auditory neuropathy 1, MONDO:0012196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "DIAPH3",
"entity_type": "gene"
},
{
"created": "2026-03-27T19:38:19.423886+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OCA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2026-03-27T19:37:44.946534+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OCA2: Added comment: OCA2 is now supported by 53 unrelated families (63 patients) across five studies. All families show autosomal recessive inheritance.; Changed publications: 32741191, 20301410, 38030918, 41807736, 31141302, 37650133, 41292147",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2026-03-27T19:36:15.653782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OCA2 were changed from Albinism, brown oculocutaneous 203200; Albinism, oculocutaneous, type II 203200; autosomal dominant Albinism, oculocutaneous to Albinism, oculocutaneous, type II, MIM# 203200",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2026-03-27T19:35:57.022822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OCA2 were set to 32741191; 24518832; 20301410",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2026-03-27T19:35:33.962052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OCA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2026-03-27T19:35:13.148018+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38030918, 41807736, 31141302, 37650133, 41292147; Phenotypes: Albinism, oculocutaneous, type II, MIM# 203200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2026-03-27T19:32:23.501780+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4660",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTGF was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CTGF",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:42:09.338393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLRP5 were changed from Early embryonic arrest; Multi locus imprinting disturbance in offspring to Early embryonic arrest; Multi locus imprinting disturbance in offspring; Oocyte/zygote/embryo maturation arrest 19, MIM# 620333",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:41:50.737589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLRP5 were set to 32222962; 31829238; 30877238; 26323243; 34440388",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:41:27.844349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NLRP5: Added comment: PMID 39887367 reports 7 unrelated families with biallelic NLRP5 variants causing early embryonic arrest and female infertility; Changed publications: 32222962, 31829238, 30877238, 26323243, 34440388, 39887367; Changed phenotypes: Early embryonic arrest, Multi locus imprinting disturbance in offspring, Oocyte/zygote/embryo maturation arrest 19, MIM# 620333",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:40:37.314992+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLRP5 were set to 30877238; 32222962; 35091966; 35946397; 33583041",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:40:19.174409+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NLRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 39887367; Phenotypes: Oocyte/zygote/embryo maturation arrest 19, MIM# 620333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NLRP5",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:38:32.215548+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH6 were changed from Atrial septal defect 3 (MIM#614089) to Atrial septal defect 3 (MIM#614089); MYH-6 related congenital heart defects MONDO:0800442",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:38:21.119664+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH6 were set to 20656787; 29969989; 15735645",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:38:10.147656+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:37:45.761946+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: None; Publications: 28991257; Phenotypes: MYH-6 related congenital heart defects MONDO:0800442; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:36:47.328293+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH6 were changed from Atrial septal defect 3 MIM#614089; Congenital heart disease; Cardiomyopathy, dilated, 1EE MIM#613252; Cardiomyopathy, hypertrophic, 14 MIM#613251; {Sick sinus syndrome 3} MIM#614090 to Atrial septal defect 3 MIM#614089; MYH-6 related congenital heart defects MONDO:0800442; Cardiomyopathy, dilated, 1EE MIM#613252; Cardiomyopathy, hypertrophic, 14 MIM#613251; {Sick sinus syndrome 3} MIM#614090",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:36:28.452269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH6 were set to 32656206; 31638415; 29969989; 29536580; 29332214; 30681346",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:36:06.940269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:35:41.105494+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Please note the association with HCM has been rated as LIMITED by ClinGen.\r\n\r\nThere is a broader reported association with congenital heart disease beyond ASD.; to: Please note the association with HCM has been rated as LIMITED by ClinGen. The association with HCM is DISPUTED.\r\n\r\nThere is a broader reported association with congenital heart disease beyond ASD.",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:34:59.055763+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYH6: Added comment: PMID 28991257 reports 7 unrelated families with biallelic MYH6 variants (loss‑of‑function and missense alleles) causing Shone complex—a left‑ventricular outflow tract obstruction syndrome with mitral and aortic valve disease.; Changed publications: 32656206, 31638415, 29969989, 29536580, 29332214, 30681346, 28991257; Changed phenotypes: Atrial septal defect 3 MIM#614089, MYH-6 related congenital heart defects MONDO:0800442, Cardiomyopathy, dilated, 1EE MIM#613252, Cardiomyopathy, hypertrophic, 14 MIM#613251, {Sick sinus syndrome 3} MIM#614090; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:33:49.841967+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH6 as