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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=35",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=33",
"results": [
{
"created": "2026-02-10T13:04:17.240090+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tkt has been classified as Green List (High Evidence).",
"entity_name": "TKT",
"entity_type": "gene"
},
{
"created": "2026-02-10T13:03:47.331457+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TKT was added\ngene: TKT was added to Cataract. Sources: Literature\nMode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TKT were set to 27259054\nPhenotypes for gene: TKT were set to Short stature, developmental delay, and congenital heart defects, MIM#\t617044\nReview for gene: TKT was set to GREEN\nAdded comment: Cataracts are reported as part of this condition. \nSources: Literature",
"entity_name": "TKT",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:58:52.293228+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TELO2 as ready",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:58:52.282732+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: telo2 has been classified as Green List (High Evidence).",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:58:47.982542+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TELO2 as Green List (high evidence)",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:58:47.971545+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: telo2 has been classified as Green List (High Evidence).",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:58:17.968768+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TELO2 was added\ngene: TELO2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TELO2 were set to 37215500; 36797513; 28944240\nPhenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, MIM#\t616954\nReview for gene: TELO2 was set to GREEN\nAdded comment: Multiple individuals reported with cataract as part of the phenotype. \nSources: Literature",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:54:17.642252+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FGF10: Changed mode of inheritance: Other",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:52:57.329607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A8 as ready",
"entity_name": "SLC7A8",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:52:57.322499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a8 has been classified as Red List (Low Evidence).",
"entity_name": "SLC7A8",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:52:35.667379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4278",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SLC7A8 from panel Cataract",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-10T12:52:35.090344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC7A8 was added\ngene: SLC7A8 was added to Mendeliome. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SLC7A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC7A8 were set to 40229141; 31231240\nPhenotypes for gene: SLC7A8 were set to Cataract, MONDO:0005129, SLC7A8-related",
"entity_name": "SLC7A8",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:52:12.471489+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A8 as ready",
"entity_name": "SLC7A8",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:52:12.463080+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a8 has been classified as Red List (Low Evidence).",
"entity_name": "SLC7A8",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:51:53.162432+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC7A8 was added\ngene: SLC7A8 was added to Cataract. Sources: Literature\nMode of inheritance for gene: SLC7A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC7A8 were set to 40229141; 31231240\nPhenotypes for gene: SLC7A8 were set to Cataract, MONDO:0005129, SLC7A8-related\nReview for gene: SLC7A8 was set to RED\nAdded comment: PMID 31231240 reports 2 affected siblings with autosomal recessive congenital bilateral sutural and zonular cataract caused by a homozygous frameshift c.1305del (p.Phe436Serfs*22) that abolishes LAT2 transport activity in HeLa cells. PMID 40229141 reports a single child from an unrelated family with compound heterozygous SLC7A8 variants (c.1017-1G>T splice-site and c.289G>A missense) and cataract; a minigene assay shows exon skipping for the splice variant. No other functional data, one of the variants is homozygous, hence RED rating. \nSources: Literature",
"entity_name": "SLC7A8",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:47:28.980774+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC23A as ready",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:47:28.974129+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec23a has been classified as Green List (High Evidence).",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:45:58.839847+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC23A as Green List (high evidence)",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:45:58.829594+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec23a has been classified as Green List (High Evidence).",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:45:28.551486+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC23A was added\ngene: SEC23A was added to Cataract. Sources: Literature\nMode of inheritance for gene: SEC23A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SEC23A were set to 38275611; 37828500; 34580982\nPhenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, MIM#\t607812\nReview for gene: SEC23A was set to GREEN\nAdded comment: Cataracts are reported in individuals with both dominant and recessive disease, but appear more common in recessive disease. \nSources: Literature",
"entity_name": "SEC23A",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:38:57.594610+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRAGA as ready",
"entity_name": "RRAGA",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:38:57.587418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rraga has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRAGA",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:37:37.625434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4277",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene RRAGA from panel Cataract",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-10T12:37:36.539649+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRAGA was added\ngene: RRAGA was added to Mendeliome. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: RRAGA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RRAGA were set to 27294265\nPhenotypes for gene: RRAGA were set to Cataract, MONDO:0005129, RRAGA-related",
