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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=166",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=164",
"results": [
{
"created": "2025-09-19T17:42:28.169659+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTGS1 were changed from Platelet dysfunction; bleeding to Platelet-type bleeding disorder 12 MONDO:0011588",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:42:01.251160+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTGS1: Changed phenotypes: Platelet-type bleeding disorder 12 MONDO:0011588",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:41:45.957857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTGS1 were changed from Platelet dysfunction; bleeding to Platelet-type bleeding disorder 12 MONDO:0011588",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:41:10.377233+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH1 were changed from Holoprosencephaly 7, MIM# 610828 to Holoprosencephaly 7, MIM# 610828; Exstrophy-epispadias complex MONDO:0017919, PTCH1-related",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:40:31.888542+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH1 were changed from Bladder exstrophy and epispadias complex (BEEC) to Exstrophy-epispadias complex MONDO:0017919, PTCH1-related",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:40:08.708224+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Exstrophy-epispadias complex MONDO:0017919, PTCH1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:38:58.791785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH1 were changed from Holoprosencephaly 7, MIM# 610828; Bladder exstrophy and epispadias complex (BEEC) to Holoprosencephaly 7, MIM# 610828; Exstrophy-epispadias complex MONDO:0017919, PTCH1-related",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:38:22.073332+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCD1 were changed from Cardiomyopathy to Cardiomyopathy MONDO:0004994, PTCD1-related",
"entity_name": "PTCD1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:37:49.784851+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTCD1: Changed phenotypes: Cardiomyopathy MONDO:0004994, PTCD1-related",
"entity_name": "PTCD1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:37:34.186285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCD1 were changed from Cardiomyopathy to Cardiomyopathy MONDO:0004994, PTCD1-related",
"entity_name": "PTCD1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:36:58.982352+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMC1 were changed from Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071 to Birk-Aharoni syndrome MIM# 620071",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:36:34.173600+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMC1: Changed phenotypes: Birk-Aharoni syndrome MIM# 620071",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:36:15.980720+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMC1 were changed from Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071 to Birk-Aharoni syndrome MIM# 620071",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:31:42.880699+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRP72 were set to 22541560; 31254415",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:31:17.721584+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SRP72: Added comment: PMID: 40922878 14yo with pruritus, pancytopenia, decreased bone marrow proliferation, low granulocyte proportion, increased erythrocyte proportion, and rare megakaryocytes. Heterozygous for c.1442_1448del, p.Ile481Thrfs*12 which was inherited from his unaffected 46yo father. This variant is absent from gnomad but there are more than 10 other NMD-predicted variants with >/=5 hets in gnomad.; Changed publications: 22541560, 31254415, 40922878",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:30:26.583835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRP72 were set to 22541560; 31254415",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:28:59.354284+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOM1 as ready",
"entity_name": "TOM1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:28:59.347551+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tom1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOM1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:27:15.440376+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOM1 as Amber List (moderate evidence)",
