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{
"count": 220403,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=53",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=51",
"results": [
{
"created": "2026-01-24T12:05:15.284249+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Green List (High Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:04:46.600354+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.\r\n\r\nFunctional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:03:59.222512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC31A were set to PMID: 30464055; 40508110",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:03:30.976088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC31A as Green List (high evidence)",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:03:30.966225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Green List (High Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:03:11.193892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: SEC31A: Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T12:00:26.937698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:56:04.532500+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEY2 as Amber List (moderate evidence)",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:56:04.521859+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hey2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:55:51.529099+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEY2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40481234; Phenotypes: Congenital heart disease, MONDO:0005453, HEY2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:54:45.362801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEY2 as Amber List (moderate evidence)",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:54:45.352485+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hey2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:54:23.630744+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HEY2: Changed rating: AMBER",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:53:15.285433+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HEY2: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:53:02.687613+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEY2 as Amber List (moderate evidence)",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:53:02.677670+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hey2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:52:37.568672+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HEY2: Added comment: PMID 32820247 reports a homozygous loss‑of‑function p.G108* in a Dutch isolate (3 homozygotes, 20 heterozygotes) causing severe congenital heart defects (CHD) and familial thoracic aortic aneurysm/dissection (FTAAD); functional luciferase, Western‑blot and qPCR assays show altered repression. Homozygotes (n = 3) had life-threatening congenital heart defects, while 80% of heterozygous carriers (n = 20) had cardiovascular defects, mainly CHD and FTAA of the ascending aorta.; Changed rating: AMBER; Changed publications: 40481234, 32820247",
"entity_name": "HEY2",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:21:12.041966+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LGI1 were changed from Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Developmental and epileptic encephalopathy 121, MIM# 621475",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:20:38.304270+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 121, MIM# 621475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:20:20.713175+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LGI1 were changed from Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy 121, MIM# 621475",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:19:40.767730+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LGI1: Changed phenotypes: Epilepsy, familial temporal lobe, 1, MIM# 6000512, Developmental and epileptic encephalopathy 121, MIM# 621475; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:19:19.584302+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LGI1 were changed from Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy 121, MIM# 621475",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2026-01-24T11:18:55.086383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 121, MIM# 621475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LGI1",
"entity_type": "gene"
},
{
"created": "2026-01-23T16:12:35.049393+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.36",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: PLXNA1 as Amber List (moderate evidence)",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-01-23T16:12:35.039044+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.36",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: plxna1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-01-23T16:12:01.535463+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.35",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PLXNA1 was added\ngene: PLXNA1 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: PLXNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PLXNA1 were set to 28334861; 30467832; 34636164\nPhenotypes for gene: PLXNA1 were set to Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related\nReview for gene: PLXNA1 was set to AMBER\nAdded comment: reported phenotype expansion for monoallelic Kallman syndrome:\r\nPMIDs 28334861 13 families with Kallman syndrome, however only 3 of these variants (His684Tyr Lys1618Thr Cys1744Phe) are absent from gnomad, the rest have at least 6 hets and most have over 20 hets. in transfected cells His684Tyr, Lys1618Thr and some of the common missense variants were shown to result in reduced total amounts of protein. In a minigene assay Cys1744Phe which is at the last base of an exon was shown to cause intron 28 retention which would be out of frame. No variants in this study were noted to be de novo.\r\n\r\nPMID: 30467832 10 missense variants identified in patients with hypogonadotropic hypogonadism. Again some of the reported missense have over 20 hets in gnomad but 5 of the variants are rare or absent Lys1451Arg, Ser1850Arg, Ile1701Val, Pro485Leu and Val536Ile. All of these variants were either inherited from a parent or inheritance was unknown, and 1 individual had a better diagnosis with a nonsense in FGFR1 while other patients had variants in other genes amber for HH. No variants in this study were noted to be de novo.