"entity_name": "RRAGA",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:37:14.809103+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRAGA as ready",
"entity_name": "RRAGA",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:37:14.802483+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rraga has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRAGA",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:37:08.820084+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRAGA as Amber List (moderate evidence)",
"entity_name": "RRAGA",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:37:08.813086+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rraga has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRAGA",
"entity_type": "gene"
},
{
"created": "2026-02-10T12:36:40.930390+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRAGA was added\ngene: RRAGA was added to Cataract. Sources: Literature\nMode of inheritance for gene: RRAGA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RRAGA were set to 27294265\nPhenotypes for gene: RRAGA were set to Cataract, MONDO:0005129, RRAGA-related\nReview for gene: RRAGA was set to AMBER\nAdded comment: PMID 27294265 reports 11 individuals from 3 unrelated families with heterozygous RRAGA variants presenting with autosomal dominant cataracts (juvenile-onset progressive posterior subcapsular cataract in 10 patients from 2 families; congenital nuclear cataract in 1 patient). The missense p.Leu60Arg co‑segregates with disease (LOD 2.975) and activates mTORC1 signalling in lens epithelial cells; the 5′‑UTR c.-16G>A reduces promoter activity (~80%). The missense variant is present in one of the multiplex families and in an independent individual -- appears that the two families are not related and these are independent events.\r\n\r\nNevertheless, two variants only and no direct functional work to link to cataract pathogenesis, hence Amber rating. \nSources: Literature",
"entity_name": "RRAGA",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:52:36.938866+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RECQL4 as ready",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:52:36.932073+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Green List (High Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:52:33.279378+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RECQL4 as Green List (high evidence)",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:52:33.269182+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Green List (High Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:52:04.067893+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RECQL4 was added\ngene: RECQL4 was added to Cataract. Sources: Literature\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RECQL4 were set to 40485636; 37228773; 36164748; 33294214\nPhenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2, MIM#\t268400\nReview for gene: RECQL4 was set to GREEN\nAdded comment: Cataract is a feature of RTS. \nSources: Literature",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:49:39.054413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRX were changed from Charcot-Marie-Tooth disease type 4 MONDO:0018995 to Charcot-Marie-Tooth disease type 4 MONDO:0018995; Cataract, MONDO:0005129, PRX-related",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:49:24.125972+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRX were set to 11133365; 11157804; 15197604; 21079185; 22847150; 10839370; 32460404; 31523542; 31426691",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:48:35.517470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRX: Added comment: PMIDs 27081207 (3 patients, 1 family), 36161833 (1 patient, 1 family) and 41230902 (7 patients, 4 families) report heterozygous PRX missense and splice‑site variants segregating with autosomal dominant congenital cataract. This association appears distinct from the association with CMT. PMID 41230902 specifically has splice‑region variants in the final intron of PRXb, and suggests GoF or dominant negative mechanism.; Changed publications: 11133365, 11157804, 15197604, 21079185, 22847150, 10839370, 32460404, 31523542, 31426691, 27081207, 36161833, 41230902; Changed phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900, Cataract, MONDO:0005129, PRX-related",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:47:35.022931+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRX as ready",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:47:35.015508+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prx has been classified as Green List (High Evidence).",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:47:30.895472+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRX as Green List (high evidence)",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:47:30.885322+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prx has been classified as Green List (High Evidence).",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:47:02.583281+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRX was added\ngene: PRX was added to Cataract. Sources: Literature\nMode of inheritance for gene: PRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRX were set to 41230902; 36161833; 27081207\nPhenotypes for gene: PRX were set to Cataract, MONDO:0005129, PRX-related\nReview for gene: PRX was set to GREEN\nAdded comment: PMIDs 27081207 (3 patients, 1 family), 36161833 (1 patient, 1 family) and 41230902 (7 patients, 4 families) report heterozygous PRX missense and splice‑site variants segregating with autosomal dominant congenital cataract. This association appears distinct from the association with CMT. PMID 41230902 specifically has splice‑region variants in the final intron of PRXb, and suggests GoF or dominant negative mechanism. \nSources: Literature",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:08:54.741016+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.174",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: RUNDC1 was added\ngene: RUNDC1 was added to Pituitary hormone deficiency. Sources: Other\nMode of inheritance for gene: RUNDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RUNDC1 were set to Neurodevelopmental disorder with pituitary anomalies\nAdded comment: Unpublished, cohort from GeneMatcher with biallelic variants in infants with panhypopit and dev delay. \r\nDr. Adam Jackson and Dr. Siddharth Banka (Manchester putting cohort together) \nSources: Other",
