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"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=60",
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"results": [
{
"created": "2026-01-13T11:33:48.158566+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.586",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.23 deletion syndrome to Chromosome Xp11.23 deletion syndrome",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T11:32:54.158706+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.585",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.23 deletion syndrome to Chromosome Xp11.23 deletion syndrome",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T11:32:35.943328+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.585",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy to Chromosome Xp11.23 deletion syndrome",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T11:29:48.245735+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.584",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37468-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T11:29:47.880169+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.584",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37468-Loss was added\nRegion: ISCA-37468-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen,Expert Review Green\nSV/CNV tags were added to Region: ISCA-37468-Loss.\nMode of inheritance for Region: ISCA-37468-Loss 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 Region: ISCA-37468-Loss were set to PMID: 22126752; 16385466; 20186789\nPhenotypes for Region: ISCA-37468-Loss were set to Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T11:27:34.573190+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.147",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: Below reviews refer to a different region than that which is defined by this region/ISCA. MAOA and MAOB are the genes encompassed by this deletion with Clingen noting the phenotype is encompassed by intellectual disability, episodic hypotonia and anomalies in levels of catecholamines.; to: Below reviews refer to a different region than that which is defined by this region/ISCA. MAOA and MAOB are the genes encompassed by this deletion, with Clingen noting the phenotype is encompassed by intellectual disability, episodic hypotonia and anomalies in levels of catecholamines.",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T11:27:18.934157+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.147",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed Region: ISCA-37468-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T11:25:03.325636+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.147",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Chromosome Xp11.3 deletion syndrome was changed to Xp11.23 region (includes MAOA and MAOB) Loss\nSource Expert list was removed from Region: ISCA-37468-Loss.\nSource ClinGen was added to Region: ISCA-37468-Loss.\nGene was set to MAOB. Panel: Common deletion and duplication syndromes",
"entity_name": "ISCA-37468-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T10:16:41.905167+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.82",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37467-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T10:16:41.710998+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.82",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37467-Gain was added\nRegion: ISCA-37467-Gain was added to Hand and foot malformations. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37467-Gain were set to 19847792; 33218365; 32184803; 28035386; 25944787\nPhenotypes for Region: ISCA-37467-Gain were set to Syndactyly, type IV, MIM#\t186200; limb anomalies; congenital heart disease; congenital anomalies",
"entity_name": "ISCA-37467-Gain",
"entity_type": "region"
},
{
"created": "2026-01-13T09:08:58.989651+11:00",
"panel_name": "Severe Combined Immunodeficiency",
"panel_id": 235,
"panel_version": "1.29",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T09:08:58.802461+11:00",
"panel_name": "Severe Combined Immunodeficiency",
"panel_id": 235,
"panel_version": "1.29",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37446-Loss was added\nRegion: ISCA-37446-Loss was added to Severe Combined Immunodeficiency. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37446-Loss.\nMode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380\nPhenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T09:08:18.463686+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.583",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T09:08:18.056690+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.583",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37446-Loss was added\nRegion: ISCA-37446-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37446-Loss.\nMode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380\nPhenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T09:07:37.051433+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.345",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T09:07:35.853792+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.345",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37446-Loss was added\nRegion: ISCA-37446-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37446-Loss.\nMode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380\nPhenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T09:06:44.128128+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.521",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T09:06:43.944407+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.521",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37446-Loss was added\nRegion: ISCA-37446-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37446-Loss.\nMode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380\nPhenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T09:06:04.938667+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.308",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T09:06:04.814748+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.308",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37446-Loss was added\nRegion: ISCA-37446-Loss was added to Clefting disorders. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37446-Loss.\nMode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380\nPhenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies",