\r\n\r\nPMID: 34636164 another 10 missense variants identified in 11 families with hypogonadotropic hypogonadism. However, only 3 were not common in gnomad; Pro848Arg, Ala1106Val, and Ser1709Leu. Ala1106Val and Ser1709Leu were both inherited from unaffected mothers, and most patients in this study also had variants of interest in other genes. No variants in this study were noted to be de novo.\r\n\r\nSo at least 10 reports of variants that are rare/absent in gnomad with Kallman syndrome, all missense variants, most without segregation information or inherited from unaffected/unknown if affected parents. Some with a bit of functional work. Many patients also have variants of interest in other genes amber or green for the same phenotype. borderline amber/green \nSources: Literature",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-01-23T16:11:20.727401+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.623",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-46296-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-23T16:11:20.328607+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.623",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46296-Loss was added\nRegion: ISCA-46296-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen\nMode of inheritance for Region: ISCA-46296-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-46296-Loss were set to PMID: 25217958",
"entity_name": "ISCA-46296-Loss",
"entity_type": "region"
},
{
"created": "2026-01-23T16:10:30.920416+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.150",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-46296-Loss was added\nRegion: ISCA-46296-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-46296-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-46296-Loss were set to PMID: 25217958\nAdded comment: HI3 deletion defined by Clingen, characteristic features include dev delay, ID, seizures, ASD\r\n\r\nSlightly small del than ISCA 37396 \nSources: ClinGen",
"entity_name": "ISCA-46296-Loss",
"entity_type": "region"
},
{
"created": "2026-01-23T16:09:32.104542+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4153",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no recent literature supporting the dominant association\r\n\r\nThe monoallelic assertion for this gene is now RED, still GREEN for biallelic; to: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no recent literature supporting the dominant association\r\n\r\nThe monoallelic assertion for a neurodevelopmental disorder in this gene is now RED, still GREEN for biallelic",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-01-23T16:08:59.555697+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4153",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "edited their review of gene: PLXNA1: Changed publications: 34054129, 28464511, 28334861, 30467832, 34636164; Changed phenotypes: Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955, Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-01-23T16:04:16.997982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4153",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: PLXNA1 were set to 34054129; 28464511",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-01-23T16:03:36.708233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4152",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: PLXNA1 were changed from Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 to Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955; Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-01-23T16:03:21.538549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4151",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLXNA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-01-23T16:02:50.652651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4150",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "edited their review of gene: PLXNA1: Added comment: reported phenotype expansion for monoallelic Kallman syndrome:\r\nPMIDs 28334861 13 families with Kallman syndrome, however only 3 of these variants (His684Tyr Lys1618Thr Cys1744Phe) are absent from gnomad, the rest have at least 6 hets and most have over 20 hets. in transfected cells His684Tyr, Lys1618Thr and some of the common missense variants were shown to result in reduced total amounts of protein. In a minigene assay Cys1744Phe which is at the last base of an exon was shown to cause intron 28 retention which would be out of frame. No variants in this study were noted to be de novo.\r\n\r\nPMID: 30467832 10 missense variants identified in patients with hypogonadotropic hypogonadism. Again some of the reported missense have over 20 hets in gnomad but 5 of the variants are rare or absent Lys1451Arg, Ser1850Arg, Ile1701Val, Pro485Leu and Val536Ile. All of these variants were either inherited from a parent or inheritance was unknown, and 1 individual had a better diagnosis with a nonsense in FGFR1 while other patients had variants in other genes amber for HH. No variants in this study were noted to be de novo.\r\n\r\nPMID: 34636164 another 10 missense variants identified in 11 families with hypogonadotropic hypogonadism. However, only 3 were not common in gnomad; Pro848Arg, Ala1106Val, and Ser1709Leu. Ala1106Val and Ser1709Leu were both inherited from unaffected mothers, and most patients in this study also had variants of interest in other genes. No variants in this study were noted to be de novo.\r\n\r\nSo at least 10 reports of variants that are rare/absent in gnomad with Kallman syndrome, all missense variants, most without segregation information or inherited from unaffected/unknown if affected parents. Some with a bit of functional work. Many patients also have variants of interest in other genes amber or green for the same phenotype. borderline amber/green; Changed rating: AMBER; Changed phenotypes: Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2026-01-23T15:31:22.794924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4150",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: LINGO4 were set to PMID: 33098801",
"entity_name": "LINGO4",
"entity_type": "gene"
},
{
"created": "2026-01-23T15:31:05.400952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4149",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: LINGO4 were changed from Developmental Delay, Intellectual disability, speech disorder to Neurodevelopmental disorder (MONDO:0700092), LINGO4-related",
"entity_name": "LINGO4",
"entity_type": "gene"
},
{
