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{
"count": 220505,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=110",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=108",
"results": [
{
"created": "2025-11-27T22:13:11.807105+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.35",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene PMVK from panel Ichthyosis",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T22:12:18.854232+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PMVK as ready",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2025-11-27T22:12:18.844281+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pmvk has been classified as Green List (High Evidence).",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2025-11-27T22:12:09.060362+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PMVK as Green List (high evidence)",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2025-11-27T22:12:09.052010+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pmvk has been classified as Green List (High Evidence).",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2025-11-27T22:11:50.905668+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: MVK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2025-11-27T22:11:10.719692+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PMVK was added\ngene: PMVK was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PMVK were set to 41240373; 26202976\nPhenotypes for gene: PMVK were set to porokeratosis 1, Mibelli type MONDO:0008290\nReview for gene: PMVK was set to GREEN\ngene: PMVK was marked as current diagnostic\nAdded comment: Well-established gene-disease association. Loss of function is the mechanism of disease. Characterised as an autoinflammatory keratinisation disease. \nSources: Literature",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2025-11-27T22:07:44.130766+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.33",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene MVK from panel Ichthyosis",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T22:06:49.555864+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MVK as ready",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2025-11-27T22:06:49.547774+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mvk has been classified as Green List (High Evidence).",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2025-11-27T22:06:47.130995+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MVK as Green List (high evidence)",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2025-11-27T22:06:47.119910+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mvk has been classified as Green List (High Evidence).",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2025-11-27T22:05:47.768522+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MVK was added\ngene: MVK was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: MVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MVK were set to 41240373; 26202976\nPhenotypes for gene: MVK were set to porokeratosis 3, disseminated superficial actinic type MONDO:0008293\nReview for gene: MVK was set to GREEN\ngene: MVK was marked as current diagnostic\nAdded comment: Well-established gene-disease association. Loss of function is the mechanism of disease. Characterised as an autoinflammatory keratinisation disease. \nSources: Literature",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2025-11-27T21:57:56.040794+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FDPS from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T21:57:55.875310+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FDPS was added\ngene: FDPS was added to Ichthyosis. Sources: Expert Review Green,Literature\nMode of inheritance for gene: FDPS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FDPS were set to 26202976; 30561051; 38283795; 41240373\nPhenotypes for gene: FDPS were set to porokeratosis 9, multiple types MONDO:0014713",
"entity_name": "FDPS",
"entity_type": "gene"
},
{
"created": "2025-11-27T21:57:19.129357+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.32",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FDPS from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T21:57:18.944339+11:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FDPS was added\ngene: FDPS was added to Autoinflammatory Disorders. Sources: Expert Review Green,Literature\nMode of inheritance for gene: FDPS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FDPS were set to 26202976; 30561051; 38283795; 41240373\nPhenotypes for gene: FDPS were set to porokeratosis 9, multiple types MONDO:0014713",
"entity_name": "FDPS",
"entity_type": "gene"
},
{
"created": "2025-11-27T21:49:24.139441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3698",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FDPS as ready",
"entity_name": "FDPS",
"entity_type": "gene"
},
{
"created": "2025-11-27T21:49:24.127899+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3698",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fdps has been classified as Green List (High Evidence).",
"entity_name": "FDPS",
"entity_type": "gene"
},
{
"created": "2025-11-27T21:49:16.349243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3698",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FDPS as Green List (high evidence)",
"entity_name": "FDPS",
"entity_type": "gene"
},
{
"created": "2025-11-27T21:49:16.338418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3698",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fdps has been classified as Green List (High Evidence).",
"entity_name": "FDPS",
"entity_type": "gene"
},
{
"created": "2025-11-27T21:48:57.092926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3697",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FDPS was added\ngene: FDPS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FDPS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FDPS were set to 26202976; 30561051; 38283795; 41240373\nPhenotypes for gene: FDPS were set to porokeratosis 9, multiple types MONDO:0014713\nReview for gene: FDPS was set to GREEN\nAdded comment: PMID 26202976 reports 4 individuals from 4 families with autosomal dominant loss‑of‑function FDPS variants causing extensive porokeratosis; PMID 30561051 adds 2 affected individuals from 1 family with disseminated superficial actinic porokeratosis; PMID 38283795 describes a single case of disseminated superficial porokeratosis; and PMID 41240373 reviews 22 individuals from the literature and an additional 3 families, with disseminated superficial actinic porokeratosis / disseminated superficial porokeratosis and genital porokeratosis. \nSources: Literature",
"entity_name": "FDPS",
"entity_type": "gene"
},
{
"created": "2025-11-27T17:46:36.762641+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC26A1 as ready",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2025-11-27T17:46:36.754690+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2025-11-27T17:46:21.072511+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SLC26A1.",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2025-11-27T15:54:03.477642+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HELB as ready",
"entity_name": "HELB",
"entity_type": "gene"
},
{
"created": "2025-11-27T15:54:03.464799+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: helb has been classified as Amber List (Moderate Evidence).",
"entity_name": "HELB",