"entity_name": "RUNDC1",
"entity_type": "gene"
},
{
"created": "2026-02-10T11:07:48.748146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4274",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: RUNDC1 was added\ngene: RUNDC1 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: RUNDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RUNDC1 were set to Neurodevelopmental disorder with pituitary anomalies\nReview for gene: RUNDC1 was set to AMBER\nAdded comment: Unpublished, cohort from GeneMatcher with biallelic variants in infants with panhypopit and dev delay. \r\nDr. Adam Jackson and Dr. Siddharth Banka (Manchester putting cohort together) \nSources: Other",
"entity_name": "RUNDC1",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:59:06.440788+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT1 as ready",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:59:06.430169+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:59:02.445068+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POMGNT1 as Green List (high evidence)",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:59:02.437936+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:58:33.704815+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMGNT1 was added\ngene: POMGNT1 was added to Cataract. Sources: Literature\nMode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMGNT1 were set to 38137617; 28765568\nPhenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3\t253280\nReview for gene: POMGNT1 was set to GREEN\nAdded comment: Cataracts are a feature of the more severe end of the spectrum of disease associated with this gene. \nSources: Literature",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:56:14.582106+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PARK7 as ready",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:56:14.574447+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: park7 has been classified as Green List (High Evidence).",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:56:10.972406+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PARK7 as Green List (high evidence)",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:56:10.962102+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: park7 has been classified as Green List (High Evidence).",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:55:40.744299+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PARK7 was added\ngene: PARK7 was added to Cataract. Sources: Literature\nMode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PARK7 were set to 40127637; 31028127; 27460976\nPhenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset, MIM#\t606324\nReview for gene: PARK7 was set to GREEN\nAdded comment: PMID 27460976, 31028127 and 40127637 report a total of 3 individuals from 3 unrelated families with autosomal recessive PARK7 loss‑of‑function variants presenting with early‑onset Parkinson disease and bilateral cataracts (often accompanied by hearing loss and distal spinal amyotrophy). Functional studies in patient fibroblasts demonstrate reduced DJ‑1 protein and mitochondrial dysfunction. \nSources: Literature",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:49:35.329408+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOD2 as ready",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:49:35.321537+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nod2 has been classified as Green List (High Evidence).",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:48:55.054929+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOD2 as Green List (high evidence)",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:48:55.037228+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nod2 has been classified as Green List (High Evidence).",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:48:26.419124+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOD2 was added\ngene: NOD2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NOD2 were set to 38180755\nPhenotypes for gene: NOD2 were set to Blau syndrome, MIM#\t186580\nReview for gene: NOD2 was set to GREEN\nAdded comment: PMID 38180755 reports 13 individuals from 3 unrelated families (plus 8 sporadic cases) with Blau syndrome caused by heterozygous gain‑of‑function NOD2 variants; 8 patients required cataract surgery. \nSources: Literature",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:45:30.724159+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MVK as ready",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:45:30.714268+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mvk has been classified as Green List (High Evidence).",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:45:26.800136+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MVK as Green List (high evidence)",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:45:26.792973+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mvk has been classified as Green List (High Evidence).",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:44:58.783164+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MVK was added\ngene: MVK was added to Cataract. Sources: Literature\nMode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MVK were set to 33917151\nPhenotypes for gene: MVK were set to Mevalonic aciduria, MIM#\t610377\nReview for gene: MVK was set to GREEN\nAdded comment: PMID 33917151 reports on a large cohort of individuals with MVK-related disease in an attempt to establish genotype-phenotype correlations. This includes 15 individuals with homozygous missense MVK variants (p.Leu264Phe, p.Ala334Thr) presenting with cataract. All seven patients homozygous for p.Leu264Phe had cataract and 13 of 15 cataract patients carried either p.Leu264Phe or p.Ala334Thr. \nSources: Literature",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2026-02-10T10:39:51.736337+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MT-TP from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-10T10:39:51.576928+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MT-TP was added\ngene: MT-TP was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Red,Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-TP.