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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=63",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=61",
"results": [
{
"created": "2026-01-09T15:31:27.848475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4025",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LIPT1 were changed from Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation to Lipoyltransferase 1 deficiency, MIM#616299",
"entity_name": "LIPT1",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:12:28.565410+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.24",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LCAT were changed from Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120 to Norum disease MIM#245900; Fish-Eye disease, MIM# 136120",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:11:12.656896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4024",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LCAT were changed from Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120 to Norum disease MIM#245900; Fish-Eye disease, MIM# 136120",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:09:30.332193+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.335",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:09:07.987535+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.95",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6\t613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6\t608840; Walker Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6\t613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:08:53.203672+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.81",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:08:19.495194+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.534",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:07:31.939339+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.28",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:02:14.479749+11:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "1.14",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Epidermolysis bullosa, junctional 3A, intermediate MIM#619785; Epidermolysis bullosa, junctional 3B, severe MIM#619786",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:02:07.192587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4023",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Epidermolysis bullosa, junctional 3A, intermediate MIM#619785; Epidermolysis bullosa, junctional 3B, severe MIM#619786",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2026-01-09T15:01:44.085020+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.24",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Epidermolysis bullosa, junctional 3A, intermediate MIM#619785; Epidermolysis bullosa, junctional 3B, severe MIM#619786",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:59:09.459721+11:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "1.13",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB3 were changed from Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional 1A, intermediate MIM#226650; Epidermolysis bullosa, junctional 1B, severe MIM#226700",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:58:50.726364+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4022",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB3 were changed from Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional 1A, intermediate MIM#226650; Epidermolysis bullosa, junctional 1B, severe MIM#226700",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:51:43.477779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4021",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 to LAMA2-related muscular dystrophy MONDO:0100228; Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:50:38.489964+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4020",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: LAMA2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: LAMA2-related muscular dystrophy MONDO:0100228; Mode of inheritance: None",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:42:35.492714+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TMEM251 from panel Skeletal dysplasia",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T14:42:35.283690+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM251 was added\ngene: TMEM251 was added to Arthrogryposis. Sources: Expert Review Green,Literature\nnew gene name tags were added to gene: TMEM251.\nMode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM251 were set to 33252156; 40171858\nPhenotypes for gene: TMEM251 were set to Dysostosis multiplex, Ain-Naz type 619345",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:08:41.907823+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.505",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:08:31.647687+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.559",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:08:10.495292+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.20",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:04:32.452447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4020",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:04:17.220408+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.236",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51\tMIM# 617788",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:02:41.611497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: TMEM251.",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:01:03.225024+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM251 as ready",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:01:03.215428+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem251 has been classified as Green List (High Evidence).",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:00:29.306076+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TMEM251 from panel Skeletal dysplasia",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T14:00:29.046207+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM251 was added\ngene: TMEM251 was added to Lysosomal Storage Disorder. Sources: Expert Review Green,Literature\nnew gene name tags were added to gene: TMEM251.\nMode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM251 were set to 33252156; 40171858\nPhenotypes for gene: TMEM251 were set to Dysostosis multiplex, Ain-Naz type 619345",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:00:23.890502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM251 were set to 33252156",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:00:01.716792+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM251 as Green List (high evidence)",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T14:00:01.705055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem251 has been classified as Green List (High Evidence).",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:59:47.982277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM251: Added comment: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.\r\n\r\nHGNC approved name is LYSET.; Changed rating: GREEN; Changed publications: 40171858",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:58:52.662134+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.; to: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.\r\n\r\nHGNC approved name is LYSET.",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:58:37.346234+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: TMEM251.",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:57:43.076892+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM251 were set to 33252156",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:57:14.146852+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM251: Changed publications: 40171858",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:56:56.623035+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM251 as Green List (high evidence)",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:56:56.615132+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem251 has been classified as Green List (High Evidence).",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:56:29.745063+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM251: Changed rating: GREEN",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:56:20.324150+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TMEM251: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.",
