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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=50",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=48",
"results": [
{
"created": "2026-01-26T17:53:08.257773+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:52:58.541878+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARCN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:52:38.020758+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARCN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:52:05.057863+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARCN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:51:58.233975+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.\r\n\r\nAt least 8 individuals with the dominant disorder reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:51:36.714550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 8 unrelated families reported with heterozygous variants.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:51:19.145156+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARCN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:50:48.918072+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 14 individuals with the dominant disorder reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:49:50.502737+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.\r\n\r\nAt least 8 individuals with the dominant disorder reported.; to: At least 14 individuals with the dominant disorder reported.",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:49:16.020222+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARCN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:48:39.053015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARCN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:48:23.031521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 4 unrelated families reported with heterozygous variants.; to: At least 8 unrelated families reported with heterozygous variants.",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:48:09.342714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARCN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:47:57.182199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:43:27.326461+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:43:02.993525+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARCN1: Added comment: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.\r\n\r\nAt least 8 individuals with the dominant disorder reported.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:42:06.679948+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARCN1 were set to 27476655; 33154040",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:40:51.561668+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:40:20.888287+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARCN1: Added comment: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.; Changed publications: 27476655, 33154040, 35300924; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:39:26.895121+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARCN1 were set to 27476655",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:39:00.255421+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:38:31.831926+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARCN1: Added comment: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.\r\n\r\nAt least 8 individuals with the dominant disorder reported.; Changed rating: GREEN; Changed publications: 35300924, 27476655, 31075182, 33154040, 35300924, 38044464, 39731039, 40620618; Changed phenotypes: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164); Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:36:46.268160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARCN1 were set to 27476655; 33154040",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:36:28.926269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:35:55.195346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 4 unrelated families reported.; to: 4 unrelated families reported with heterozygous variants.",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:35:37.295112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARCN1: Added comment: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.; Changed publications: 27476655, 33154040, 35300924; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:31:03.163618+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VWA8 as ready",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:31:03.148545+11:00",
"panel_name": "Retinitis pigmentosa",
"panel_id": 277,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vwa8 has been classified as Green List (High Evidence).",
"entity_name": "VWA8",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:12:57.688738+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TXNRD2 as ready",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:12:57.678714+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnrd2 has been classified as Green List (High Evidence).",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:12:54.814541+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TXNRD2 were set to 24601690; 21247928; 34258490",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:12:06.288602+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene TXNRD2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-26T17:12:06.229355+11:00",
"panel_name": "Adrenal insufficiency",
"panel_id": 4523,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TXNRD2 was added\ngene: TXNRD2 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TXNRD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TXNRD2 were set to 24601690; 21247928; 34258490\nPhenotypes for gene: TXNRD2 were set to Glucocorticoid deficiency 5 (GCCD5), MIM#617825; MONDO:0040502",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:09:50.360132+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YWHAZ as ready",
"entity_name": "YWHAZ",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:09:50.326093+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ywhaz has been classified as Amber List (Moderate Evidence).",
"entity_name": "YWHAZ",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:09:25.543819+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene YWHAZ from panel Intellectual disability syndromic and non-syndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-26T17:09:25.381414+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YWHAZ was added\ngene: YWHAZ was added to Rasopathy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: YWHAZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: YWHAZ were set to 36001342; 31024343; 35143101; 35501409; 22124272; 26207352; 40692796\nPhenotypes for gene: YWHAZ were set to Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related",
"entity_name": "YWHAZ",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:08:23.698477+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YWHAZ were set to 36001342",