"created": "2026-01-23T11:59:43.210701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4148",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "edited their review of gene: SRP72: Changed publications: 40922878, 37176611, 41472573, 40510848, 41142505",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2026-01-23T11:59:30.627945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4148",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: PMID: 41142505 15yo with thrombocytopenia, mild anemia with macrocytosis and mild leukopenia. found to have a paternally inherited missense in SRP72 (2 hets in gnomad) along with maternally inherited missense (absent from gnomad) in TINF2 and deep intronic variant in TERT (absent from gnomad). \r\n\r\nPMID: 41472573 6yo boy with aplastic anemia, pancytopenia and leukopenia, thrombocytopenia and reduced red cell count. Found to have a de novo canonical splice variant c.1502+1G>A that has 63 hets in gnomad. RT-PCR showed retention of 2bp leading to an out of frame product.\r\n\r\nPMID: 40510848 1 individual in a congenital neuropenia cohort with an SPR72 variant. Variant only listed in the supplementary material Trp474*, inheritance unknown, absent from gnomad\r\n\r\nPMID: 37176611 4yo girl with repeated infections and severe neutropenia. Found to have a paternally inherited balanced translocation t(3;8)(p26;q21)c, as well as maternally inherited synonymous variant in SRP72 and missense in ANKRD26. The synonymous variant in this case has over 4000 homs in gnomad and is very unlikely to be contributing to the phenotype. \r\n\r\nOnly 1 compelling report in PMID: 40510848, however other NMD variants are present in gnomad with high het counts. borderline amber/green; to: PMID: 41142505 15yo with thrombocytopenia, mild anemia with macrocytosis and mild leukopenia. found to have a paternally inherited missense in SRP72 (2 hets in gnomad) along with maternally inherited missense (absent from gnomad) in TINF2 and deep intronic variant in TERT (absent from gnomad). \r\n\r\nPMID: 41472573 6yo boy with aplastic anemia, pancytopenia and leukopenia, thrombocytopenia and reduced red cell count. Found to have a de novo canonical splice variant c.1502+1G>A that has 63 hets in gnomad. RT-PCR showed retention of 2bp leading to an out of frame product.\r\n\r\nPMID: 40510848 1 individual in a congenital neuropenia cohort with an SPR72 variant. Variant only listed in the supplementary material Trp474*, inheritance unknown, absent from gnomad\r\n\r\nPMID: 37176611 4yo girl with repeated infections and severe neutropenia. Found to have a paternally inherited balanced translocation t(3;8)(p26;q21)c, as well as maternally inherited synonymous variant in SRP72 and missense in ANKRD26. The synonymous variant in this case has over 4000 homs in gnomad and is very unlikely to be contributing to the phenotype. \r\n\r\nOnly 1 compelling report in PMID: 40510848, however other NMD variants are present in gnomad with high het counts. borderline amber/green",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2026-01-23T11:59:14.217554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4148",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: SRP72 were set to 22541560; 31254415; 40922878; 3717661; 41472573; 40510848; 41142505",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2026-01-23T11:58:48.205258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4147",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: SRP72 were set to 22541560; 31254415; 40922878",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2026-01-23T11:58:15.563503+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4146",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "edited their review of gene: SRP72: Added comment: PMID: 41142505 15yo with thrombocytopenia, mild anemia with macrocytosis and mild leukopenia. found to have a paternally inherited missense in SRP72 (2 hets in gnomad) along with maternally inherited missense (absent from gnomad) in TINF2 and deep intronic variant in TERT (absent from gnomad). \r\n\r\nPMID: 41472573 6yo boy with aplastic anemia, pancytopenia and leukopenia, thrombocytopenia and reduced red cell count. Found to have a de novo canonical splice variant c.1502+1G>A that has 63 hets in gnomad. RT-PCR showed retention of 2bp leading to an out of frame product.\r\n\r\nPMID: 40510848 1 individual in a congenital neuropenia cohort with an SPR72 variant. Variant only listed in the supplementary material Trp474*, inheritance unknown, absent from gnomad\r\n\r\nPMID: 37176611 4yo girl with repeated infections and severe neutropenia. Found to have a paternally inherited balanced translocation t(3;8)(p26;q21)c, as well as maternally inherited synonymous variant in SRP72 and missense in ANKRD26. The synonymous variant in this case has over 4000 homs in gnomad and is very unlikely to be contributing to the phenotype. \r\n\r\nOnly 1 compelling report in PMID: 40510848, however other NMD variants are present in gnomad with high het counts. borderline amber/green; Changed publications: 40922878, 3717661, 41472573, 40510848, 41142505",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2026-01-23T11:48:33.182082+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.622",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied gene LAGE3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-23T11:48:32.363413+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.622",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: LAGE3 was added\ngene: LAGE3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: LAGE3 were set to 28805828\nPhenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked, MIM# 301006",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2026-01-23T10:23:47.911931+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.76",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: ZNF185 was added\ngene: ZNF185 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ZNF185 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: ZNF185 were set to 39267058\nPhenotypes for gene: ZNF185 were set to Azoospermia MONDO:0100459, ZNF185-related\nReview for gene: ZNF185 was set to RED\nAdded comment: PMID 39267058 reports three unrelated individuals with autosomal recessive primary male infertility (all 3 had non-obstructive azoospermia). All 3 were hemizygous for different missense variants, one of which has 28 hemis and 38 hets in gnomad v4, and another has 6 hemis and 4 hets in gnomad v4. No functional or segregation evidence was provided to support the pathogenicity of these variants. \nSources: Literature",