"entity_name": "TOM1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:27:15.430426+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tom1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOM1",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:18:11.244445+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.336",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: CETN3 was added\ngene: CETN3 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CETN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CETN3 were set to 40926052\nPhenotypes for gene: CETN3 were set to microcephaly, MONDO:0001149, CETN3-related\nReview for gene: CETN3 was set to RED\nAdded comment: PMID: 40926052: 1x cHet individual with primary microcephaly (-2 SD at birth and -3 SD at 5yo), motor delay, enlarged bilateral ventricles on MRI, horizontal nystagmus. Two frameshift variants identified, p.Lys15Glufs*9 (5’ NMD-escape; 432 hets, 2 homs in gnomAD v4) and p.Asp40Lysfs*5 (NMD-predicted; filtered out in v4).\r\n\r\nCETN3-KO hCOs (human cerebral organoids) were significantly smaller than control hCOs.\r\nThe identified patient variants were introduced into WT iPSCs. Western blot analysis demonstrated a complete loss of CETN3 protein in both CETN3-KO cells and CETN3-mutant iPSCs. These were then used to generate hCOs, both of which exhibited reduced size compared to their respective controls.\r\n\r\nForebrain-specific Cetn3-ablated mice were also generated. At embryonic day 13.5 a significant but subtle reduction in forebrain size was detected in Cetn3-KO mice compared to control, while no difference was observed at P0. \nSources: Literature",
"entity_name": "CETN3",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:17:45.601781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3119",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: CETN3 was added\ngene: CETN3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CETN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CETN3 were set to 40926052\nPhenotypes for gene: CETN3 were set to microcephaly, MONDO:0001149, CETN3-related\nReview for gene: CETN3 was set to RED\nAdded comment: PMID: 40926052: 1x cHet individual with primary microcephaly (-2 SD at birth and -3 SD at 5yo), motor delay, enlarged bilateral ventricles on MRI, horizontal nystagmus. Two frameshift variants identified, p.Lys15Glufs*9 (5’ NMD-escape; 432 hets, 2 homs in gnomAD v4) and p.Asp40Lysfs*5 (NMD-predicted; filtered out in v4).\r\n\r\nCETN3-KO hCOs (human cerebral organoids) were significantly smaller than control hCOs.\r\nThe identified patient variants were introduced into WT iPSCs. Western blot analysis demonstrated a complete loss of CETN3 protein in both CETN3-KO cells and CETN3-mutant iPSCs. These were then used to generate hCOs, both of which exhibited reduced size compared to their respective controls.\r\n\r\nForebrain-specific Cetn3-ablated mice were also generated. At embryonic day 13.5 a significant but subtle reduction in forebrain size was detected in Cetn3-KO mice compared to control, while no difference was observed at P0. \nSources: Literature",
"entity_name": "CETN3",
"entity_type": "gene"
},
{
"created": "2025-09-19T17:01:15.566331+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOM1 was added\ngene: TOM1 was added to Autoinflammatory Disorders. Sources: Literature\nMode of inheritance for gene: TOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TOM1 were set to 31263572; 40936361; 33864888\nPhenotypes for gene: TOM1 were set to Immunodeficiency 85 and autoimmunity MIM#619510\nReview for gene: TOM1 was set to AMBER\nAdded comment: PMID 31263572: Parent and child reported with onset of atopic eczema and recurrent respiratory infections in the first decade of life; autoimmune enteropathy with vomiting, diarrhoea, and poor overall growth. More variable features included autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. Laboratory studies showed hypogammaglobulinaemia and abnormal T-cell function, consistent with a combined immunodeficiency. Missense variant in TOM1, with limited functional data.\r\n\r\nPMID: 33864888 reports a new unrelated patient to the previous family, a 2yo with congenital autoimmune enteropathy, exocrine pancreatic insufficiency, failure to thrive, hepatitis, atopic dermatitis, pityriasis alba, hypogammaglobulinemia, lymphopenia. Has a canonical splice variant c.267+2T>C which they have shown has 2 splicing outcomes; intron 4 retention leading to a stopgain, or cryptic donor splicing causing an in frame deletion of ~130 amino acids of the vesicular trafficking domain.\r\n\r\nPMID: 40936361 no new patients just more functional data on the originally reported missense Gly307Asp. Typically TOM1 binding to TOLLIP decreases the affinity of TOLLIP to phosphatidylinositol 3-phosphate (PtdIns3P), increasing the commitment of both proteins to cargo trafficking. This variant was shown to reduce this inhibitory effect, and impair TOM1's ability to inhibit TOLLIP binding to PtdIns3P. Patient cells also displayed delayed autophagosome clearance and more robust phosphorylation of ERK1/2 and AKT. \nSources: Literature",
"entity_name": "TOM1",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:59:57.256666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOM1 were set to 31263572; 40936361",
"entity_name": "TOM1",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:59:10.052416+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOM1 as Amber List (moderate evidence)",
