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{
"count": 220440,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=70",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=68",
"results": [
{
"created": "2026-01-02T15:16:39.812721+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for STR: ABCD3_OPDM_GCC were changed from Oculopharyngodistal myopathy MONDO:0025193 to Oculopharyngodistal myopathy 5, MIM# 621446",
"entity_name": "ABCD3_OPDM_GCC",
"entity_type": "str"
},
{
"created": "2026-01-02T15:16:32.251191+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for STR: ABCD3_OPDM_GCC were set to https://doi.org/10.1101/2023.10.09.23296582",
"entity_name": "ABCD3_OPDM_GCC",
"entity_type": "str"
},
{
"created": "2026-01-02T15:16:17.002894+11:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed STR: ABCD3_OPDM_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 5, MIM# 621446; Mode of inheritance: None",
"entity_name": "ABCD3_OPDM_GCC",
"entity_type": "str"
},
{
"created": "2026-01-02T15:16:05.174106+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for STR: ABCD3_OPDM_GCC were changed from Oculopharyngodistal myopathy MONDO:0025193 to Oculopharyngodistal myopathy 5, MIM# 621446",
"entity_name": "ABCD3_OPDM_GCC",
"entity_type": "str"
},
{
"created": "2026-01-02T15:15:49.086562+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed STR: ABCD3_OPDM_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 5, MIM# 621446; Mode of inheritance: None",
"entity_name": "ABCD3_OPDM_GCC",
"entity_type": "str"
},
{
"created": "2026-01-02T15:15:13.918483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for STR: ABCD3_OPDM_GCC were changed from Oculopharyngodistal myopathy MONDO:0025193; Oculopharyngodistal myopathy 5, MIM# 621446 to Oculopharyngodistal myopathy 5, MIM# 621446",
"entity_name": "ABCD3_OPDM_GCC",
"entity_type": "str"
},
{
"created": "2026-01-02T15:14:58.363738+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for STR: ABCD3_OPDM_GCC were changed from Oculopharyngodistal myopathy MONDO:0025193 to Oculopharyngodistal myopathy MONDO:0025193; Oculopharyngodistal myopathy 5, MIM# 621446",
"entity_name": "ABCD3_OPDM_GCC",
"entity_type": "str"
},
{
"created": "2026-01-02T15:14:39.430056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed STR: ABCD3_OPDM_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 5, MIM#\t621446; Mode of inheritance: None",
"entity_name": "ABCD3_OPDM_GCC",
"entity_type": "str"
},
{
"created": "2026-01-02T13:44:42.707329+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC13A1 were set to 36175384; doi: https://doi.org/10.1016/j.gimo.2024.101958",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:44:13.867503+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID now available.; to: PMID now available. Evidence is borderline with some contradictory, hence Amber rating.",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:43:55.643685+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC13A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39925707; Phenotypes: sulfation-related bone disorder MONDO:0019688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:41:06.185606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:40:54.598234+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPRY1 were set to 26365341",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:40:34.681674+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPRY1 as Green List (high evidence)",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:40:34.669329+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspry1 has been classified as Green List (High Evidence).",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:40:23.943228+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RSPRY1: Added comment: PMIDs 30063090, 38562122 and 39940902 add three additional unrelated families (total 5 families, 12 patients) with autosomal recessive loss‑of‑function RSPRY1 variants causing spondyloepimetaphyseal dysplasia, Faden‑Alkuraya type.; Changed rating: GREEN; Changed publications: 26365341, 30063090, 38562122, 39940902",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:39:34.447394+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPRY1 as Green List (high evidence)",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:39:34.437230+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspry1 has been classified as Green List (High Evidence).",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:39:07.209753+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RSPRY1: Changed rating: GREEN; Changed publications: 26365341, 30063090, 38562122, 39940902",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:38:44.717556+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: RSPRY1: PMIDs 30063090, 38562122 and 39940902 add three additional unrelated families (total 5 families, 12 patients) with autosomal recessive loss‑of‑function RSPRY1 variants causing spondyloepimetaphyseal dysplasia, Faden‑Alkuraya type.",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:38:09.946864+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPRY1 were set to 26365341",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:37:43.280967+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPRY1 as Green List (high evidence)",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:37:43.273117+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspry1 has been classified as Green List (High Evidence).",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:37:18.539736+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RSPRY1: Added comment: PMIDs 30063090, 38562122 and 39940902 add three additional unrelated families (total 5 families, 12 patients) with autosomal recessive loss‑of‑function RSPRY1 variants causing spondyloepimetaphyseal dysplasia, Faden‑Alkuraya type.; Changed rating: GREEN; Changed publications: 26365341, 30063090, 38562122, 39940902",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:36:15.862828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPRY1 were set to 26365341",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:35:53.666035+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPRY1 as Green List (high evidence)",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:35:53.650508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspry1 has been classified as Green List (High Evidence).",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:35:35.220080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RSPRY1: Added comment: PMIDs 30063090, 38562122 and 39940902 add three additional unrelated families (total 5 families, 12 patients) with autosomal recessive loss‑of‑function RSPRY1 variants causing spondyloepimetaphyseal dysplasia, Faden‑Alkuraya type.; Changed rating: GREEN; Changed publications: 26365341, 30063090, 38562122, 39940902",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:22:21.829880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAX1BP3 were set to 39963794",
"entity_name": "TAX1BP3",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:22:02.689143+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAX1BP3: Added comment: PMID 25645515 reports 2 individuals from a consanguineous family with autosomal recessive dilated cardiomyopathy and septo‑optic dysplasia and a homozygous missense variant in TAX1BP3.; Changed publications: 39963794, 25645515",
"entity_name": "TAX1BP3",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:20:51.166010+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAX1BP3 were set to (PMID: 39963794)",