\nMode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL\nPublications for gene: MT-TP were set to 7689388; 11196116; 19223931; 23696415; 19273760; 27536729; 27816331; 32305257; 32419253\nPhenotypes for gene: MT-TP were set to Mitochondrial disease (MONDO:0044970), MT-TP-related",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2026-02-10T09:43:52.165027+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.394",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "reviewed gene: WDR11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2026-02-10T09:43:21.662126+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.394",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "reviewed gene: FGF8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2026-02-10T09:42:42.358480+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.394",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2026-02-10T09:41:28.815381+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.394",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "reviewed gene: KISS1R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KISS1R",
"entity_type": "gene"
},
{
"created": "2026-02-10T09:40:42.082010+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.394",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "reviewed gene: PROK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PROK2",
"entity_type": "gene"
},
{
"created": "2026-02-10T09:36:25.537654+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.394",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "reviewed gene: SEMA3A: Rating: RED; Mode of pathogenicity: None; Publications: PMID:22416012, 22927827, 32060892, 31200363, 33819414; Phenotypes: hypogonadotropic hypogonadism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2026-02-10T09:26:45.463239+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.394",
"user_name": "Elena Tucker",
"item_type": "entity",
"text": "gene: TYMP was added\ngene: TYMP was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TYMP were set to PMID: 41163431; PMID: 35341481\nPhenotypes for gene: TYMP were set to Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE); POI; MITOCHONDRIAL DNA DEPLETION SYNDROME 1\nPenetrance for gene: TYMP were set to Complete\nReview for gene: TYMP was set to AMBER\nAdded comment: Two independent cases of POI in the literature associated with pathogenic TYMP variants and MNGIE disease (and additionally, cases of hypergonadotropic hypogonadism in males). Mitochondrial depletion is a known mechanism for POI. POI can present before overt neurological involvement. \nSources: Literature",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2026-02-10T06:58:27.575203+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.29",
"user_name": "Jorune Balciuniene",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\nAlmost complete penetrance for loss of function variants, incomplete penetrance for missense variants. Variable expressivity \nSources: Expert Review; to: Well established gene-disease association.\r\nAlmost complete penetrance for loss of function variants, incomplete penetrance for missense variants. Variable expressivity \r\nThe standard of care is corticosteroid treatment, recommended in children at age 12 months or older, and red blood cell transfusions. The only curative therapy is bone marrow transplantation\r\n\r\nSources: Expert Review",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2026-02-10T06:52:31.896075+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.29",
"user_name": "Jorune Balciuniene",
"item_type": "entity",
"text": "gene: RPS19 was added\ngene: RPS19 was added to Genomic newborn screening: ICoNS. Sources: Expert Review\nMode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPS19 were set to 20301769; 30503522\nPhenotypes for gene: RPS19 were set to Diamond-Blackfan Anemia\nReview for gene: RPS19 was set to GREEN\nAdded comment: Well established gene-disease association.\r\nAlmost complete penetrance for loss of function variants, incomplete penetrance for missense variants. Variable expressivity \nSources: Expert Review",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2026-02-10T06:21:19.837802+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZAP70 as ready",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2026-02-10T06:21:19.830504+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zap70 has been classified as Green List (High Evidence).",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2026-02-10T06:21:15.439427+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZAP70 as Green List (high evidence)",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2026-02-10T06:21:15.432543+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zap70 has been classified as Green List (High Evidence).",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2026-02-10T06:21:05.369858+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency MIM#176947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2026-02-09T21:51:28.149449+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.28",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: ZAP70 was added\ngene: ZAP70 was added to Genomic newborn screening: ICoNS. Sources: Expert List\nMode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZAP70 were set to PMID: 20301777; 32579701\nPhenotypes for gene: ZAP70 were set to Immunodeficiency MIM#176947\nReview for gene: ZAP70 was set to GREEN\nAdded comment: •\tGene disease association evidence\r\n•\tCuration by ClinGen \r\n•\tTreatability and evidence behind that including impact of treatment \r\n•\tIssues with genomic screening (exome/genome/pseudogene etc) \r\n•\tAny variants of interest \r\n•\tWho has excluded it and why \r\n•\tTraditional newborn screening in any jurisdiction\r\n\r\n\r\nStrong gene disease association: definitive by ClinGen 2022\r\n\r\nImmunodeficiency characterized by selective T-cell defect\r\n\r\nChildhood onset, severe (death prior to 2 without treatment)\r\n\r\nTreatment:\r\nSupportive care includes immediate intravenous immunoglobulin (IVIG) and antibacterial, antifungal, antiviral, and Pneumocystis jiroveci prophylaxis to control and reduce the occurrence of infections.