"entity_type": "gene"
},
{
"created": "2025-11-27T15:53:53.911820+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HELB as ready",
"entity_name": "HELB",
"entity_type": "gene"
},
{
"created": "2025-11-27T15:53:53.899520+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: helb has been classified as Amber List (Moderate Evidence).",
"entity_name": "HELB",
"entity_type": "gene"
},
{
"created": "2025-11-27T15:53:16.790369+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene HELB from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T15:53:16.703036+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HELB was added\ngene: HELB was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: HELB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HELB were set to 41212051\nPhenotypes for gene: HELB were set to Premature ovarian failure, MONDO:0019852, HELB-related",
"entity_name": "HELB",
"entity_type": "gene"
},
{
"created": "2025-11-27T15:53:15.190333+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene HELB from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T15:53:14.991471+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HELB was added\ngene: HELB was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: HELB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HELB were set to 41212051\nPhenotypes for gene: HELB were set to Premature ovarian failure, MONDO:0019852, HELB-related",
"entity_name": "HELB",
"entity_type": "gene"
},
{
"created": "2025-11-27T15:52:53.853007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HELB as ready",
"entity_name": "HELB",
"entity_type": "gene"
},
{
"created": "2025-11-27T15:52:53.842909+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: helb has been classified as Amber List (Moderate Evidence).",
"entity_name": "HELB",
"entity_type": "gene"
},
{
"created": "2025-11-27T14:55:47.953453+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3696",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: HELB as Amber List (moderate evidence)",
"entity_name": "HELB",
"entity_type": "gene"
},
{
"created": "2025-11-27T14:55:47.941901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3696",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: helb has been classified as Amber List (Moderate Evidence).",
"entity_name": "HELB",
"entity_type": "gene"
},
{
"created": "2025-11-27T14:55:29.953793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3695",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: HELB was added\ngene: HELB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HELB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HELB were set to 41212051\nPhenotypes for gene: HELB were set to Premature ovarian failure, MONDO:0019852, HELB-related\nReview for gene: HELB was set to AMBER\nAdded comment: PMID: 41212051 reports three individuals from a single family with a heterozygous missense HELB c.349G>T (p.Asp117Tyr) presenting with premature ovarian insufficiency and early menopause. The variant co-segregates with disease across three generations and is absent from population databases. A mouse knock-in model recapitulates the POI phenotype; RNA-seq and transcriptomic analysis showed dysregulation of genes associated with ovarian function in Helb-mutated mice. \nSources: Literature",
"entity_name": "HELB",
"entity_type": "gene"
},
{
"created": "2025-11-27T14:26:29.403230+11:00",
"panel_name": "Hypophosphataemia and rickets",
"panel_id": 122,
"panel_version": "0.50",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel name changed from Hypophosphataemia or rickets to Hypophosphataemia and rickets",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T11:37:31.072188+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.26",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NOS1 as ready",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:37:31.065141+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.26",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nos1 has been classified as Green List (High Evidence).",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:37:27.641024+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3694",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NOS1 as ready",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:37:27.629364+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3694",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nos1 has been classified as Green List (High Evidence).",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:36:49.928360+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.26",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NOS1 as Green List (high evidence)",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:36:49.918749+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.26",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nos1 has been classified as Green List (High Evidence).",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:34:07.832827+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3694",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NOS1 as Green List (high evidence)",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:34:07.824120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3694",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nos1 has been classified as Green List (High Evidence).",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:33:29.561012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3693",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene NOS1 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T11:33:28.947467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3693",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NOS1 was added\ngene: NOS1 was added to Mendeliome. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOS1 were set to 36197968\nPhenotypes for gene: NOS1 were set to Hypogonadotropic hypogonadism, MONDO:0018555",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:33:19.241857+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.78",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NOS1 as Green List (high evidence)",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:33:19.233696+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.78",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nos1 has been classified as Green List (High Evidence).",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:33:15.270124+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.25",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene NOS1 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T11:33:15.076076+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.25",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NOS1 was added\ngene: NOS1 was added to Differences of Sex Development. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOS1 were set to 36197968\nPhenotypes for gene: NOS1 were set to Hypogonadotropic hypogonadism, MONDO:0018555",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:32:19.789049+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.77",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: NOS1 as ready",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:32:19.774015+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.77",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nos1 has been classified as Red List (Low Evidence).",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:32:15.740620+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.77",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NOS1 was added\ngene: NOS1 was added to Pituitary hormone deficiency. Sources: Literature\nMode of inheritance for gene: NOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOS1 were set to 36197968\nPhenotypes for gene: NOS1 were set to Hypogonadotropic hypogonadism, MONDO:0018555\nReview for gene: NOS1 was set to GREEN\nAdded comment: 6 unrelated individuals with congenital hypogonadotropic hypogonadism, anosmia (3/6), hearing loss (2/6), and intellectual disability (1/6). WES identified 5 rare heterozygous missense variants in NOS1 gene. The variant was inherited from an unaffected or partially affected parent in 4 families. \r\n\r\nIn‑vitro assays (Western blot, calcium‑induced NO release, fluorometric nitrate assay, co‑immunoprecipitation) showed loss‑of‑function and dominant‑negative activity. NOS1 was found to be transiently expressed by GnRH neurons in the nose of both humans and mice, and Nos1 deficiency in mice resulted in dose-dependent defects in sexual maturation as well as in olfaction, hearing, and cognition. Inhaled NO treatment at minipuberty rescued both reproductive and behavioral phenotypes in Nos1-deficient mice. \nSources: Literature",
"entity_name": "NOS1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:32:10.811486+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.597",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: COX4I1 as Green List (high evidence)",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:32:10.804093+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.597",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: cox4i1 has been classified as Green List (High Evidence).",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:31:53.541058+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1092",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: COX4I1 as Green List (high evidence)",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:31:53.534463+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1092",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: cox4i1 has been classified as Green List (High Evidence).",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:31:29.120356+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.372",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: COX4I1 as Green List (high evidence)",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:31:29.107922+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.372",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: cox4i1 has been classified as Green List (High Evidence).",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:30:35.659249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3692",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: COX4I1 as Green List (high evidence)",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:30:35.652061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3692",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: cox4i1 has been classified as Green List (High Evidence).",
"entity_name": "COX4I1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:25:34.879647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A9 were changed from Glycine encephalopathy with normal serum glycine, MIM# 617301 to Glycine encephalopathy with normal serum glycine, MIM# 617301; Scoliosis, isolated, susceptibility to, 6, MIM# 621428",
"entity_name": "SLC6A9",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:25:15.525390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC6A9",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:24:52.177305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC6A9: Added comment: 26 patients from 5 families with adolescent idiopathic scoliosis. Plasma glycine concentration measured in 15 patients was elevated compared to that in 36 unaffected controls. In addition, surface electromyography in 2 affected children showed aberrant paraspinal muscle activity, which was not observed in affected adults, suggesting an etiology for the spinal curvature occurring during the developmental period.\r\n\r\nTwo different missense variants reported. Functional studies indicated a dominant negative effect. In zebrafish, mutant glyt1 protein was shown to exhibit dominant-negative effects over the wildtype protein. All slc6A9 hmz m/m fish died by 18 days postfertilization (dpf), whereas about half of the slc6A9 het m/+ fish survived to 30 dpf. Glycine levels were elevated in the slc6A9 m/m fish, and at 7 dpf the majority of the mutant fish had a lateral axial curvature. In addition, some of the slc6A9 m/+ fish also had a lateral axial curvature, which persisted through day 100 dpf. The spinal curvature was rescued by expression of wildtype SLC6A9 but not with expression of SLC6A9 with a Y206F or R662W mutation. Treatment of the slc6A9 m/m fish with benzoate, a glycine neutralizer, moderately improved the curvature phenotype; Changed publications: 27481395, 27773429, 14622582, 33269555, 37962965; Changed phenotypes: Glycine encephalopathy with normal serum glycine, MIM# 617301, Scoliosis, isolated, susceptibility to, 6, MIM# 621428; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC6A9",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:12:56.385363+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 to Ramond-Elliott neurodevelopmental syndrome, MIM# 621421",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:12:19.588484+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MIM# 621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:11:58.421968+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related (MONDO#0700092) to Ramond-Elliott neurodevelopmental syndrome, MIM# 621421",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:11:29.971372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3689",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene GJA5 from panel Congenital Heart Defect",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T11:11:22.002645+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MIM# 621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:11:11.989003+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.505",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: GJA5 as ready",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:11:11.976488+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.505",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gja5 has been classified as Red List (Low Evidence).",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:11:05.075905+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 to Ramond-Elliott neurodevelopmental syndrome, MIM# 621421",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:10:26.551586+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MIM# 621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:09:28.448959+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.505",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: GJA5 was added\ngene: GJA5 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: GJA5.\nMode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GJA5 were set to Congenital heart disease, MONDO:0005453\nReview for gene: GJA5 was set to RED\nAdded comment: ClinGen DISPUTED - Apr 2024 \nSources: ClinGen",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:08:49.905529+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3688",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene HDAC1 from panel Congenital Heart Defect",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T11:08:48.706527+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3688",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HDAC1 was added\ngene: HDAC1 was added to Mendeliome. Sources: Expert Review Red,ClinGen\ndisputed tags were added to gene: HDAC1.\nMode of inheritance for gene: HDAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HDAC1 were set to Congenital heart disease, MONDO:0005453",