"entity_name": "TOM1",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:59:10.042280+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tom1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOM1",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:58:41.946812+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOM1: Added comment: PMID: 33864888 reports a new unrelated patient to the previous family, a 2yo with congenital autoimmune enteropathy, exocrine pancreatic insufficiency, failure to thrive, hepatitis, atopic dermatitis, pityriasis alba, hypogammaglobulinemia, lymphopenia. Has a canonical splice variant c.267+2T>C which they have shown has 2 splicing outcomes; intron 4 retention leading to a stopgain, or cryptic donor splicing causing an in frame deletion of ~130 amino acids of the vesicular trafficking domain.\r\n\r\nPMID: 40936361 no new patients just more functional data on the originally reported missense Gly307Asp. Typically TOM1 binding to TOLLIP decreases the affinity of TOLLIP to phosphatidylinositol 3-phosphate (PtdIns3P), increasing the commitment of both proteins to cargo trafficking. This variant was shown to reduce this inhibitory effect, and impair TOM1's ability to inhibit TOLLIP binding to PtdIns3P. Patient cells also displayed delayed autophagosome clearance and more robust phosphorylation of ERK1/2 and AKT.; Changed rating: AMBER; Changed publications: 31263572, 40936361, 33864888; Changed phenotypes: Immunodeficiency 85 and autoimmunity, MIM# 619510",
"entity_name": "TOM1",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:57:40.823736+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3118",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RAB11A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder MONDO:0700092, RAB11A-related; Mode of inheritance: None",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:57:34.144463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOM1 were set to 31263572",
"entity_name": "TOM1",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:57:14.021586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOM1 as Amber List (moderate evidence)",
"entity_name": "TOM1",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:57:14.011077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tom1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOM1",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:56:24.622389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3116",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: QRSL1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 40 MIM#618835; Mode of inheritance: None",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:55:39.148145+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAPIN as ready",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:55:39.140934+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snapin has been classified as Green List (High Evidence).",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:55:34.206221+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNAPIN as Green List (high evidence)",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:55:34.198199+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snapin has been classified as Green List (High Evidence).",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:55:19.686464+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAPIN as ready",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:55:19.663042+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snapin has been classified as Green List (High Evidence).",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:55:13.835053+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNAPIN as Green List (high evidence)",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:55:13.824661+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snapin has been classified as Green List (High Evidence).",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:54:47.438684+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAPIN as ready",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:54:47.431869+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snapin has been classified as Green List (High Evidence).",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:54:30.661744+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNAPIN as Green List (high evidence)",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:54:30.650853+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snapin has been classified as Green List (High Evidence).",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:54:21.058238+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3116",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PYGM: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Disorder of glycogen metabolism MONDO:0002412, PYGM-related, AD; Mode of inheritance: None",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:54:05.076589+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAPIN as ready",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:54:05.069713+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snapin has been classified as Green List (High Evidence).",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:54:01.050411+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNAPIN as Green List (high evidence)",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:54:01.037649+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snapin has been classified as Green List (High Evidence).",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:53:26.818720+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAPIN as ready",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:53:26.806928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snapin