{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=50","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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"}]}