ready",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:33:49.835073+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh6 has been classified as Green List (High Evidence).",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:33:44.352086+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH6 were set to ",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:32:29.108651+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T18:31:27.067975+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: None; Publications: 28991257; Phenotypes: MYH-6 related congenital heart defects MONDO:0800442; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:13:28.130707+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF22 were set to 25256152; 22152677; 22152678",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:13:02.158072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF22 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:12:48.585015+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF22: Added comment: PMID 38477767 reports six individuals from six unrelated families (three with a homozygous c.146G>A p.Arg49Gln recessive variant and three with heterozygous c.443C>T p.Pro148Leu or c.446G>A p.Arg149Gln dominant variants) presenting with spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto‑SEMDJL). All patients display short stature, generalized joint laxity, multiple dislocations, scoliosis, and characteristic radiographic findings.\r\n\r\nEvidence for recessive disease is limited to the one variant, albeit in three families (?founder).; Changed publications: 25256152, 38477767; Changed phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2, MIM# 603546; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:12:07.024583+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF22 as ready",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:12:07.014447+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif22 has been classified as Green List (High Evidence).",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:12:04.614158+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF22 were changed from Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 to Spondyloepimetaphyseal dysplasia with joint laxity, type 2, MIM# 603546",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:11:41.800120+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF22 were set to ",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:11:14.211797+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF22 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:10:39.955331+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF22: Added comment: PMID 38477767 reports six individuals from six unrelated families (three with a homozygous c.146G>A p.Arg49Gln recessive variant and three with heterozygous c.443C>T p.Pro148Leu or c.446G>A p.Arg149Gln dominant variants) presenting with spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto‑SEMDJL). All patients display short stature, generalized joint laxity, multiple dislocations, scoliosis, and characteristic radiographic findings.\r\n\r\nEvidence for recessive disease is limited to the one variant, albeit in three families (?founder).; Changed publications: 25256152, 38477767; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:10:37.799679+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene KIF22 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-27T17:09:58.618106+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.549",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene KIF22 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-27T17:08:38.234328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF22 were set to 22152677; 22152678; 25256152",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:08:09.912335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF22 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:07:52.577643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 5 unrelated families reported.; to: At least 5 unrelated families reported with mono allelic disease.",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:07:36.802625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF22: Added comment: PMID 38477767 reports six individuals from six unrelated families (three with a homozygous c.146G>A p.Arg49Gln recessive variant and three with heterozygous c.443C>T p.Pro148Leu or c.446G>A p.Arg149Gln dominant variants) presenting with spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto‑SEMDJL). All patients display short stature, generalized joint laxity, multiple dislocations, scoliosis, and characteristic radiographic findings. \r\n\r\nEvidence for recessive disease is limited to the one variant, albeit in three families (?founder).; Changed publications: 25256152, 38477767; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:02:42.925586+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDF9 were set to 29044499; 33036707; 38643161",
"entity_name": "GDF9",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:02:19.529156+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDF9 were set to 29044499; 8849725; 33036707",
"entity_name": "GDF9",
"entity_type": "gene"
},
{
"created": "2026-03-27T17:01:53.862893+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene GDF9 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-27T17:01:53.518217+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.134",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene GDF9 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-27T16:59:27.084761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDF9 were set to 29044499; 8849725; 33036707",
"entity_name": "GDF9",
"entity_type": "gene"
},
{
"created": "2026-03-27T16:59:00.441158+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GDF9: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GDF9",
"entity_type": "gene"
},
{
"created": "2026-03-27T16:58:51.812763+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GDF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 41783724, 38942181, 38672141, 38649916, 38643161, 35013061, 34095689, 33797006, 33538981, 33095795, 29044499, 27603904; Phenotypes: Premature ovarian failure 14, OMIM# 618014; Mode of inheritance: None",