"entity_name": "TMEM251",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:56:10.681120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4017",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL7 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:51:43.571045+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNALI1 as ready",
"entity_name": "DNALI1",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:51:43.563744+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnali1 has been classified as Green List (High Evidence).",
"entity_name": "DNALI1",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:51:27.538878+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene DNALI1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T13:51:27.464451+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNALI1 was added\ngene: DNALI1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: DNALI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNALI1 were set to 40298292; 38212584; 36792588; 36726469\nPhenotypes for gene: DNALI1 were set to Spermatogenic failure, MONDO:0004983, DNALI1-related",
"entity_name": "DNALI1",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:51:05.129384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNALI1 as ready",
"entity_name": "DNALI1",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:51:05.122871+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnali1 has been classified as Green List (High Evidence).",
"entity_name": "DNALI1",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:50:44.493843+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNALI1 as Green List (high evidence)",
"entity_name": "DNALI1",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:50:44.469822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnali1 has been classified as Green List (High Evidence).",
"entity_name": "DNALI1",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:50:27.799728+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNALI1 was added\ngene: DNALI1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DNALI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNALI1 were set to 40298292; 38212584; 36792588; 36726469\nPhenotypes for gene: DNALI1 were set to Spermatogenic failure, MONDO:0004983, DNALI1-related\nReview for gene: DNALI1 was set to GREEN\nAdded comment: PMIDs 36726469, 36792588, 38212584 and 40298292 report four unrelated individuals from four families with biallelic loss‑of‑function DNALI1 variants (c.691_693del, c.663_666del, c.464‑1G>A, c.490dup) causing male infertility characterised by severe asthenozoospermia/asthénoteratozoospermia. The variants segregate as autosomal recessive and functional studies—including a mouse knockout recapitulating infertility, TEM showing loss of inner dynein arms, immunofluorescence loss of DNALI1 protein, and a minigene splicing assay demonstrating exon skipping—support loss‑of‑function as the disease mechanism. \nSources: Literature",
"entity_name": "DNALI1",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:48:57.941787+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAGLB as ready",
"entity_name": "DAGLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:48:57.913153+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daglb has been classified as Green List (High Evidence).",
"entity_name": "DAGLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:48:19.792393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4014",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy; Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM#\t620236 to Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy MIM# 617294; Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM#\t620236",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:48:08.685810+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.23",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss, MIM# 617294 to Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy MIM# 617294",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:47:54.255068+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene DAGLB from panel Early-onset Parkinson disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-09T13:47:54.008066+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DAGLB was added\ngene: DAGLB was added to Incidentalome. Sources: Expert Review Green,Literature\nMode of inheritance for gene: DAGLB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAGLB were set to 35715418; 40244389\nPhenotypes for gene: DAGLB were set to Parkinson disease, MONDO:0005180, DALGB-related",
"entity_name": "DAGLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:47:03.094146+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAGLB as ready",
"entity_name": "DAGLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:47:03.083702+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daglb has been classified as Green List (High Evidence).",
"entity_name": "DAGLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:47:00.732431+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAGLB were changed from to Parkinson disease, MONDO:0005180, DALGB-related",
"entity_name": "DAGLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:46:23.462219+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DAGLB: Changed phenotypes: Parkinson disease, MONDO:0005180, DALGB-related",
"entity_name": "DAGLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:45:27.503429+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DAGLB as Green List (high evidence)",
"entity_name": "DAGLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:45:27.496610+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: daglb has been classified as Green List (High Evidence).",
"entity_name": "DAGLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:44:52.610538+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DAGLB was added\ngene: DAGLB was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: DAGLB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAGLB were set to 35715418; 40244389\nReview for gene: DAGLB was set to GREEN\nAdded comment: PMID 35715418 reports 6 individuals from 4 families and PMID 40244389 reports 3 individuals from 3 families, together comprising 9 individuals from 7 unrelated families with biallelic loss-of-function DAGLB variants causing early‑onset Parkinsonism (onset 27‑52 years) characterized by resting tremor, bradykinesia, rigidity, postural instability and good levodopa response. Functional studies (Western blot loss of DAGLB protein, CRISPR‑SaCas9 knock‑down in mouse nigral dopaminergic neurons reducing 2‑AG levels, and rescue of motor deficits by MAGL inhibition) support loss‑of‑function as the disease mechanism. \nSources: Literature",
"entity_name": "DAGLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:42:40.665609+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.558",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KLF7 were changed from Intellectual disability to Neurodevelopmental disorder (MONDO:0700092), KLF7-related",
"entity_name": "KLF7",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:42:20.520107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4013",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KLF7 were changed from Intellectual disability to Neurodevelopmental disorder (MONDO:0700092), KLF7-related",
"entity_name": "KLF7",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:39:40.959044+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.21",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KLF10 were changed from HCM to Hypertrophic cardiomyopathy MONDO:0005045, KLF10-related",