"entity_name": "ZNF185",
"entity_type": "gene"
},
{
"created": "2026-01-23T10:23:04.282463+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.621",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: ZNF185 was added\ngene: ZNF185 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZNF185 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: ZNF185 were set to 41404552\nPhenotypes for gene: ZNF185 were set to Cerebrooculonasal syndrome MONDO:0011575, ZNF185-related\nReview for gene: ZNF185 was set to RED\nAdded comment: PMID 41404552 describes a single female individual with cerebro oculo nasal syndrome and a de novo heterozygous X linked frameshift ZNF185. The proband presented with developmental delay, moderate ID, dysmorphic facial features, cleft lip/palate, nasal anomaly, CHD and anopthalmia. She was shown to have skewed X-inactivation 19:81, however it is not stated if the skewing was towards the allele with the variant. The variant in this individual (p.Gln102SerfsTer18) is NMD predicted and absent from gnomad, however there are at least 6 NMD variants present in gnomad as hemizygous (4 with over 4 hemis) all of which also have over 5 heterozygotes \nSources: Literature",
"entity_name": "ZNF185",
"entity_type": "gene"
},
{
"created": "2026-01-23T10:20:43.501197+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4146",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "edited their review of gene: ZNF185: Changed publications: 41404552, 39267058; Changed phenotypes: Azoospermia MONDO:0100459, ZNF185-related, Cerebrooculonasal syndrome MONDO:0011575, ZNF185-related",
"entity_name": "ZNF185",
"entity_type": "gene"
},
{
"created": "2026-01-23T10:18:48.923769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4146",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: ZNF185 were set to 39267058",
"entity_name": "ZNF185",
"entity_type": "gene"
},
{
"created": "2026-01-23T10:18:37.207594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4145",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF185 were changed from Azoospermia MONDO:0100459, ZNF185-related to Azoospermia MONDO:0100459, ZNF185-related; Cerebrooculonasal syndrome MONDO:0011575, ZNF185-related",
"entity_name": "ZNF185",
"entity_type": "gene"
},
{
"created": "2026-01-23T10:18:11.756627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4144",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "edited their review of gene: ZNF185: Added comment: PMID 41404552 describes a single female individual with cerebro‑oculo‑nasal syndrome and a de novo heterozygous X‑linked frameshift ZNF185. The proband presented with developmental delay, moderate ID, dysmorphic facial features, cleft lip/palate, nasal anomaly, CHD and anopthalmia. She was shown to have skewed X-inactivation 19:81, however it is not stated if the skewing was towards the allele with the variant. The variant in this individual (p.Gln102SerfsTer18) is NMD predicted and absent from gnomad, however there are at least 6 NMD variants present in gnomad as hemizygous (4 with over 4 hemis) all of which also have over 5 heterozygotes.; Changed publications: 41404552; Changed phenotypes: Cerebrooculonasal syndrome MONDO:0011575, ZNF185-related",
"entity_name": "ZNF185",
"entity_type": "gene"
},
{
"created": "2026-01-23T10:17:23.710963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4144",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: ZNF185 was added\ngene: ZNF185 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF185 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: ZNF185 were set to 39267058\nPhenotypes for gene: ZNF185 were set to Azoospermia MONDO:0100459, ZNF185-related\nReview for gene: ZNF185 was set to RED\nAdded comment: PMID 39267058 reports three unrelated individuals with autosomal recessive primary male infertility (all 3 had non-obstructive azoospermia). All 3 were hemizygous for different missense variants, one of which has 28 hemis and 38 hets in gnomad v4, and another has 6 hemis and 4 hets in gnomad v4. No functional or segregation evidence was provided to support the pathogenicity of these variants. \nSources: Literature",
"entity_name": "ZNF185",
"entity_type": "gene"
},
{
"created": "2026-01-23T08:27:16.780786+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NLRP7: Changed rating: GREEN",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2026-01-23T08:27:08.272915+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two individuals reported with this phenotype and mono-allelic variants.; to: Five individuals reported with this phenotype and mono-allelic variants.",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2026-01-23T08:25:34.696788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NLRP7 were changed from Hydatidiform mole, recurrent, 1 - MIM#231090 to Hydatidiform mole, recurrent, 1 - MIM#231090; Oocyte/zygote/embryo maturation arrest 25, MIM# 621471",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2026-01-23T08:25:17.188252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NLRP7 were set to 23201303; 23125094; 25097207; 26606510; 19650864; 23880596; 22770628; 26544189; 28428943; 21623199; 21439709; 33583041; 32055942; 19246479; 19066229; 34189227",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2026-01-23T08:24:59.736056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NLRP7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2026-01-23T08:24:48.869814+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLRP7 as Green List (high evidence)",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2026-01-23T08:24:48.858786+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp7 has been classified as Green List (High Evidence).",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2026-01-23T08:24:28.534304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NLRP7: Rating: AMBER; Mode of pathogenicity: None; Publications: 37148315; Phenotypes: Oocyte/zygote/embryo maturation arrest 25, MIM# 621471; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NLRP7",
"entity_type": "gene"
},
{
"created": "2026-01-23T08:06:41.091652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: IMPG1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:40:15.963585+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:07:49.582912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCBP1 as ready",
