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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=217",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=215",
"results": [
{
"created": "2025-05-30T15:47:58.585121+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KITLG as Green List (high evidence)",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:47:58.578114+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kitlg has been classified as Green List (High Evidence).",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:47:42.155999+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IKBKG as ready",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:47:42.148228+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:47:38.466376+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IKBKG as Green List (high evidence)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:47:38.456769+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:47:20.942741+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GPNMB as ready",
"entity_name": "GPNMB",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:47:20.935492+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpnmb has been classified as Green List (High Evidence).",
"entity_name": "GPNMB",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:46:55.743857+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GPNMB as Green List (high evidence)",
"entity_name": "GPNMB",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:46:55.733682+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpnmb has been classified as Green List (High Evidence).",
"entity_name": "GPNMB",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:46:25.039058+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERCC5 as ready",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:46:25.030388+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Green List (High Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:46:21.739549+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERCC5 as Green List (high evidence)",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:46:21.728977+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Green List (High Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:46:12.434721+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERCC4 as ready",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:46:12.424612+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:46:09.022609+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERCC4 as Green List (high evidence)",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:46:09.015616+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:45:58.210244+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERCC3 as ready",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:45:58.203444+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc3 has been classified as Green List (High Evidence).",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:45:55.534543+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERCC3 as Green List (high evidence)",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:45:55.520439+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc3 has been classified as Green List (High Evidence).",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:45:45.807246+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERCC2 as ready",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:45:45.799762+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:45:43.439067+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERCC2 as Green List (high evidence)",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:45:43.429193+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:45:32.570075+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PRKAR1A as ready",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:45:32.562833+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prkar1a has been classified as Green List (High Evidence).",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:45:29.116320+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRKAR1A as Green List (high evidence)",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:45:29.106706+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prkar1a has been classified as Green List (High Evidence).",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:45:21.705166+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRKAR1A was added\ngene: PRKAR1A was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKAR1A were set to 10973256; 11115848; 12424709; 21651393\nPhenotypes for gene: PRKAR1A were set to Carney complex, type 1\tMONDO:0008057\nReview for gene: PRKAR1A was set to GREEN\ngene: PRKAR1A was marked as current diagnostic\nAdded comment: Profuse pigmented skin lesions are a feature of the condition. \nSources: Expert list",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:41:53.125535+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERCC1 as ready",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:41:53.118381+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc1 has been classified as Green List (High Evidence).",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:41:45.237424+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERCC1 as Green List (high evidence)",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:41:45.218489+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc1 has been classified as Green List (High Evidence).",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:41:34.639462+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DKC1 as ready",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:41:34.632029+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Green List (High Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:41:29.225037+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DKC1 as Green List (high evidence)",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:41:29.217904+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Green List (High Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:41:15.133111+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DDB2 as ready",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:41:15.125890+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ddb2 has been classified as Green List (High Evidence).",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:41:10.375099+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DDB2 