"entity_name": "TAX1BP3",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:20:22.393299+11:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAX1BP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25645515; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAX1BP3",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:06:21.775700+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USMG5 as ready",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:06:21.764833+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usmg5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:05:33.555258+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.540",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene USMG5 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-02T13:05:33.222992+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USMG5 was added\ngene: USMG5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: USMG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USMG5 were set to 29917077; 30240627; 40014158\nPhenotypes for gene: USMG5 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:04:17.496853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USMG5 were set to 29917077; 30240627",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:03:57.590658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: USMG5: Changed rating: AMBER",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:03:48.454952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: USMG5: Rating: ; Mode of pathogenicity: None; Publications: 40014158; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:03:21.337096+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: USMG5.",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:02:23.703443+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USMG5 were set to 29917077; 30240627",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2026-01-02T13:01:48.835590+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: USMG5: Rating: AMBER; Mode of pathogenicity: None; Publications: 40014158; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USMG5",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:25:14.834675+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Further two individuals reported as part of NK cell deficiency cohort.; to: Same two sibs reported as part of NK cell deficiency cohort.",
"entity_name": "GINS4",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:25:05.934101+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GINS4: Changed rating: RED",
"entity_name": "GINS4",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:19:24.303595+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GINS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 39914554; Phenotypes: combined immunodeficiency MONDO:0015131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GINS4",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:17:12.491781+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TERB1 as ready",
"entity_name": "TERB1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:17:12.481457+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: terb1 has been classified as Green List (High Evidence).",
"entity_name": "TERB1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:16:58.492325+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TERB1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-01T17:16:58.421595+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TERB1 was added\ngene: TERB1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: TERB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TERB1 were set to 38277113; 35172124; 33211200; 32741963\nPhenotypes for gene: TERB1 were set to Infertility disorder, MONDO:0005047, TERB1-related",
"entity_name": "TERB1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:16:46.150524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TERB1 as ready",
"entity_name": "TERB1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:16:46.139788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: terb1 has been classified as Green List (High Evidence).",
"entity_name": "TERB1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:16:39.669361+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TERB1 as Green List (high evidence)",
"entity_name": "TERB1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:16:39.655583+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: terb1 has been classified as Green List (High Evidence).",
"entity_name": "TERB1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:16:26.153253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TERB1 was added\ngene: TERB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TERB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TERB1 were set to 38277113; 35172124; 33211200; 32741963\nPhenotypes for gene: TERB1 were set to Infertility disorder, MONDO:0005047, TERB1-related\nReview for gene: TERB1 was set to GREEN\nAdded comment: PMIDs 32741963, 33211200, 35172124 and 38277113 report a total of 5 unrelated families with biallelic loss‑of‑function or missense TERB1 variants causing male infertility (non‑obstructive azoospermia with spermatogenic arrest) and 2 unrelated families with primary female infertility (diminished ovarian reserve). The variants include frameshift, stop‑gain and missense changes; mouse Terb1 knockout recapitulates the meiotic‑arrest phenotype. \nSources: Literature",
"entity_name": "TERB1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:15:02.721108+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C14orf80 as Green List (high evidence)",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:15:02.712787+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c14orf80 has been classified as Green List (High Evidence).",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:14:33.405951+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C14orf80: Added comment: PMID 30842647 reports another individual with compound heterozygous loss‑of‑function TEDC1 variants (splice and frameshift) causing primary microcephaly, primordial dwarfism and developmental delay. Promote to Green.; Changed rating: GREEN; Changed publications: 39979680, 38252227, 30842647",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:14:02.691333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C14orf80 were set to 39979680; 38252227",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:13:42.334766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C14orf80 as Green List (high evidence)",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:13:42.327403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c14orf80 has been classified as Green List (High Evidence).",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:13:26.618734+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C14orf80: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842647; Phenotypes: Primary microcephaly, MONDO:0016660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:12:35.929768+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C14orf80 as Green List (high evidence)",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:12:35.920978+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c14orf80 has been classified as Green List (High Evidence).",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:12:15.074372+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C14orf80: Changed rating: GREEN",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:12:08.278207+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C14orf80: Added comment: PMID 30842647 reports another individual with compound heterozygous loss‑of‑function TEDC1 variants (splice and frameshift) causing primary microcephaly, primordial dwarfism and developmental delay. Promote to Green.; Changed publications: 39979680, 38252227, 30842647",
"entity_name": "C14orf80",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:06:33.625723+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBBP7 as ready",