"entity_name": "GDF9",
"entity_type": "gene"
},
{
"created": "2026-03-27T16:51:41.036272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXI1 were changed from autosomal recessive distal renal tubular acidosis MONDO:0018440 to autosomal recessive distal renal tubular acidosis MONDO:0018440; Hearing loss disorder, MONDO:0005365, FOXI1-related",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2026-03-27T16:51:22.096295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXI1 were set to 9843211; 12642503; 29242249; 17503324; 30268946; 27997596; 22285650; 23965030; 24860705; 32447495; 19204907",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2026-03-27T16:51:02.501679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXI1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2026-03-27T16:50:45.289871+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41833579, 27997596; Phenotypes: Hearing loss disorder, MONDO:0005365, FOXI1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2026-03-27T16:49:29.705419+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXI1 were changed from autosomal recessive distal renal tubular acidosis MONDO:0018440 to autosomal recessive distal renal tubular acidosis MONDO:0018440; Hearing loss disorder, MONDO:0005365, FOXI1-related",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2026-03-27T16:49:11.291887+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXI1 were set to 9843211; 12642503; 29242249; 17503324; 30268946; 27997596; 22285650; 23965030; 24860705; 32447495; 19204907",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2026-03-27T16:48:45.986986+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXI1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2026-03-27T16:48:18.816488+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FOXI1: Added comment: PMID 41833579: reports 2 individuals from 2 unrelated families (F814 and F824) with a de novo heterozygous in‑frame deletion c.479_481del (p.Asn161del) presenting with Mondini malformation, enlarged vestibular aqueduct, and severe to profound sensorineural hearing loss. The variant is absent from gnomAD and other databases. Functional evidence includes a Foxi1 N155del/+ knock‑in mouse model that recapitulates cochlear dysplasia, EVA and elevated ABR thresholds, and luciferase reporter assays showing a dominant‑negative reduction of SLC26A4 promoter activity.\r\n\r\nPMID 27997596 reports 2 unrelated individuals with heterozygous FOXI1 missense variants (c.519C>A de novo, c.716C>T) presenting with childhood‑onset sensorineural hearing loss and enlarged vestibular aqueduct. c.519C>A lies in the conserved forkhead DNA‑binding domain.; Changed rating: GREEN; Changed publications: 41833579, 27997596; Changed phenotypes: Hearing loss disorder, MONDO:0005365, FOXI1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:27:05.920976+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes to Syndromic disease, MONDO:0002254, RNU6ATAC-related; neonatal diabetes",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:26:50.738473+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU6ATAC were set to 40975062",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:26:39.920691+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Green List (high evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:26:39.914326+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Green List (High Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:26:29.694470+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU6ATAC: Changed publications: 41808409",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:26:20.802099+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 40975062 reports 1 individual from with biallelic RNU6ATAC variants causing childhood‑onset growth restriction, microcephaly, epilepsy, intellectual disability and ataxia. PMID 41808409 reports 3 unrelated families (3 individuals) with biallelic loss‑of‑function RNU6ATAC variants presenting with short stature, neurodevelopmental delay, epilepsy, immunodeficiency, skeletal dysplasia and other multisystem features; RNA‑seq shows marked excess of minor intron retention, confirming spliceosome dysfunction.\r\n\r\nHowever, note overlap in authors between the two papers ?double-counting.\r\n\r\nPMID 41864208 -- published version of the preprint referenced in previous reviews. 7 individuals from 4 families with early-onset diabetes (diagnosed aged <5 years) and immune dysregulatory features caused by bi-allelic variants in RNU6ATAC.\r\n\r\nGenotype-phenotype correlation unclear at this stage but note that of the three individuals reported in 41808409, one did not have ID/neurological features but all had immunological involvement.; to: PMID 41864208 -- published version of the preprint referenced in previous reviews. 7 individuals from 4 families with early-onset diabetes (diagnosed aged <5 years) and immune dysregulatory features caused by bi-allelic variants in RNU6ATAC.\r\n",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:25:34.616282+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes to Syndromic disease, MONDO:0002254, RNU6ATAC-related; neonatal diabetes",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:23:56.994898+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU6ATAC were set to 40975062",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:23:32.195892+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Green List (high evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:23:32.187013+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Green List (High Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:22:57.503404+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes to Syndromic disease, MONDO:0002254, RNU6ATAC-related",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:22:13.720734+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU6ATAC were set to 40975062",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:21:00.746566+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Green