as Green List (high evidence)",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:41:10.365390+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ddb2 has been classified as Green List (High Evidence).",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:40:59.158481+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ADAR as ready",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:40:59.151383+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adar has been classified as Green List (High Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:40:55.837607+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ADAR as Green List (high evidence)",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:40:55.828928+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adar has been classified as Green List (High Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:40:34.984486+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ADAM10 as ready",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:40:34.977036+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adam10 has been classified as Green List (High Evidence).",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:40:32.883182+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ADAM10 as Green List (high evidence)",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:40:32.876100+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adam10 has been classified as Green List (High Evidence).",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:40:09.733405+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ACD as ready",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:40:09.723700+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acd has been classified as Green List (High Evidence).",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:39:56.920426+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACD as Green List (high evidence)",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:39:56.911670+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acd has been classified as Green List (High Evidence).",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:39:44.186447+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ABCB6 as ready",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:39:44.179611+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcb6 has been classified as Green List (High Evidence).",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:39:30.493526+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ABCB6 as Green List (high evidence)",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:39:30.487270+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcb6 has been classified as Green List (High Evidence).",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:34:14.347547+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2602",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ADAM10 as ready",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:34:14.340885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2602",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adam10 has been classified as Green List (High Evidence).",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:34:07.389594+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADAM10 was added\ngene: ADAM10 was added to Hereditary Pigmentary Disorders. Sources: Literature\nMode of inheritance for gene: ADAM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADAM10 were set to 23666529; 30488468\nPhenotypes for gene: ADAM10 were set to reticulate acropigmentation of Kitamura MONDO:0014234",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:33:46.204251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2602",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ADAM10 as Green List (high evidence)",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:33:46.193363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2602",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adam10 has been classified as Green List (High Evidence).",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:33:15.782901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2601",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADAM10 was added\ngene: ADAM10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADAM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADAM10 were set to 23666529; 30488468\nPhenotypes for gene: ADAM10 were set to reticulate acropigmentation of Kitamura\tMONDO:0014234\nReview for gene: ADAM10 was set to GREEN\nAdded comment: Reticulate acropigmentation of Kitamura (RAK) is a rare genetic disorder of cutaneous pigmentation. >5 families have been reported. Loss of function is the reported mechanism of disease. \nSources: Literature",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:32:05.195239+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.3",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: ARF1 was added\ngene: ARF1 was added to Autoinflammatory Disorders. Sources: Literature\nMode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARF1 were set to PMID: 37914730\nPhenotypes for gene: ARF1 were set to Interferonopathy\nReview for gene: ARF1 was set to GREEN\nAdded comment: Developmental delay and skin lesions resembling familial chilblain lupus. Functional studies demonstrating aberrant type 1 interferon signalling. Included in IUIS panel of autoinflammatory disorders. \nSources: Literature",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:22:16.209142+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPNMB was added\ngene: GPNMB was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: GPNMB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPNMB were set to 29336782\nPhenotypes for gene: GPNMB were set to amyloidosis, primary localized cutaneous, 3 MONDO:0054765",