has been classified as Green List (High Evidence).",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:53:19.345042+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNAPIN as Green List (high evidence)",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:53:19.337765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snapin has been classified as Green List (High Evidence).",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:49:40.114940+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.296",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ZNF865 was added\ngene: ZNF865 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZNF865 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF865 were set to 40936200\nPhenotypes for gene: ZNF865 were set to ZNF865‑associated neurodevelopmental disorder MONDO:0700092\nReview for gene: ZNF865 was set to AMBER\nAdded comment: PMID: 40936200\r\n18 patients reported with DD, hypotonia and six individuals were reported with some dysmorphic features (frontal bossing, a broad nasal bridge, hypertelorism, and low-set ears)\r\nAll 18 individuals were reported with de novo truncating variants in ZNF865. All variants were rare/absent in gnomAD v4.1.\r\n\r\nThe mechanism of disease for this gene is unknown. No pathogenic SNVs have been reported in ClinVar at this stage however there are reports of VUS’s and pathogenic CNVs. \nSources: Literature",
"entity_name": "ZNF865",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:48:49.861096+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSMB8 were set to 21129723; 21881205; 21852578; 21953331",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:48:26.403334+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSMB8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:47:36.187938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSMB8 were set to 21129723; 21881205; 21852578; 21953331",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:47:09.693496+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSMB8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:46:57.793502+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ZNF865 was added\ngene: ZNF865 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZNF865 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZNF865 were set to 40936200\nPhenotypes for gene: ZNF865 were set to ZNF865‑associated neurodevelopmental disorder MONDO:0700092\nReview for gene: ZNF865 was set to AMBER\nAdded comment: PMID: 40936200\r\n18 patients reported with DD, hypotonia and six individuals were reported with some dysmorphic features (frontal bossing, a broad nasal bridge, hypertelorism, and low-set ears)\r\nAll 18 individuals were reported with de novo truncating variants in ZNF865. All variants were rare/absent in gnomAD v4.1.\r\n\r\nThe mechanism of disease for this gene is unknown. No pathogenic SNVs have been reported in ClinVar at this stage however there are reports of VUS’s and pathogenic CNVs. \nSources: Literature",
"entity_name": "ZNF865",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:44:25.274845+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PTPRC: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 105, severe combined MIM#619924; Mode of inheritance: None",
"entity_name": "PTPRC",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:40:48.785291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PTPN22: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease MONDO:0007179, PTPN22-related; Mode of inheritance: None",
"entity_name": "PTPN22",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:33:02.969890+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PTPA: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease MONDO:0005180, PTPA-related; Mode of inheritance: None",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:16:35.653516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PTGS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Platelet-type bleeding disorder 12 MONDO:0011588; Mode of inheritance: None",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:05:37.760752+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PTCH1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Exstrophy-epispadias complex MONDO:0017919, PTCH1-related; Mode of inheritance: None",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2025-09-19T16:00:55.891153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PTCD1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy MONDO:0004994, PTCD1-related; Mode of inheritance: None",
"entity_name": "PTCD1",
"entity_type": "gene"
},
{
"created": "2025-09-19T15:48:20.349671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PSMC1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Birk-Aharoni syndrome MIM# 620071; Mode of inheritance: None",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2025-09-19T15:42:58.579743+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2025-09-19T15:14:33.609178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: None; Publications: 40922878; Phenotypes: Bone marrow failure syndrome 1, MIM#614675; Mode of inheritance: None",
"entity_name": "SRP72",
"entity_type": "gene"
},
{
