HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220701,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=135",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=133",
"results": [
{
"created": "2025-11-13T12:38:47.600320+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.76",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene SOX3 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:34:36.891026+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.75",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene THRB from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:34:07.098794+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.74",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene THRA from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:33:35.954078+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.73",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene TPO from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:33:03.400291+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.72",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene TSHB from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:32:33.594458+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.71",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene TSHR from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:31:57.195695+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.70",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene TBL1X from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:31:25.476626+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.69",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene SLC5A5 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:30:51.239177+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.68",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene SLC26A7 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:30:22.779098+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.67",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene SLC26A4 from panel Deafness_IsolatedAndComplex",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:29:03.928410+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.66",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene TG from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:28:36.373715+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.65",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: SLC16A2",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2025-11-13T12:28:21.501218+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.65",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene SLC16A2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:26:17.099270+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.64",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene PROP1 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:25:58.579574+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.63",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene PRKAR1A from panel Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:24:31.998573+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.62",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene POU1F1 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:23:58.506186+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.61",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene NKX2-1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:23:22.379481+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.60",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene LHX4 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:22:35.766241+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.59",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene LHX3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:21:54.288143+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.58",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene IYD from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T12:13:55.781809+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.57",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GATA6 as Green List (high evidence)",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2025-11-13T12:13:55.774793+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.57",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gata6 has been classified as Green List (High Evidence).",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2025-11-13T12:13:48.772294+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.56",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene GATA6 were changed from PMID: 31271559, 32207556, 23223019 to PMID: 31271559, 32207556, 23223019",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2025-11-13T12:13:37.971910+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.55",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: GATA6: Added comment: PMID: 23223019 - 4 additional individuals with hypothyroidism along with typical phenotype features; Changed rating: GREEN; Changed publications: 23223019",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:59:30.306322+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene KMT2D from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T11:58:53.277376+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.47",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene KMT2D from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T11:58:15.694277+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.476",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene KMT2D from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T11:57:38.606464+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.279",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene KMT2D from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T11:28:14.576167+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.360",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Marked gene: CCNK as ready",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:28:14.570977+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.360",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: 4 of the reported cases presented with microcephaly",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:28:14.547875+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.360",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Gene: ccnk has been classified as Green List (High Evidence).",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:27:03.297172+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.360",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Copied gene CCNK from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T11:27:03.116502+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.360",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CCNK was added\ngene: CCNK was added to Microcephaly. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CCNK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCNK were set to 41101726; 37597256; 30122539\nPhenotypes for gene: CCNK were set to CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome MONDO:0035775",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:26:06.342946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3542",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Marked gene: CCNK as ready",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:26:06.335424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3542",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Gene: ccnk has been classified as Green List (High Evidence).",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:26:00.229937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3542",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Classified gene: CCNK as Green List (high evidence)",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:26:00.222271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3542",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Gene: ccnk has been classified as Green List (High Evidence).",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:25:44.262654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3541",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: CCNK encodes a regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases.\r\nReported affected individuals presented with a syndromic neurodevelopmental disorder (i.e. DD, ID, language impairment and various dysmorphic features)\r\n7 unrelated families with different de novo variants (missense and CNV, deletion). All variants were either rare for AD gene or absent in gnomAD v4.1.\r\nSupportive functional studies (knockdown zebrafish and mouse model) showed recapitulation of human phenotype and was supportive of LoF as the mechanism of disease \nSources: Literature; to: CCNK encodes a regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases.\r\nReported affected individuals presented with a syndromic neurodevelopmental disorder (i.e. DD, ID, language impairment and various dysmorphic features)\r\n7 unrelated families with different de novo variants (missense and CNV, deletion). All variants were absent in gnomAD v4.1.\r\nSupportive functional studies (knockdown zebrafish and mouse model) showed recapitulation of human phenotype and was supportive of LoF as the mechanism of disease \r\nSources: Literature",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:24:02.753838+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.417",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Marked gene: CCNK as ready",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:24:02.742827+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.417",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Gene: ccnk has been classified as Green List (High Evidence).",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:23:45.701896+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.417",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Classified gene: CCNK as Green List (high evidence)",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:23:45.694476+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.417",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "Gene: ccnk has been classified as Green List (High Evidence).",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:22:56.528889+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.416",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: CCNK encodes a regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases.\r\nReported affected individuals presented with a syndromic neurodevelopmental disorder (i.e. DD, ID, language impairment and various dysmorphic features)\r\n7 unrelated families with different de novo variants (missense and CNV, deletion). All variants were either rare for AD gene or absent in gnomAD v4.1.\r\nSupportive functional studies (knockdown zebrafish and mouse model) showed recapitulation of human phenotype and was supportive of LoF as the mechanism of disease \nSources: Literature; to: CCNK encodes a regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases.\r\nReported affected individuals presented with a syndromic neurodevelopmental disorder (i.e. DD, ID, language impairment and various dysmorphic features)\r\n7 unrelated families with different de novo variants (missense and CNV, deletion). All variants were absent in gnomAD v4.1.\r\nSupportive functional studies (knockdown zebrafish and mouse model) showed recapitulation of human phenotype and was supportive of LoF as the mechanism of disease \r\nSources: Literature",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:17:53.891326+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.416",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Copied gene CCNK from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-13T11:17:53.294159+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.416",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CCNK was added\ngene: CCNK was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CCNK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCNK were set to 41101726; 37597256; 30122539\nPhenotypes for gene: CCNK were set to CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome MONDO:0035775",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-13T11:15:32.832138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3541",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CCNK was added\ngene: CCNK was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCNK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCNK were set to 41101726; 37597256; 30122539\nPhenotypes for gene: CCNK were set to CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome MONDO:0035775\nReview for gene: CCNK was set to GREEN\nAdded comment: CCNK encodes a regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases.\r\nReported affected individuals presented with a syndromic neurodevelopmental disorder (i.e. DD, ID, language impairment and various dysmorphic features)\r\n7 unrelated families with different de novo variants (missense and CNV, deletion). All variants were either rare for AD gene or absent in gnomAD v4.1.\r\nSupportive functional studies (knockdown zebrafish and mouse model) showed recapitulation of human phenotype and was supportive of LoF as the mechanism of disease \nSources: Literature",