List (high evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:21:00.736617+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Green List (High Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:20:00.785911+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene RNU6ATAC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-27T14:19:57.667207+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Green List (high evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:19:57.659710+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Green List (High Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:19:57.655260+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.722",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene RNU6ATAC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-27T14:19:00.288867+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.394",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene RNU6ATAC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-27T14:17:17.441430+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes to Syndromic disease, MONDO:0002254, RNU6ATAC-related",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:16:46.909059+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU6ATAC were set to 40975062",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:15:37.054360+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Green List (high evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:15:37.044567+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Green List (High Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:14:55.958111+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU6ATAC: Added comment: PMID 40975062 reports 1 individual from with biallelic RNU6ATAC variants causing childhood‑onset growth restriction, microcephaly, epilepsy, intellectual disability and ataxia. PMID 41808409 reports 3 unrelated families (3 individuals) with biallelic loss‑of‑function RNU6ATAC variants presenting with short stature, neurodevelopmental delay, epilepsy, immunodeficiency, skeletal dysplasia and other multisystem features; RNA‑seq shows marked excess of minor intron retention, confirming spliceosome dysfunction.\r\n\r\nHowever, note overlap in authors between the two papers ?double-counting.\r\n\r\nPMID 41864208 -- published version of the preprint referenced in previous reviews. 7 individuals from 4 families with early-onset diabetes (diagnosed aged <5 years) and immune dysregulatory features caused by bi-allelic variants in RNU6ATAC.\r\n\r\nGenotype-phenotype correlation unclear at this stage but note that of the three individuals reported in 41808409, one did not have ID/neurological features but all had immunological involvement.; Changed rating: GREEN; Changed publications: 41808409, 40975062, 41864208; Changed phenotypes: Syndromic disease, MONDO:0002254, RNU6ATAC-related",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:14:24.616323+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene RNU6ATAC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-27T14:14:24.341712+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU6ATAC was added\ngene: RNU6ATAC was added to Disorders of immune dysregulation. Sources: Expert Review Green,Literature\nnon-coding gene tags were added to gene: RNU6ATAC.\nMode of inheritance for gene: RNU6ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU6ATAC were set to 41808409; 40975062; 41864208\nPhenotypes for gene: RNU6ATAC were set to Syndromic disease, MONDO:0002254, RNU6ATAC-related",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:12:42.295030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes to Syndromic disease, MONDO:0002254, RNU6ATAC-related",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:12:14.026050+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU6ATAC were set to 40975062",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:11:54.415789+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU6ATAC as Green List (high evidence)",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:11:54.406278+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu6atac has been classified as Green List (High Evidence).",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T14:11:36.636746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNU6ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 41808409, 40975062, 41864208; Phenotypes: Syndromic disease, MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU6ATAC",
"entity_type": "gene"
},
{
"created": "2026-03-27T11:36:50.477900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4645",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene ERG from panel Bone Marrow Failure",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T22:06:48.035299+11:00",
"panel_name": "Leukodystrophy",
"panel_id": 298,
"panel_version": "0.393",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Added reviews for gene PLEKHG2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T22:06:35.605698+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.721",
"user_name": "Rylee Peters",
"item_type": "panel",
"text": "Added reviews for gene PLEKHG2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-26T22:04:52.168615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4644",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Publications for gene: PLEKHG2 were set to 26573021",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2026-03-26T22:04:21.641093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4643",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: PLEKHG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40594583; Phenotypes: Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2026-03-26T21:17:46.266972+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4643",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: OXA1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 40551575, 30201738; Phenotypes: Combined oxidative phosphorylation deficiency (MONDO:0000732), OXA1L-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OXA1L",
"entity_type": "gene"
}
]
}