"entity_name": "ISCA-37446-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T09:03:08.971593+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.582",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37446-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T09:03:08.597524+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.582",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37446-Gain was added\nRegion: ISCA-37446-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37446-Gain were set to PMID: 18707033\nPhenotypes for Region: ISCA-37446-Gain were set to Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D",
"entity_name": "ISCA-37446-Gain",
"entity_type": "region"
},
{
"created": "2026-01-13T09:02:27.806552+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.582",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37443-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T09:02:23.630719+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.582",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37443-Loss was added\nRegion: ISCA-37443-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37443-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37443-Loss were set to PMID: 20830797; 19460468; 19610115\nPhenotypes for Region: ISCA-37443-Loss were set to Chromosome 3q29 microdeletion syndrome MIM#609425; intellectual disability; autism",
"entity_name": "ISCA-37443-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T09:00:36.355489+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.581",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37441-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T09:00:35.906555+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.581",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37441-Loss was added\nRegion: ISCA-37441-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37441-Loss were set to PMID: 20140962\nPhenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome MIM#601224; intellectual disability; multiple exostoses; biparietal foramina",
"entity_name": "ISCA-37441-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T09:00:25.239639+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.159",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37442-Gain from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T09:00:24.862452+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.159",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37442-Gain was added\nRegion: ISCA-37442-Gain was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37442-Gain.\nMode of inheritance for Region: ISCA-37442-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37442-Gain were set to 8842729\nPhenotypes for Region: ISCA-37442-Gain were set to Diabetes mellitus, transient neonatal 1, MIM#\t601410",
"entity_name": "ISCA-37442-Gain",
"entity_type": "region"
},
{
"created": "2026-01-13T08:59:45.368975+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.74",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37441-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T08:59:45.090597+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.74",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37441-Loss was added\nRegion: ISCA-37441-Loss was added to Craniosynostosis. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37441-Loss were set to PMID: 20140962\nPhenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome MIM#601224; intellectual disability; multiple exostoses; biparietal foramina",
"entity_name": "ISCA-37441-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T08:56:03.510907+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.11",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37440-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T08:56:03.142011+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.11",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37440-Loss was added\nRegion: ISCA-37440-Loss was added to Mitochondrial disease. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250\nPhenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM#\t606407",
"entity_name": "ISCA-37440-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T08:55:05.916052+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.580",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37440-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T08:55:05.531646+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.580",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37440-Loss was added\nRegion: ISCA-37440-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250\nPhenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM#\t606407",
"entity_name": "ISCA-37440-Loss",
"entity_type": "region"
},
{
"created": "2026-01-13T08:54:25.041054+11:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.139",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37440-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-13T08:54:24.933001+11:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.139",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37440-Loss was added\nRegion: ISCA-37440-Loss was added to Aminoacidopathy. Sources: Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250\nPhenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM#\t606407",
"entity_name": "ISCA-37440-Loss",
"entity_type": "region"
},
{
"created": "2026-01-12T18:01:00.128423+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Copied gene LATS1 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-12T18:00:59.886873+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: LATS1 was added\ngene: LATS1 was added to Cerebral vascular malformations. Sources: Literature\nMode of inheritance for gene: LATS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LATS1 were set to 35986120\nPhenotypes for gene: LATS1 were set to cerebral cavernous malformations MONDO:0031037",
"entity_name": "LATS1",
"entity_type": "gene"
},
{
"created": "2026-01-12T18:00:01.629681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4057",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: LATS1 was added\ngene: LATS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LATS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LATS1 were set to 35986120\nPhenotypes for gene: LATS1 were set to cerebral cavernous malformations MONDO:0031037\nReview for gene: LATS1 was set to RED\nAdded comment: LATS1 encodes a serine‑threonine kinase in the Hippo signaling pathway that regulates YAP activity. \r\nOne reported Chinese family with missense variant (c.821C>T, p.Thr274Ile) in LATS1 and a phenotype consistent with CCM on imaging. The variant appeared to segregate in the family in affected individuals however there are multiple individuals that weren't assessed. \nSources: Literature",