\r\nAllogeneic HSCT to reconstitute the immune system, preferably prior to the onset of infections.\r\nPrevention of secondary complications: Use of irradiated, leukoreduced, cytomegalovirus (CMV)-safe blood products; deferment of immunizations until immune reconstitution; consideration for formula feeds in place of breast feeding until CMV status of mother is known.\r\n\r\nSymptoms include recurrent infections, including severe lower respiratory infections and oral candidiasis, chronic diarrhea, and failure to thrive. Combined immunodeficiencies such as ZAP-70 deficiency or major histocompatibility complex (MHC) class I and II gene expression deficiency may not be detected with the TREC assay as T-cell development is intact beyond the point of T-cell receptor (TCR) gene recombination (PMID: 32579701)\r\n\r\nExcluded by BeginNGS? treatability ?now included (on Rx Genes) \nSources: Expert List",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2026-02-09T12:11:28.989698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4273",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: SCAMP5 were changed from Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related; Epilepsy (MONDO:0005027), SCAMP5-related",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2026-02-09T12:11:14.548723+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4272",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: SCAMP5 were set to 31439720; 33390987",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2026-02-09T12:10:58.497949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4271",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCAMP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2026-02-09T12:10:39.410569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4270",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: SCAMP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 32020363; Phenotypes: Epilepsy (MONDO:0005027), SCAMP5-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2026-02-09T11:08:45.239222+11:00",
"panel_name": "Kidneyome_SuperPanel",
"panel_id": 275,
"panel_version": "9.170",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Renal Ciliopathies and Nephronophthisis; Renal Tubulopathies and related disorders; Hypertension and Aldosterone disorders; Renal Tubulointerstitial Disease; Haematuria_Alport; Amyloidosis; Proteinuria; Congenital anomalies of the kidney and urinary tract (CAKUT); Renal Macrocystic Disease; Atypical Haemolytic Uraemic Syndrome_MPGN",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-09T10:59:25.738525+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBTPS1 as ready",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2026-02-09T10:59:25.705854+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps1 has been classified as Green List (High Evidence).",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2026-02-09T10:59:20.646299+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MBTPS1 as Green List (high evidence)",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2026-02-09T10:59:20.637910+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps1 has been classified as Green List (High Evidence).",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2026-02-09T10:58:50.743557+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MBTPS1 was added\ngene: MBTPS1 was added to Cataract. Sources: Literature\nMode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MBTPS1 were set to 38337829; 38135440; 36714646; 35362222; 32420688\nPhenotypes for gene: MBTPS1 were set to CAOP syndrome, MIM#\t621252; Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM#\t618392\nReview for gene: MBTPS1 was set to GREEN\nAdded comment: PMID 32420688, 35362222, 36714646, 38135440 and 38337829 collectively report six unrelated families with biallelic loss‑of‑function MBTPS1 variants causing (i) a spondyloepimetaphyseal/spondyloepiphyseal dysplasia with congenital cataract, (ii) CAOP syndrome (cataract, alopecia, oral mucosal disorder, psoriasis‑like skin disease). \nSources: Literature",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2026-02-09T09:32:53.060607+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene FGF10 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-09T09:31:44.511156+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4270",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FGF10: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2026-02-09T09:31:28.329622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4270",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.; to: Amber for biallelic - 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2026-02-09T09:31:11.907594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4270",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FGF10: Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2026-02-09T09:30:24.507569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4270",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FGF10: Added comment: 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.; Changed rating: AMBER; Changed publications: 30639323; Changed phenotypes: Familial primary pulmonary hypoplasia, MONDO:0009936; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2026-02-08T19:59:02.561213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4270",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RPL23 from panel Haematological malignancies",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-08T19:59:00.987763+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4270",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPL23 was added\ngene: RPL23 was added to Mendeliome. Sources: Expert Review Red,Curated sources\nMode of inheritance for gene: RPL23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPL23 were set to 28297620\nPhenotypes for gene: RPL23 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)",
"entity_name": "RPL23",
"entity_type": "gene"
},
{
"created": "2026-02-08T18:26:16.049310+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1109 as ready",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2026-02-08T18:26:16.038945+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1109 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1109",
"entity_type": "gene"
}
]
}