"created": "2025-09-19T14:44:42.481716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: TOM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 40936361, 33864888; Phenotypes: Immunodeficiency 85 and autoimmunity MIM#619510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TOM1",
"entity_type": "gene"
},
{
"created": "2025-09-19T14:14:36.473060+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.335",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SNAPIN was added\ngene: SNAPIN was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SNAPIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAPIN were set to 40930097; 26539891\nPhenotypes for gene: SNAPIN were set to Neurodevelopmental disorder (MONDO:0700092), SNAPIN-related\nReview for gene: SNAPIN was set to GREEN\nAdded comment: PMID: 40930097 6 patients from 5 families with neuroanatomical, craniofacial, and skeletal anomalies on prenatal ultrasound/MRI, all homozygous for variants in SNAPIN. 2 stopgain, 1 canonical splice, 5 missense. common phenotypes: ventriculomegaly 5/6, cerebellar hypoplasia/atrophy 5/6, clubfeet 4/6, corpus callosum agenesis 4/6, flexion contractures 4/6, microcephaly 3/6, micrognathia/retrognathia 4/6. The patients with the nonsense or splice variants did not survive the perinatal period, while those with missense survived into early childhood. \r\n\r\nThis paper also mentions a 7th patient reported in PMID: 26539891, who has ID, microcephaly, cortical atrophy, bulbar and cerebellar hypoplasia, sensorineural polyneuropathy, and hypotonia. They are homozygous for a missense variant Asn55Tyr. Of note, the other paper report this as Arg55Trp and one of their patients also has this variant, based off the transcript information provided in both papers Arg55Trp is correct. \nSources: Literature",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T14:13:29.664698+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.296",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SNAPIN was added\ngene: SNAPIN was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SNAPIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAPIN were set to 40930097; 26539891\nPhenotypes for gene: SNAPIN were set to Neurodevelopmental disorder (MONDO:0700092), SNAPIN-related\nReview for gene: SNAPIN was set to GREEN\nAdded comment: PMID: 40930097 6 patients from 5 families with neuroanatomical, craniofacial, and skeletal anomalies on prenatal ultrasound/MRI, all homozygous for variants in SNAPIN. 2 stopgain, 1 canonical splice, 5 missense. common phenotypes: ventriculomegaly 5/6, cerebellar hypoplasia/atrophy 5/6, clubfeet 4/6, corpus callosum agenesis 4/6, flexion contractures 4/6, microcephaly 3/6, micrognathia/retrognathia 4/6. The patients with the nonsense or splice variants did not survive the perinatal period, while those with missense survived into early childhood. \r\n\r\nThis paper also mentions a 7th patient reported in PMID: 26539891, who has ID, microcephaly, cortical atrophy, bulbar and cerebellar hypoplasia, sensorineural polyneuropathy, and hypotonia. They are homozygous for a missense variant Asn55Tyr. Of note, the other paper report this as Arg55Trp and one of their patients also has this variant, based off the transcript information provided in both papers Arg55Trp is correct. \nSources: Literature",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T14:12:36.963530+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.558",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SNAPIN was added\ngene: SNAPIN was added to Callosome. Sources: Literature\nMode of inheritance for gene: SNAPIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAPIN were set to 40930097; 26539891\nPhenotypes for gene: SNAPIN were set to Neurodevelopmental disorder (MONDO:0700092), SNAPIN-related\nReview for gene: SNAPIN was set to GREEN\nAdded comment: PMID: 40930097 6 patients from 5 families with neuroanatomical, craniofacial, and skeletal anomalies on prenatal ultrasound/MRI, all homozygous for variants in SNAPIN. 2 stopgain, 1 canonical splice, 5 missense. common phenotypes: ventriculomegaly 5/6, cerebellar hypoplasia/atrophy 5/6, clubfeet 4/6, corpus callosum agenesis 4/6, flexion contractures 4/6, microcephaly 3/6, micrognathia/retrognathia 4/6. The patients with the nonsense or splice variants did not survive the perinatal period, while those with missense survived into early childhood. \r\n\r\nThis paper also mentions a 7th patient reported in PMID: 26539891, who has ID, microcephaly, cortical atrophy, bulbar and cerebellar hypoplasia, sensorineural polyneuropathy, and hypotonia. They are homozygous for a missense variant Asn55Tyr. Of note, the other paper report this as Arg55Trp and one of their patients also has this variant, based off the transcript information provided in both papers Arg55Trp is correct. \nSources: Literature",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T14:11:06.180082+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.414",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SNAPIN was added\ngene: SNAPIN was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SNAPIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAPIN were set to 40930097; 26539891\nPhenotypes for gene: SNAPIN were set to Neurodevelopmental disorder (MONDO:0700092), SNAPIN-related\nReview for gene: SNAPIN was set to GREEN\nAdded comment: PMID: 40930097 6 patients from 5 families with neuroanatomical, craniofacial, and skeletal anomalies on prenatal ultrasound/MRI, all homozygous for variants in SNAPIN. 