"entity_name": "HDAC1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:08:32.192831+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.504",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: HDAC1 as ready",
"entity_name": "HDAC1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:08:32.184538+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.504",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hdac1 has been classified as Red List (Low Evidence).",
"entity_name": "HDAC1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:08:25.013284+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.504",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HDAC1 was added\ngene: HDAC1 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: HDAC1.\nMode of inheritance for gene: HDAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HDAC1 were set to Congenital heart disease, MONDO:0005453\nReview for gene: HDAC1 was set to RED\nAdded comment: ClinGen DISPUTED - Jan 2024 \nSources: ClinGen",
"entity_name": "HDAC1",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:08:15.400173+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.503",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: COL1A2 as ready",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:08:15.389051+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.503",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: col1a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:07:53.384666+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.503",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: COL1A2 was added\ngene: COL1A2 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: COL1A2.\nMode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL1A2 were set to Congenital heart disease, MONDO:0005453\nReview for gene: COL1A2 was set to RED\nAdded comment: ClinGen DISPUTED - Sep 2024 \nSources: ClinGen",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:06:59.434321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 to Ramond-Elliott neurodevelopmental syndrome, MIM# 621421",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:06:37.336099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MIM# 621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:06:00.737764+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.502",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: SCN5A as ready",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:06:00.728957+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.502",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Red List (Low Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:05:42.284141+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.502",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SCN5A was added\ngene: SCN5A was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: SCN5A.\nMode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN5A were set to Congenital heart disease, MONDO:0005453\nReview for gene: SCN5A was set to RED\nAdded comment: ClinGen DISPUTED - Dec 2024 \nSources: ClinGen",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:03:42.048617+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.501",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ID2 was added\ngene: ID2 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: ID2.\nMode of inheritance for gene: ID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ID2 were set to Congenital heart disease, MONDO:0005453\nReview for gene: ID2 was set to RED\nAdded comment: ClinGen DISPUTED - Nov 2023 \nSources: ClinGen",
"entity_name": "ID2",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:03:24.321598+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.501",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ID2 was added\ngene: ID2 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: ID2.\nMode of inheritance for gene: ID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ID2 were set to Congenital heart disease, MONDO:0005453\nReview for gene: ID2 was set to RED\nAdded comment: ClinGen DISPUTED - Nov 2023 \nSources: ClinGen",
"entity_name": "ID2",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:01:28.070216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3686",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene DAND5 from panel Heterotaxy",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T11:00:56.363255+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.500",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DAND5 was added\ngene: DAND5 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: DAND5.\nMode of inheritance for gene: DAND5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DAND5 were set to Congenital heart disease, MONDO:0005453\nReview for gene: DAND5 was set to RED\nAdded comment: ClinGen DISPUTED - Jun 2024 \nSources: ClinGen",
"entity_name": "DAND5",
"entity_type": "gene"
},
{
"created": "2025-11-27T11:00:43.590538+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.500",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DAND5 was added\ngene: DAND5 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: DAND5.\nMode of inheritance for gene: DAND5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DAND5 were set to Congenital heart disease, MONDO:0005453\nReview for gene: DAND5 was set to RED\nAdded comment: ClinGen DISPUTED - Jun 2024 \nSources: ClinGen",
"entity_name": "DAND5",
"entity_type": "gene"
},
{
"created": "2025-11-27T10:59:45.468181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3685",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene UGDH from panel Congenital Heart Defect",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T10:59:40.654647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3684",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene NFATC2 from panel Congenital Heart Defect",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T10:59:24.336351+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3684",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene PROX1 from panel Congenital Heart Defect",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-27T10:59:22.744541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3684",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PROX1 was added\ngene: PROX1 was added to Mendeliome. Sources: Expert Review Red,ClinGen\ndisputed tags were added to gene: PROX1.\nMode of inheritance for gene: PROX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PROX1 were set to Congenital heart disease, MONDO:0005453",
"entity_name": "PROX1",
"entity_type": "gene"
},
{
"created": "2025-11-27T10:58:55.955644+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.499",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Marked gene: PROX1 as ready",
"entity_name": "PROX1",
"entity_type": "gene"
}
]
}