"entity_name": "YWHAZ",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:07:39.896381+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YWHAZ were set to 36001342; 31024343; 35143101; 35501409; 22124272; 26207352",
"entity_name": "YWHAZ",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:07:19.293201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YWHAZ: Added comment: Further invidividual reported as part of a large CFC cohort PMID 40692796, missense variant, limited further information.; Changed publications: 36001342, 31024343, 35143101, 35501409, 22124272, 26207352, 40692796",
"entity_name": "YWHAZ",
"entity_type": "gene"
},
{
"created": "2026-01-26T17:06:52.853651+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YWHAZ: Added comment: Further invidividual reported as part of a large CFC cohort PMID 40692796, missense variant, limited further information.; Changed publications: 31024343, 35143101, 35501409, 22124272, 26207352, 40692796",
"entity_name": "YWHAZ",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:11:59.167163+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKCH as ready",
"entity_name": "PRKCH",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:11:59.155998+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkch has been classified as Red List (Low Evidence).",
"entity_name": "PRKCH",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:11:51.561155+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKCH was added\ngene: PRKCH was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for gene: PRKCH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRKCH were set to 40591711\nPhenotypes for gene: PRKCH were set to Alzheimer disease, MONDO:0004975, PRKCH-related\nReview for gene: PRKCH was set to RED\nAdded comment: PMID 40591711 reports eight individuals from one family with a homozygous missense K65R variant \nSources: Literature",
"entity_name": "PRKCH",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:11:20.278577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKCH were changed from to Alzheimer disease, MONDO:0004975, PRKCH-related",
"entity_name": "PRKCH",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:10:58.441214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKCH were set to ",
"entity_name": "PRKCH",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:10:23.277991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKCH",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:10:05.257342+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKCH: Rating: RED; Mode of pathogenicity: None; Publications: 40591711; Phenotypes: Alzheimer disease, MONDO:0004975, PRKCH-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKCH",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:04:31.686163+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NXF3 as ready",
"entity_name": "NXF3",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:04:31.675967+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nxf3 has been classified as Red List (Low Evidence).",
"entity_name": "NXF3",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:04:08.099889+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NXF3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-26T14:04:08.037233+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NXF3 was added\ngene: NXF3 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NXF3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: NXF3 were set to 40624043\nPhenotypes for gene: NXF3 were set to Spermatogenic failure, MONDO:0004983, NXF3-related",
"entity_name": "NXF3",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:03:50.862525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NXF3: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NXF3",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:03:38.957573+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NXF3 as ready",
"entity_name": "NXF3",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:03:38.947510+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nxf3 has been classified as Red List (Low Evidence).",
"entity_name": "NXF3",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:03:30.177230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NXF3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NXF3",
"entity_type": "gene"
},
{
"created": "2026-01-26T14:03:05.059614+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NXF3 was added\ngene: NXF3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NXF3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: NXF3 were set to 40624043\nPhenotypes for gene: NXF3 were set to Spermatogenic failure, MONDO:0004983, NXF3-related\nReview for gene: NXF3 was set to RED\nAdded comment: PMID 40624043 reports a single individual with a hemizygous stop‑gain NXF3 variant inherited from a heterozygous carrier mother, presenting with severe oligoasthenoteratozoospermia. Functional studies show a truncated protein lacking the NTF2‑like domain, loss of binding to NXT2, and absence of NXF3 staining in sperm, supporting a loss‑of‑function mechanism. \nSources: Literature",
"entity_name": "NXF3",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:58:06.910921+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED14 as ready",
"entity_name": "MED14",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:58:06.900215+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med14 has been classified as Red List (Low Evidence).",
"entity_name": "MED14",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:57:50.646844+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.633",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene MED14 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-26T13:57:50.238509+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED14 was added\ngene: MED14 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature\nMode of inheritance for gene: MED14 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MED14 were set to PMID: 40597352\nPhenotypes for gene: MED14 were set to Neurodevelopmental disorder (MONDO:0700092), MED14-related",
"entity_name": "MED14",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:50:50.716636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, and immunodepression. Over 20 families reported.; to: Characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, and immunodepression. Over 20 families reported.\r\n\r\nNew HGNC approved name is SKIC3.",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:50:25.911804+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: TTC37.",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:46:23.115963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 unrelated families reported.\r\n\r\nNewe HGNC approved name is DNAAF11.; to: More than 10 unrelated families reported.\r\n\r\nNew HGNC approved name is DNAAF11.",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:46:13.366886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 unrelated families reported.; to: More than 10 unrelated families reported.\r\n\r\nNewe HGNC approved name is DNAAF11.",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:45:52.909580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: LRRC6.",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:41:10.030880+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUN5 as ready",