"entity_name": "CCNK",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:53:19.385751+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.72",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: FOXA2 were changed from No OMIM number; Congenital hyperinsulinism; Congenital hypopituitarism to Hypopituitarism, MONDO:0005152; Hyperinsulinism, MONDO:0002177\nPublications for gene FOXA2 were changed from 28973288, 29329447, 30414530, 33729509, 31294511, 33999151 to 28973288, 29329447, 30414530, 33729509, 31294511, 33999151",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:52:51.171344+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.71",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome (123150); Pfeiffer syndrome (101600); Hypogonadotropic hypogonadism 2 with or without anosmia (147950); Hartsfield syndrome (615465) to Hypogonadotropic hypogonadism 2 with or without anosmia 147950\nPublications for gene FGFR1 were changed from 12627230, 18034870, 16606836, 15001591 to 12627230, 18034870, 16606836, 15001591",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:51:56.500938+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.70",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12627230, 18034870, 16606836, 15001591; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:46:36.035110+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.70",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene FGF8 from panel Differences of Sex Development",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:46:05.970335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3540",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: FOXA2 were changed from Hyperinsulinism MONDO:0002177 to Hyperinsulinism MONDO:0002177; Hypopituitarism, MONDO:0005152\nPublications for gene FOXA2 were changed from 29329447; 28973288; 11445544; 33999151; 30414530; 33729509; 31294511 to 29329447; 28973288; 11445544; 33999151; 30414530; 33729509; 31294511",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:44:56.967213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3539",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene FOXA2 from panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:44:33.008014+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.69",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: FOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28973288, 29329447, 30414530, 33729509, 31294511, 33999151; Phenotypes: Hypopituitarism, MONDO:0005152, Hyperinsulinism, MONDO:0002177; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:36:57.091757+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.69",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene GLI3 from panel Growth failure",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:34:42.518282+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.68",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene GLI2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:32:25.414129+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.67",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene GHRHR from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:31:52.522794+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.66",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene GHR from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:31:20.351190+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.65",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene GH1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:30:47.879825+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.64",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene GNAI2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:28:27.262637+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.63",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene GNRHR from panel Differences of Sex Development",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:27:53.049278+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14561704, 26781211, 11136712, 16940453; Phenotypes: Growth hormone deficiency with pituitary anomalies, MIM#182230, Pituitary hormone deficiency, combined, 5, MIM#182230, Septooptic dysplasia, MIM#182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:25:48.463730+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835633, 16394081, 17327381, 18407919; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:24:23.835205+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17527005, 18073311; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:21:43.092050+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.62",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene OTX2 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:20:37.154581+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.61",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: PITX2",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:20:10.586336+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.61",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene PITX2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:17:49.648238+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.60",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene PNPLA6 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:14:16.329349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3538",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene NUDT6 from panel Osteogenesis Imperfecta and Osteoporosis",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:14:15.201812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3538",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NUDT6 was added\ngene: NUDT6 was added to Mendeliome. Sources: Expert List\nMode of inheritance for gene: NUDT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUDT6 were set to Osteogenesis imperfecta",
"entity_name": "NUDT6",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:13:15.136096+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NUDT6 was added\ngene: NUDT6 was added to Osteogenesis Imperfecta and Osteoporosis. Sources: Expert List\nMode of inheritance for gene: NUDT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUDT6 were set to Osteogenesis imperfecta\nReview for gene: NUDT6 was set to RED\nAdded comment: Not associated with any disease phenotype in OMIM.\r\n\r\nThe publication citation from a presentation given by Essawi et al. at the American Society of Human Genetics (ASHG 2018) conference (\"A homozygous missense variant in NUDT6 is responsible for an autosomal recessive form of osteogenesis imperfecta\").\r\n\r\nA consanguineous Palestinian family with 3 affected individuals with clinical diagnosis of OI. Exome sequencing revealed a novel homozygous missense variant (c.308G>T, p.Arg103Leu) in exon 2 of NUDT6 gene. The variant segregated with the disease in the family (6 non-affected family members were either heterozygous carriers or non-carriers). NUDT6 is an expression regulator for the FGF2 gene. Functional studies show that NUDT6 was down-regulated in the proband's dermal fibroblasts and FGF2 was upregulated (RT-qPCR). Overexpression of the wild type and mutant NUDT6 gene in different cell lines showed significantly decreased levels of mutant NUDT6 RNA expression. \nSources: Expert List",