"entity_name": "GPNMB",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:20:53.509131+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PSENEN was added\ngene: PSENEN was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSENEN were set to 20929727; 21412258; 27900998\nPhenotypes for gene: PSENEN were set to Dowling-Degos disease MONDO:0008371",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:19:35.171450+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POGLUT1 was added\ngene: POGLUT1 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: POGLUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POGLUT1 were set to 24387993\nPhenotypes for gene: POGLUT1 were set to Dowling-Degos disease MONDO:0008371",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:17:45.879196+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POFUT1 was added\ngene: POFUT1 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: POFUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POFUT1 were set to 23684010; 29452367; 25157627\nPhenotypes for gene: POFUT1 were set to Dowling-Degos disease\tMONDO:0008371",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:15:28.635208+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT5 was added\ngene: KRT5 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT5 were set to 16465624\nPhenotypes for gene: KRT5 were set to Dowling-Degos disease MONDO:0008371",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:11:20.119547+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WRAP53 was added\ngene: WRAP53 was added to Hereditary Pigmentary Disorders. Sources: Literature\nMode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WRAP53 were set to 21205863; 32303682; 29514627\nPhenotypes for gene: WRAP53 were set to Dyskeratosis congenita MONDO:0015780",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:09:21.469552+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TINF2 was added\ngene: TINF2 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TINF2 were set to 18252230; 21477109; 18979121; 18669893; 21199492; 33097095\nPhenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 MONDO:0013522",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:07:39.000550+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TERT was added\ngene: TERT was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: TERT were set to 16247010; 15814878\nPhenotypes for gene: TERT were set to Dyskeratosis congenita MONDO:0015780",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:05:12.705386+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TERC was added\ngene: TERC was added to Hereditary Pigmentary Disorders. Sources: Literature\nMode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TERC were set to 11574891\nPhenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1 MONDO:0007485",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2025-05-30T15:02:05.484014+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RTEL1 was added\ngene: RTEL1 was added to Hereditary Pigmentary Disorders. Sources: Literature\nMode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: RTEL1 were set to 20301779; 23329068; 15210109; 23453664; 19461895; 25848748; 25607374\nPhenotypes for gene: RTEL1 were set to dyskeratosis congenita MONDO:0015780",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:59:42.995201+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPA1 was added\ngene: RPA1 was added to Hereditary Pigmentary Disorders. Sources: Literature\nMode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPA1 were set to 34767620\nPhenotypes for gene: RPA1 were set to pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 MONDO:0030690",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:58:33.977243+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.10",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: PTPN2 was added\ngene: PTPN2 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN2 were set to PMID: 39028869\nPhenotypes for gene: PTPN2 were set to Evans syndrome; SLE\nPenetrance for gene: PTPN2 were set to Incomplete\nReview for gene: PTPN2 was set to GREEN\nAdded comment: Six patients from six unrelated families variably associated with the development of SLE in one family and Evans syndrome in five families. Previously reported cases presented with common variable immunodeficiency and two others with inflammatory bowel disease. The molecular and functional analyses of PTPN2 variants demonstrated that defects in negative regulation of downstream cytokines promote autoimmune manifestations. \nSources: Literature",
"entity_name": "PTPN2",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:55:57.666568+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PARN was added\ngene: PARN was added to Hereditary Pigmentary Disorders. Sources: Literature\nMode of inheritance for gene: PARN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: PARN were set to 30525901; 25893599; 25848748; 31448843\nPhenotypes for gene: PARN were set to Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 MONDO:0014612",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:53:13.243184+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NOP10 was added\ngene: NOP10 was added to Hereditary Pigmentary Disorders. Sources: Literature\nMode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NOP10 were set to 17507419; 32554502; 32139460\nPhenotypes for gene: NOP10 were set to dyskeratosis congenita, autosomal recessive 1 MONDO:0009136",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:50:47.854899+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NHP2 was added\ngene: NHP2 was added to Hereditary Pigmentary Disorders. Sources: Literature\nMode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NHP2 were set to 18523010; 31985013\nPhenotypes for gene: NHP2 were set to dyskeratosis congenita, autosomal recessive 2 MONDO:0013519",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:46:18.822200+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DKC1 was added\ngene: DKC1 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: DKC1 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: DKC1 were set to 31269755; 26951492; 29081935; 25940403\nPhenotypes for gene: DKC1 were set to dyskeratosis congenita, X-linked MONDO:0010584",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:37:34.290069+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACD was added\ngene: ACD was added to Hereditary Pigmentary Disorders. Sources: Literature\nMode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ACD were set to 27807141; 31515401; 30995915; 27528712; 25205116; 24316971; 30064976; 33446513; 25233904\nPhenotypes for gene: ACD were set to ACD-related short telomere syndrome MONDO:0100569",