"entity_name": "LATS1",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:53:12.878332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YME1L1 were changed from Optic atrophy 11, MIM#617302 to Optic atrophy 11, MIM#617302; Mitochondrial disease, MONDO:0044970, YME1L1-related",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:52:55.714206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YME1L1 were set to 30544562; 27495975",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:52:36.711448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YME1L1: Added comment: PMID 40255048: Reports 2 individuals from a single family with a homozygous missense variant NM_014263.4:c.1999C>G (p.Leu667Val) presenting with childhood‑onset sensorineural hearing loss, developmental delay, basal ganglia MRI hyperintensity, and marked 3‑methylglutaconic and 3‑methylglutaric aciduria. Patient‑derived fibroblasts display abnormal OPA1 and PRELID1 processing, increased mitochondrial fragmentation, reduced citrate synthase and α‑ketoglutarate dehydrogenase activities, and diminished oxygen consumption, supporting a loss‑of‑function mechanism.; Changed publications: 30544562, 27495975, 40255048; Changed phenotypes: Optic atrophy 11, MIM#617302, Mitochondrial disease, MONDO:0044970, YME1L1-related",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:51:48.760590+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YME1L1 were changed from Optic atrophy 11 MIM#617302 to Optic atrophy 11 MIM#617302; Mitochondrial disease, MONDO:0044970, YME1L1-related",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:51:06.788760+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YME1L1: Changed phenotypes: Mitochondrial disease, MONDO:0044970, YME1L1-related",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:50:31.004185+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YME1L1 were set to 30544562; 27495975",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:49:59.888744+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:49:34.108971+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YME1L1: Added comment: PMID 40255048: Reports 2 individuals from a single family with a homozygous missense variant NM_014263.4:c.1999C>G (p.Leu667Val) presenting with childhood‑onset sensorineural hearing loss, developmental delay, basal ganglia MRI hyperintensity, and marked 3‑methylglutaconic and 3‑methylglutaric aciduria. Patient‑derived fibroblasts display abnormal OPA1 and PRELID1 processing, increased mitochondrial fragmentation, reduced citrate synthase and α‑ketoglutarate dehydrogenase activities, and diminished oxygen consumption, supporting a loss‑of‑function mechanism.; Changed publications: 30544562, 27495975, 40255048",
"entity_name": "YME1L1",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:44:03.699873+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACRG as ready",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:44:03.692181+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacrg has been classified as Red List (Low Evidence).",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:44:00.119611+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PACRG were set to 31116684; 31182890; 14737177; 27193298; 40298292; 34089056",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:43:46.056817+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:43:29.917139+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene PACRG from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-12T17:43:29.843908+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PACRG was added\ngene: PACRG was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Victorian Clinical Genetics Services\nMode of inheritance for gene: PACRG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PACRG were set to 31116684; 31182890; 14737177; 27193298; 40298292; 34089056\nPhenotypes for gene: PACRG were set to Spermatogenic failure, MONDO:0004983, PACRG-related",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:43:05.672246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PACRG were changed from to Spermatogenic failure, MONDO:0004983, PACRG-related",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:42:49.479966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PACRG were set to 31116684; 31182890; 14737177; 27193298",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:42:32.000495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PACRG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:42:19.038918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PACRG: Added comment: PMID 34089056 and PMID 40298292 report 2 individuals from 2 families with biallelic loss-of-function variants presenting with severe sperm head defects and impaired motility (DFS‑MMAF), causing male infertility. Both studies provide detailed clinical phenotyping but lack segregation analysis and functional validation. Also, both report the same variant so can't be certain the individuals are unrelated.; Changed publications: 40298292, 34089056; Changed phenotypes: Spermatogenic failure, MONDO:0004983, PACRG-related; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PACRG",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:40:12.995507+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCYL2 as ready",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:40:12.988188+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scyl2 has been classified as Green List (High Evidence).",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:40:07.690812+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:39:34.848101+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCYL2 were set to 31960134; 26203146",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:38:59.891834+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCYL2 as ready",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:38:59.884738+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scyl2 has been classified as Green List (High Evidence).",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:38:53.916512+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCYL2 were set to 31960134; 26203146",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:37:27.842127+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:36:53.790717+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCYL2 as ready",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:36:53.782600+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scyl2 has been classified as Green List (High Evidence).",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:36:51.114740+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:36:24.269898+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCYL2 were set to 31960134; 