"entity_name": "NUDT6",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:04:23.489518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3537",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TAPT1 as Green List (high evidence)",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:04:23.479420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3537",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tapt1 has been classified as Green List (High Evidence).",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:03:50.564528+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3536",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene TAPT1 from panel Osteogenesis Imperfecta and Osteoporosis",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T15:02:38.478004+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TAPT1 as Green List (high evidence)",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:02:38.470567+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tapt1 has been classified as Green List (High Evidence).",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2025-11-12T15:01:57.262949+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TAPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37292039; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2025-11-12T14:51:49.908101+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.25",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene UNC45A from panel Osteogenesis Imperfecta and Osteoporosis",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T14:50:39.752608+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.24",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added reviews for gene UNC45A from panel Osteogenesis Imperfecta and Osteoporosis",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T14:49:14.844237+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UNC45A as Green List (high evidence)",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2025-11-12T14:49:14.834456+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: unc45a has been classified as Green List (High Evidence).",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2025-11-12T14:48:50.556122+11:00",
"panel_name": "Osteogenesis Imperfecta and Osteoporosis",
"panel_id": 147,
"panel_version": "1.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35575086; Phenotypes: Osteootohepatoenteric syndrome, MIM# 619377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2025-11-12T14:02:19.137650+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A6 were set to 23714752; 33840813",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2025-11-12T14:01:53.251755+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 41092388, two more families reported with deafness, albeit as examples of dual diagnoses.; to: PMID: 41092388, two more families reported with deafness, albeit as examples of dual diagnoses. In addition, the two variants are present in hemis in gnomADv4 (5 and 3 times). Maintain Amber rating.",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2025-11-12T13:58:36.409280+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL4A6: Added comment: PMID: 41092388, two more families reported with deafness, albeit as examples of dual diagnoses.; Changed publications: 23714752, 33840813, 41092388",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2025-11-12T13:55:18.203857+11:00",
"panel_name": "Hypophosphataemia or rickets",
"panel_id": 122,
"panel_version": "0.49",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T13:52:24.623667+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.59",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T13:45:55.935928+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRRM1 as ready",
"entity_name": "SRRM1",
"entity_type": "gene"
},
{
"created": "2025-11-12T13:45:55.929136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srrm1 has been classified as Green List (High Evidence).",
"entity_name": "SRRM1",
"entity_type": "gene"
},
{
"created": "2025-11-12T13:45:09.492291+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3535",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SRRM1 from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-12T13:45:08.837870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRRM1 was added\ngene: SRRM1 was added to Mendeliome. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SRRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRRM1 were set to 41145827\nPhenotypes for gene: SRRM1 were set to Neurodevelopmental disorder, MONDO:0700092, SRRM1-related",
"entity_name": "SRRM1",
"entity_type": "gene"
},
{
"created": "2025-11-12T13:44:45.727316+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRRM1 as ready",
"entity_name": "SRRM1",
"entity_type": "gene"
},
{
"created": "2025-11-12T13:44:45.717017+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srrm1 has been classified as Green List (High Evidence).",
"entity_name": "SRRM1",
"entity_type": "gene"
},
{
"created": "2025-11-12T13:44:02.290562+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRRM1 as Green List (high evidence)",
"entity_name": "SRRM1",
"entity_type": "gene"
},
{
"created": "2025-11-12T13:44:02.279675+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srrm1 has been classified as Green List (High Evidence).",
"entity_name": "SRRM1",
"entity_type": "gene"
},
{
"created": "2025-11-12T13:43:30.968433+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRRM1 was added\ngene: SRRM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SRRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRRM1 were set to 41145827\nPhenotypes for gene: SRRM1 were set to Neurodevelopmental disorder, MONDO:0700092, SRRM1-related\nReview for gene: SRRM1 was set to GREEN\nAdded comment: PMID 41145827 reports three individuals from three unrelated families with heterozygous truncating SRRM1 variants presenting with a neurodevelopmental disorder characterised by developmental delay, intellectual disability, short stature, behavioural and skeletal anomalies, and facial dysmorphism. Two variants are confirmed de novo and functional assays in neuronal‑like cells and Drosophila support haploinsufficiency as a disease mechanism.\r\n\r\nSerine/arginine repetitive matrix protein 1 (SRRM1) is a key component of spliceosomes and plays various roles in messenger RNA processing. \nSources: Literature",
"entity_name": "SRRM1",
"entity_type": "gene"
},
{
"created": "2025-11-12T10:48:14.718431+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3534",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: ZNF81.",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2025-11-12T09:15:03.452409+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGSM3 were changed from Neurodevelopmental disorder (MONDO:0700092), SGSM3-related to Intellectual developmental disorder, autosomal recessive 84, MIM#\t620401",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2025-11-12T09:14:26.312883+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGSM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 84, MIM# 620401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2025-11-12T09:14:00.935398+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SGSM3 were changed from Neurodevelopmental disorder (MONDO:0700092), SGSM3-related to Intellectual developmental disorder, autosomal recessive 84, MIM#\t620401",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2025-11-12T09:13:38.182954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SGSM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 84, MIM# 620401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGSM3",
"entity_type": "gene"
}
]
}