"entity_name": "ACD",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:30:45.846927+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT14 was added\ngene: KRT14 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT14 were set to 16960809; 18049449\nPhenotypes for gene: KRT14 were set to dermatopathia pigmentosa reticularis MONDO:0007445",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:26:47.793691+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IKBKG was added\ngene: IKBKG was added to Hereditary Pigmentary Disorders. Sources: Expert list\ntechnically challenging tags were added to gene: IKBKG.\nMode of inheritance for gene: IKBKG 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: IKBKG were set to 31874111; 35289316\nPhenotypes for gene: IKBKG were set to Incontinentia pigmenti MONDO:0010631",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:25:13.725844+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2600",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: IKBKG.",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:21:44.702381+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: XPC was added\ngene: XPC was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XPC were set to 10447254\nPhenotypes for gene: XPC were set to xeroderma pigmentosum group C MONDO:0010211",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:17:54.027040+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POLH was added\ngene: POLH was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLH were set to 10385124; 10398605\nPhenotypes for gene: POLH were set to Xeroderma pigmentosum variant type MONDO:0010214",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:17:15.355199+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FIGLA was added\ngene: FIGLA was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FIGLA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FIGLA were set to 18499083; 29914564; 30474133; 34778283\nPhenotypes for gene: FIGLA were set to Premature ovarian failure 6, MIM# 612310\nReview for gene: FIGLA was set to GREEN\nAdded comment: Literature in OMIM- PubMed:18499083; 29914564; 30474133\r\n\r\nNew paper: \r\ni) PMID: 34778283- Three different FIGLA heterozygous variants were identified in four patients with POI. Two patients carried the mutation c.11C>A (p.A4E), and the other two patients, respectively, carried the mutations c.625G>A (p.V209I) and c.84C>A (p.D28E). The luciferase reporter assay indicated that ZP1, ZP2, and ZP3 transcriptional activities were significantly reduced in individuals with FIGLA mutations. Chromatin immunoprecipitation indicated that the FIGLA mutation significantly decreased binding with the ZP1, ZP2, and ZP3 promoters.\r\n\r\nDocumented in FeRGI database- strong evidence for POI. \nSources: Literature",
"entity_name": "FIGLA",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:15:13.044025+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC5 was added\ngene: ERCC5 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC5 were set to 30838033; 24700531\nPhenotypes for gene: ERCC5 were set to xeroderma pigmentosum group G MONDO:0010216",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:13:15.075396+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC4 was added\ngene: ERCC4 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC4 were set to 23623386; 8797827; 23623389; 17183314; 29105242\nPhenotypes for gene: ERCC4 were set to xeroderma pigmentosum group F MONDO:0010215",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:11:36.416908+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC3 was added\ngene: ERCC3 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC3 were set to 2167179; 10447254; 16947863; 9012405; 32557569; 27004399\nPhenotypes for gene: ERCC3 were set to xeroderma pigmentosum group B MONDO:0012531",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:09:37.291127+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC2 was added\ngene: ERCC2 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC2 were set to 7849702; 9758621; 11443545; 33733458\nPhenotypes for gene: ERCC2 were set to xeroderma pigmentosum group D MONDO:0010212",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:08:13.140627+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC1 was added\ngene: ERCC1 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC1 were set to 17273966; 23623389; 32557569; 26085086; 33315086\nPhenotypes for gene: ERCC1 were set to cerebrooculofacioskeletal syndrome 4 MONDO:0012554; Xeroderma pigmentosum",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2025-05-30T14:03:47.338381+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DDB2 was added\ngene: DDB2 was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDB2 were set to 33276309; 32530099; 32239545; 32228487\nPhenotypes for gene: DDB2 were set to xeroderma pigmentosum group E MONDO:0010213",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2025-05-30T13:52:47.243515+10:00",
"panel_name": "Hereditary Pigmentary Disorders",
"panel_id": 4457,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: XPA was added\ngene: XPA was added to Hereditary Pigmentary Disorders. Sources: Expert list\nMode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XPA were set to 2234061; 1372102\nPhenotypes for gene: XPA were set to xeroderma pigmentosum group A MONDO:0010210",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2025-05-30T13:25:59.478182+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: NR5A1: Changed publications: 20887963, 19246354, 23918653, 31513305",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2025-05-30T13:25:47.583248+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: NR5A1: Added comment: New review paper on variants associated with male and female infertility- PMID: 31513305\r\n\r\nDocumented in FeRGI database- moderate/definitive evidence for POI.; Changed publications: 20887963, 19246354, 23918653",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2025-05-30T13:24:17.369868+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2025-05-30T13:19:47.657716+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.82",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: NR0B1 was added\ngene: NR0B1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: NR0B1 were set to 12519885; 23384712; 26207377\nPhenotypes for gene: NR0B1 were set to Congenital adrenal hypoplasia, #MIM 300200\nReview for gene: NR0B1 was set to GREEN\nAdded comment: Absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients.\r\n- Literature in OMIM: PubMed: 12519885; 23384712; 26207377 \nSources: Literature",
"entity_name": "NR0B1",
"entity_type": "gene"
}
]
}