"entity_name": "RBBP7",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:06:33.615476+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbbp7 has been classified as Green List (High Evidence).",
"entity_name": "RBBP7",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:05:59.978462+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRMT1 as ready",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:05:59.971409+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prmt1 has been classified as Green List (High Evidence).",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:05:49.227767+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRMT1 as ready",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:05:49.220653+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prmt1 has been classified as Green List (High Evidence).",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:05:34.846048+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene RBBP7 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-01T17:05:34.792626+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBBP7 was added\ngene: RBBP7 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RBBP7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RBBP7 were set to 39932629; 37843278; 35809576\nPhenotypes for gene: RBBP7 were set to Infertility disorder, MONDO:0005047, RBBP7-related",
"entity_name": "RBBP7",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:05:20.633532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBBP7 as ready",
"entity_name": "RBBP7",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:05:20.623409+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbbp7 has been classified as Green List (High Evidence).",
"entity_name": "RBBP7",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:05:10.158700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RBBP7: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RBBP7",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:04:57.641195+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBBP7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RBBP7",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:04:38.201183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBBP7 as Green List (high evidence)",
"entity_name": "RBBP7",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:04:38.190879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbbp7 has been classified as Green List (High Evidence).",
"entity_name": "RBBP7",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:04:24.369313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBBP7 was added\ngene: RBBP7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RBBP7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: RBBP7 were set to 39932629; 37843278; 35809576\nPhenotypes for gene: RBBP7 were set to Infertility disorder, MONDO:0005047, RBBP7-related\nReview for gene: RBBP7 was set to GREEN\nAdded comment: PMID 35809576, 37843278, 39932629 report 12 individuals from 11 families with X-linked loss-of-function variants presenting with non‑obstructive azoospermia (severe spermatogenic failure), including maturation arrest and, in one family, Leydig cell tumor. Clinical features include small testes, elevated FSH, absence of spermatocytes and infertility. Functional evidence from Drosophila knock‑down and rescue experiments and mouse germ‑cell line knock‑down supports a loss‑of‑function (haploinsufficiency) mechanism. No contradictory evidence has been reported. \nSources: Literature",
"entity_name": "RBBP7",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:03:07.255318+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene PRMT1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-01T17:03:06.944193+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRMT1 was added\ngene: PRMT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PRMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRMT1 were set to 39937650\nPhenotypes for gene: PRMT1 were set to Neurodevelopmental disorder, MONDO:0700092, PRMT1-related",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:02:25.197108+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene PRMT1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-01T17:02:25.039886+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRMT1 was added\ngene: PRMT1 was added to Dystonia - complex. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PRMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRMT1 were set to 39937650\nPhenotypes for gene: PRMT1 were set to Neurodevelopmental disorder, MONDO:0700092, PRMT1-related",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:01:55.901897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRMT1 as ready",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:01:55.894654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prmt1 has been classified as Green List (High Evidence).",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:01:49.672592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRMT1 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder, MONDO:0700092, PRMT1-related",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:01:29.168477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRMT1 as Green List (high evidence)",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:01:29.157392+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prmt1 has been classified as Green List (High Evidence).",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T17:01:14.483370+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia. Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism. \nSources: Literature; to: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia (in two). Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism.\r\n\r\nTwo of the individuals had the same variant, p.Glu291Lys.\r\n\r\nSources: Literature",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:59:13.619886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRMT1 was added\ngene: PRMT1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRMT1 were set to 39937650\nPhenotypes for gene: PRMT1 were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: PRMT1 was set to GREEN\nAdded comment: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia. Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism. \nSources: Literature",
"entity_name": "PRMT1",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:58:14.520501+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC4 as ready",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:58:14.510363+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:58:03.514079+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC4 as ready",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:58:03.503346+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc4 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:57:59.274935+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC4 as Red List (low evidence)",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:57:59.265101+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc4 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:57:33.386192+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "2.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXOSC4: Changed rating: RED",
"entity_name": "EXOSC4",
"entity_type": "gene"
},
{
"created": "2026-01-01T16:55:35.626037+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene EXOSC4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-01T16:55:32.533074+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC4 was added\ngene: EXOSC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: EXOSC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC4 were set to 39009343; 37961665; 36344539\nPhenotypes for gene: EXOSC4 were set to Neurodevelopmental disorder, MONDO:0700092",
"entity_name": "EXOSC4",
"entity_type": "gene"
}
]
}