26203146",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:35:37.436783+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:35:09.193881+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCYL2 were set to 31960134; 26203146",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:34:15.383544+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCYL2 as Green List (high evidence)",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:34:15.371959+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scyl2 has been classified as Green List (High Evidence).",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:33:28.711597+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.577",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SCYL2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-12T17:33:28.314783+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCYL2 was added\ngene: SCYL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCYL2 were set to 31960134; 26203146\nPhenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:32:45.158161+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.342",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SCYL2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-12T17:32:44.775874+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCYL2 was added\ngene: SCYL2 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCYL2 were set to 31960134; 26203146\nPhenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:32:06.262235+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCYL2 were set to 31960134; 26203146",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:31:50.524997+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SCYL2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-12T17:31:50.273951+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCYL2 was added\ngene: SCYL2 was added to Callosome. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCYL2 were set to 31960134; 26203146\nPhenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:31:50.232490+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCYL2 as Green List (high evidence)",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:31:50.214693+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scyl2 has been classified as Green List (High Evidence).",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:31:40.926308+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40243816, 39169672, 31960134; Phenotypes: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:31:10.478873+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene SCYL2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-12T17:29:56.338270+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCYL2 as Green List (high evidence)",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:29:56.328014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scyl2 has been classified as Green List (High Evidence).",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:29:43.629119+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCYL2: Added comment: PMID 31960134, 39169672, 40243816, and 36344539 collectively report seven unrelated families with biallelic SCYL2 variants. Five families present a severe syndromic arthrogryposis multiplex congenita (Zain syndrome/AMC4) featuring arthrogryposis, microcephaly, corpus callosum agenesis, optic atrophy, epilepsy and early lethality. Two families display a milder neurodevelopmental disorder with speech delay, autism spectrum disorder, intellectual disability and dysmorphic features but no arthrogryposis. Mouse knockout models and patient‑cell Western blot demonstrate loss‑of‑function, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40243816, 39169672, 31960134; Changed phenotypes: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:26:14.876718+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP5C were set to 35361529; 25363768; 33057194",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:25:56.818258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP5C: Rating: AMBER; Mode of pathogenicity: None; Publications: 40172746; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PPP5C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:25:33.976006+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP5C were set to 35361529; 25363768; 33057194",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:24:59.284042+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP5C: Rating: AMBER; Mode of pathogenicity: None; Publications: 40172746; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PPP5C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:21:47.534518+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGW as Green List (high evidence)",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:21:47.527139+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigw has been classified as Green List (High Evidence).",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:21:16.340940+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGW: Added comment: PMID 40180615; 39924787; 39766333; 38055078: additional cases not included in the ClinGen assessment.; Changed rating: GREEN; Changed publications: 24367057, 27626616, 30813920, 32198969, 40180615, 39924787, 39766333, 38055078",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:20:34.078226+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGW as Green List (high evidence)",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:20:34.071240+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigw has been classified as Green List (High Evidence).",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:20:24.791662+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGW as Green List (high evidence)",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:20:24.781089+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigw has been classified as Green List (High Evidence).",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:20:02.852197+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGW: Added comment: PMIDs 40180615; 39924787; 39766333; 38055078: additional cases not included in the ClinGen assessment.; Changed rating: GREEN; Changed publications: 24367057, 27626616, 30813920, 32198969, 40180615, 39924787, 39766333, 38055078",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2026-01-12T17:19:31.102795+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGW: Added comment: PMIDs 40180615; 39924787; 39766333; 38055078: additional cases not included in ClinGen assessment, upgrade to Green.; Changed rating: GREEN; Changed publications: 24367057, 27626616, 30813920, 32198969, 40180615, 39924787, 39766333, 38055078",
"entity_name": "PIGW",
"entity_type": "gene"
}
]
}