2 stopgain, 1 canonical splice, 5 missense. common phenotypes: ventriculomegaly 5/6, cerebellar hypoplasia/atrophy 5/6, clubfeet 4/6, corpus callosum agenesis 4/6, flexion contractures 4/6, microcephaly 3/6, micrognathia/retrognathia 4/6. The patients with the nonsense or splice variants did not survive the perinatal period, while those with missense survived into early childhood. \r\n\r\nThis paper also mentions a 7th patient reported in PMID: 26539891, who has ID, microcephaly, cortical atrophy, bulbar and cerebellar hypoplasia, sensorineural polyneuropathy, and hypotonia. They are homozygous for a missense variant Asn55Tyr. Of note, the other paper report this as Arg55Trp and one of their patients also has this variant, based off the transcript information provided in both papers Arg55Trp is correct. \nSources: Literature",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T14:07:41.469629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SNAPIN was added\ngene: SNAPIN was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SNAPIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAPIN were set to 40930097; 26539891\nPhenotypes for gene: SNAPIN were set to Neurodevelopmental disorder (MONDO:0700092), SNAPIN-related\nReview for gene: SNAPIN was set to GREEN\nAdded comment: PMID: 40930097 6 patients from 5 families with neuroanatomical, craniofacial, and skeletal anomalies on prenatal ultrasound/MRI, all homozygous for variants in SNAPIN. 2 stopgain, 1 canonical splice, 5 missense. common phenotypes: ventriculomegaly 5/6, cerebellar hypoplasia/atrophy 5/6, clubfeet 4/6, corpus callosum agenesis 4/6, flexion contractures 4/6, microcephaly 3/6, micrognathia/retrognathia 4/6. The patients with the nonsense or splice variants did not survive the perinatal period, while those with missense survived into early childhood. \r\n\r\nThis paper also mentions a 7th patient reported in PMID: 26539891, who has ID, microcephaly, cortical atrophy, bulbar and cerebellar hypoplasia, sensorineural polyneuropathy, and hypotonia. They are homozygous for a missense variant Asn55Tyr. Of note, the other paper report this as Arg55Trp and one of their patients also has this variant, based off the transcript information provided in both papers Arg55Trp is correct.\r\n\r\nPMID: 40930097 Knockout zebrafish models recapitulated the human phenotype. This phenotype was rescued by injecting WT human SNAPIN RNA. Injection with the 2 missense variants observed in patients in this study was able to partially rescue the phenotype but it was significantly worse than the rescue with WT injection. One of these missense variants is absent from gnomad (Arg55Trp) while the other (Glu49Asp) has 167 hets and 1 hom. \nSources: Literature",
"entity_name": "SNAPIN",
"entity_type": "gene"
},
{
"created": "2025-09-19T12:06:40.509000+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.17",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40666351, https://dx.doi.org/10.2139/ssrn.5370606; Phenotypes: Proteosome-associated autoinflammatory syndrome MONDO:0009726, PSMB8-related, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2025-09-19T12:05:50.115078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40666351, https://dx.doi.org/10.2139/ssrn.5370606; Phenotypes: Proteosome-associated autoinflammatory syndrome MONDO:0009726, PSMB8-related, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:20:27.200366+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: NB: Common variant type is within intron 2\r\n\r\nWhole genome sequencing/Sanger sequencing in screening 3 large international cohorts with unresolved with hyperinsulinism. They identified 89 individuals with 32 different non-coding variants within the HK1 cis-regulatory region. Variant types included SNVs, indels, and CNVs. There was sufficient evidence to classify 20/32 different variants as pathogenic or likely pathogenic. There was variable severity ranging from neonatal-onset, treatment-resistant disease to being asymptomatic into adulthood.; to: NB: Common disease-causing variants are within intron 2\r\n\r\nWhole genome sequencing/Sanger sequencing in screening 3 large international cohorts with unresolved with hyperinsulinism. They identified 89 individuals with 32 different non-coding variants within the HK1 cis-regulatory region. Variant types included SNVs, indels, and CNVs. There was sufficient evidence to classify 20/32 different variants as pathogenic or likely pathogenic. There was variable severity ranging from neonatal-onset, treatment-resistant disease to being asymptomatic into adulthood.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:20:25.476078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40033430; Phenotypes: Hyperinsulinism MONDO:0002177, HK1-related; Mode of inheritance: None",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:19:22.537827+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.48",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40033430; Phenotypes: Hyperinsulinism MONDO:0002177, HK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:09:41.679842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCMDC2 as ready",