"entity_name": "KLF10",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:39:15.053956+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4012",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KLF10 were changed from HCM to Hypertrophic cardiomyopathy MONDO:0005045, KLF10-related",
"entity_name": "KLF10",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:38:11.361412+11:00",
"panel_name": "Hereditary Spastic Paraplegia",
"panel_id": 317,
"panel_version": "1.135",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KLC4 were changed from spastic paraplegia; progressive complicated spastic paraplegia to Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:37:34.202112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related to Inherited dystonia, MONDO:0044807, ATP5B-related; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:37:29.037739+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4010",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KLC4 were changed from Complicated hereditary spastic paraplegia to Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129",
"entity_name": "KLC4",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:37:16.442746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP5B were set to 36860166; 36239646",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:36:54.932805+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP5B: Added comment: PMID 40276935 reports another individual with a heterozygous splice‑donor variant c.1074+1G>T causing cerebral palsy with generalized dystonia.; Changed publications: 36860166, 36239646, 40276935; Changed phenotypes: Inherited dystonia, MONDO:0044807, ATP5B-related, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:36:06.914993+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related to Inherited dystonia, MONDO:0044807, ATP5B-related; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:35:56.942867+11:00",
"panel_name": "Hypogonadotropic hypogonadism",
"panel_id": 4521,
"panel_version": "0.78",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:35:51.959113+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.171",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:35:41.879279+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.33",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:35:39.024706+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP5B were set to 36860166; 36239646",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:35:00.113081+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP5B: Added comment: PMID 40276935 reports another individual with a heterozygous splice‑donor variant c.1074+1G>T causing cerebral palsy with generalized dystonia.; Changed publications: 36860166, 36239646, 40276935",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:34:33.348404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4008",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:33:54.884806+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP5B: Changed phenotypes: Inherited dystonia, MONDO:0044807, ATP5B-related, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:27:38.241823+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4007",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIRREL3 were changed from Intellectual disability to Intellectual disability MONDO:0001071, KIRREL3-related",
"entity_name": "KIRREL3",
"entity_type": "gene"
},
{
"created": "2026-01-09T13:23:56.138358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4006",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: KIF5B were changed from osteogenesis imperfecta, MONDO:0019019; Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia to osteogenesis imperfecta, MONDO:0019019, KIF5B-related; Skeletal dysplasia, MONDO:0018230, KIF5B-related",
"entity_name": "KIF5B",
"entity_type": "gene"
},
{
"created": "2026-01-08T19:41:30.377045+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.301",
"user_name": "Boris Keren",
"item_type": "entity",
"text": "gene: ZFHX4 was added\ngene: ZFHX4 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZFHX4 were set to PMID: 40367947\nPhenotypes for gene: ZFHX4 were set to intellectual disability; short stature; cleft\nPenetrance for gene: ZFHX4 were set to Incomplete\nReview for gene: ZFHX4 was set to GREEN\ngene: ZFHX4 was marked as current diagnostic\nAdded comment: New series with 57 probands with neurodevelopmental disorders and ZFHX4 pathogenic variants, mostly LoF and de novo.\r\nSome patients have cleft palate. \nSources: Literature",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2026-01-08T19:40:12.037716+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.557",
"user_name": "Boris Keren",
"item_type": "entity",
"text": "reviewed gene: ZFHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40367947; Phenotypes: intellectual disability, short stature, cleft; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2026-01-08T18:02:17.395689+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-08T18:02:00.861804+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-08T18:01:34.921239+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-08T18:01:15.156725+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCM2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-08T18:00:15.437005+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.23",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCM2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-08T18:00:01.598412+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPIDR as ready",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2026-01-08T18:00:01.590454+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spidr has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:59:40.201166+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SPIDR from panel Primary Ovarian Insufficiency_Premature Ovarian Failure",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-08T17:59:40.109374+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPIDR was added\ngene: SPIDR was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: SPIDR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPIDR were set to 34794894; 34697795; 27967308; 41393291\nPhenotypes for gene: SPIDR were set to Ovarian dysgenesis 9, MIM# 619665",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:59:39.582142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4005",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: GCM2 were changed from Hyperparathyroidism 4, OMIM #617343 to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:59:28.955534+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4004",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene: GCM2 were set to 27745835",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:59:27.518605+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPIDR were set to 34794894; 34697795; 27967308",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:59:19.120032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4003",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:59:16.322267+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPIDR: Added comment: PMID 41393291: A single individual (P25) from a large cohort carries a homozygous in‑frame deletion p.Cys310_Glu313del in SPIDR, associated with POI. Segregation confirms carrier status. Variant is a VOUS however.; Changed publications: 41393291",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:57:14.326873+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP43 as ready",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:57:14.319444+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap43 has been classified as Green List (High Evidence).",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2026-01-08T17:57:06.101749+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CFAP43",
"entity_type": "gene"
}
]
}