"entity_name": "PCBP1",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:07:49.573355+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcbp1 has been classified as Green List (High Evidence).",
"entity_name": "PCBP1",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:07:25.377364+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCBP1 as Green List (high evidence)",
"entity_name": "PCBP1",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:07:25.370085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcbp1 has been classified as Green List (High Evidence).",
"entity_name": "PCBP1",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:06:52.556231+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCBP1 as ready",
"entity_name": "PCBP1",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:06:52.545456+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcbp1 has been classified as Green List (High Evidence).",
"entity_name": "PCBP1",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:06:45.574126+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCBP1 as Green List (high evidence)",
"entity_name": "PCBP1",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:06:45.564955+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcbp1 has been classified as Green List (High Evidence).",
"entity_name": "PCBP1",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:04:52.696255+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC13C as ready",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:04:52.685365+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13c has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:04:43.165320+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC13C as Amber List (moderate evidence)",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:04:43.154045+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13c has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:04:10.346387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC13C as ready",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:04:10.336501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13c has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:04:01.727152+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC13C as Amber List (moderate evidence)",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:04:01.717013+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13c has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:03:40.844899+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC13C as ready",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:03:40.834808+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13c has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:03:36.898743+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC13C as Amber List (moderate evidence)",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:03:36.888890+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13c has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC13C",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:01:35.422729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSR2 as ready",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:01:35.411815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osr2 has been classified as Green List (High Evidence).",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:01:27.944664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OSR2 were changed from MONDO:0005497 to Skeletal dysplasia, MONDO:0018230, OSR2-related",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:01:06.562451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OSR2 as Green List (high evidence)",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:01:06.552595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osr2 has been classified as Green List (High Evidence).",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:00:44.819853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230, OSR2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:00:16.778631+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSR2 as ready",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:00:16.767517+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osr2 has been classified as Green List (High Evidence).",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T21:00:13.470305+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OSR2 were changed from MONDO:0005497 to Skeletal dysplasia, MONDO:0018230, OSR2-related",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:59:47.676246+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OSR2 as Green List (high evidence)",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:59:47.655452+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osr2 has been classified as Green List (High Evidence).",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:59:20.225961+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230, OSR2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OSR2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:56:58.824392+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSPT2 as ready",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:56:58.817357+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gspt2 has been classified as Green List (High Evidence).",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:56:44.219122+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.358",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene GSPT2 from panel Fetal anomalies",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-22T20:56:43.929607+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GSPT2 was added\ngene: GSPT2 was added to Genetic Epilepsy. Sources: Expert Review Green,Genomics England PanelApp,Genetic Health Queensland\nMode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GSPT2 were set to 28414775; 41420488\nPhenotypes for gene: GSPT2 were set to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:55:04.087816+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSPT2 were changed from Intellectual disability MONDO:0001071, GSPT2-related to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:54:50.172255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSPT2 were set to 28414775",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2026-01-22T20:54:38.044591+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSPT2 as Green List (high evidence)",
"entity_name": "GSPT2",
"entity_type": "gene"
}
]
}