"entity_name": "MCMDC2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:09:41.668694+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcmdc2 has been classified as Green List (High Evidence).",
"entity_name": "MCMDC2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:09:15.260200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCMDC2 were set to PMID: 40897906, 35172124, 39789727, 36732629",
"entity_name": "MCMDC2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:08:29.839640+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCMDC2 as Green List (high evidence)",
"entity_name": "MCMDC2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:08:29.824723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcmdc2 has been classified as Green List (High Evidence).",
"entity_name": "MCMDC2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:08:10.609676+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCMDC2 as ready",
"entity_name": "MCMDC2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:08:10.600898+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcmdc2 has been classified as Green List (High Evidence).",
"entity_name": "MCMDC2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:08:06.345590+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCMDC2 as Green List (high evidence)",
"entity_name": "MCMDC2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:08:06.333458+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcmdc2 has been classified as Green List (High Evidence).",
"entity_name": "MCMDC2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:07:04.218552+10:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KERA as ready",
"entity_name": "KERA",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:07:04.203477+10:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kera has been classified as Green List (High Evidence).",
"entity_name": "KERA",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:04:28.441429+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome 4, MIM# 614816 to Loeys-Dietz syndrome 4, MIM# 614816; Camurati-Engelmann disease 2, MIM# 606631",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:04:11.567433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGFB2 were set to ",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:03:49.362794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: DEFINITIVE by ClinGen.; to: DEFINITIVE by ClinGen for LDS.",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:03:37.544009+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TGFB2: Added comment: Second skeletal phenotype associated with variants in this gene: Camurati-Engelmann disease-2 (CAEND2). This is an autosomal dominant disorder characterized by progressive diaphyseal dysplasia, associated with a waddling gait, muscle weakness, and severe leg pain. Bone striations are present in the spine, pelvis, and long tubular bones, with epiphyseal sclerosis. Coarse sclerotic trabeculae are observed in the short tubular bones. Skull involvement may be minimal. Four unrelated families reported in PMIDs 39014191 and 40204055. Variants were de novo in 3 of the families, and segregated with disease in the fourth.; Changed publications: 39014191, 40204055; Changed phenotypes: Loeys-Dietz syndrome 4, MIM# 614816, Camurati-Engelmann disease 2, MIM# 606631",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:02:14.428827+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB2 as ready",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:02:14.418039+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb2 has been classified as Green List (High Evidence).",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:00:57.584902+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome 4 614816 to Loeys-Dietz syndrome 4, MIM# 614816; Camurati-Engelmann disease 2, MIM# 606631",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:00:37.091478+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGFB2 were set to ",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-09-19T07:00:12.385877+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TGFB2: Added comment: Second skeletal phenotype associated with variants in this gene: Camurati-Engelmann disease-2 (CAEND2).\r\n\r\nThis is an autosomal dominant disorder characterized by progressive diaphyseal dysplasia, associated with a waddling gait, muscle weakness, and severe leg pain. Bone striations are present in the spine, pelvis, and long tubular bones, with epiphyseal sclerosis. Coarse sclerotic trabeculae are observed in the short tubular bones. Skull involvement may be minimal.\r\n\r\nFour unrelated families reported in PMIDs 39014191 and 40204055. Variants were de novo in 3 of the families, and segregated with disease in the fourth.; Changed publications: 39014191, 40204055; Changed phenotypes: Loeys-Dietz syndrome 4, MIM# 614816, Camurati-Engelmann disease 2, MIM# 606631",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2025-09-18T19:56:58.039184+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH4A1 as ready",
"entity_name": "ALDH4A1",
"entity_type": "gene"
}
]
}