"entity_name": "SUN5",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:41:10.020677+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sun5 has been classified as Green List (High Evidence).",
"entity_name": "SUN5",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:40:51.009453+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SUN5 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-26T13:40:50.943197+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUN5 was added\ngene: SUN5 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SUN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUN5 were set to 34159570; 33671757; 27640305\nPhenotypes for gene: SUN5 were set to Spermatogenic failure, MONDO:0004983, SUN5-related",
"entity_name": "SUN5",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:40:36.101469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUN5 as ready",
"entity_name": "SUN5",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:40:36.090103+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sun5 has been classified as Green List (High Evidence).",
"entity_name": "SUN5",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:40:26.400124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUN5 as Green List (high evidence)",
"entity_name": "SUN5",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:40:26.389137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sun5 has been classified as Green List (High Evidence).",
"entity_name": "SUN5",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:40:05.899938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUN5 was added\ngene: SUN5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SUN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUN5 were set to 34159570; 33671757; 27640305\nPhenotypes for gene: SUN5 were set to Spermatogenic failure, MONDO:0004983, SUN5-related\nReview for gene: SUN5 was set to GREEN\nAdded comment: SUN5 encodes a testis‑specific SUN‑domain protein that anchors the sperm head to the tail. Multiple independent studies have identified biallelic loss‑of‑function SUN5 variants in >30 individuals with acephalic spermatozoa syndrome. Functional studies—including Western blot, immunofluorescence, Sun5 knockout mouse models, HeLa splicing assays, Y2H/GST pull‑down and proteasome‑inhibition rescue—demonstrate loss of SUN5 protein and disrupted head‑tail coupling, supporting loss‑of‑function as the disease mechanism. \nSources: Literature",
"entity_name": "SUN5",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:38:09.983198+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPNS1 as ready",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:38:09.975822+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spns1 has been classified as Green List (High Evidence).",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:37:50.039282+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.632",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SPNS1 from panel Lysosomal Storage Disorder",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-26T13:37:49.633378+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPNS1 was added\ngene: SPNS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SPNS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPNS1 were set to 40608416; 38451736\nPhenotypes for gene: SPNS1 were set to Lysosomal disorder, SPNS1-related, MONDO:0002561",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:36:09.613992+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPNS1 were set to 40608416",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:35:34.300048+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPNS1 as Green List (high evidence)",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:35:34.290066+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spns1 has been classified as Green List (High Evidence).",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:34:57.828239+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPNS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38451736; Phenotypes: Lysosomal disorder, SPNS1-related, MONDO:0002561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:34:00.523183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPNS1 were set to 40608416",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:33:38.932375+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPNS1 as Green List (high evidence)",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:33:38.924770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spns1 has been classified as Green List (High Evidence).",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:33:19.022123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPNS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38451736; Phenotypes: Lysosomal disorder, SPNS1-related, MONDO:0002561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:26:41.318914+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTSS1L as ready",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:26:41.307881+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtss1l has been classified as Green List (High Evidence).",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:26:36.085391+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTSS1L were set to PMID: 36067766",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:26:21.400962+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:25:38.595666+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: MTSS1L.",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:25:21.171456+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTSS1L were set to PMID: 36067766",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:24:45.234846+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: MTSS1L.",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:24:35.594421+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:23:38.569265+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTSS1L were set to PMID: 36067766; 39890443; 40698928",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:23:20.758037+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTSS1L were set to PMID: 36067766",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:22:15.930397+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:21:12.361255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: MTSS1L.",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2026-01-26T13:20:59.683012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTSS1L were set to PMID: 36067766",
"entity_name": "MTSS1L",
"entity_type": "gene"
}
]
}