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{
"count": 220771,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=174",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=172",
"results": [
{
"created": "2025-09-05T18:30:13.424454+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR2C were changed from Primary ovarian insufficiency to Primary ovarian insufficiency MONDO:0005387, POLR2C-related",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:30:00.535683+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLR2C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ovarian insufficiency MONDO:0005387, POLR2C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:29:30.224200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR2C were changed from Primary ovarian insufficiency to Primary ovarian insufficiency MONDO:0005387, POLR2C-related",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:28:52.079600+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZPR1 were changed from Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321 to Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, MIM# 619321",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:17:01.970133+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZPR1 as Amber List (moderate evidence)",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:17:01.963189+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zpr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:16:51.445019+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZPR1: Changed rating: AMBER",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:16:46.162332+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 40776660: new family reported with two sibs, same homozygous founder variant.; to: PMID 40776660: new family reported with two sibs, same homozygous founder variant.\r\n\r\nThis paper also summarizes functional studies from the previous paper PMID: 29851065 - cultured skin fibroblasts from the patient homozygous for c.587 T>C showed significantly fewer cells in late S and G2/M phases of the cell cycle compared to control fibroblasts suggesting a disruption of cell-cycle progression past the G1 phase. ZPR1 protein was undetectable in fibroblasts from the affected individual.",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:08:41.170938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZPR1 as Amber List (moderate evidence)",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:08:41.163226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zpr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:07:06.822140+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COMMD4 as ready",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:07:06.810925+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: commd4 has been classified as Red List (Low Evidence).",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:07:01.108327+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COMMD4 as Red List (low evidence)",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:07:01.101089+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: commd4 has been classified as Red List (Low Evidence).",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:06:19.801721+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COMMD4 as ready",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:06:19.790244+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: commd4 has been classified as Red List (Low Evidence).",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:03:39.372735+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COMMD4 as Red List (low evidence)",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:03:39.365218+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: commd4 has been classified as Red List (Low Evidence).",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:03:07.308422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COMMD4 as ready",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:03:07.298235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: commd4 has been classified as Red List (Low Evidence).",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:02:56.070227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COMMD4 as Red List (low evidence)",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T18:02:56.062573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: commd4 has been classified as Red List (Low Evidence).",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T17:42:13.989250+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.453",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ADAMTS6 as Green List (high evidence)",
"entity_name": "ADAMTS6",
"entity_type": "gene"
},
{
"created": "2025-09-05T17:42:13.982159+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.453",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: adamts6 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS6",
"entity_type": "gene"
},
{
"created": "2025-09-05T17:42:06.155553+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.98",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ADAMTS6 as Green List (high evidence)",
"entity_name": "ADAMTS6",
"entity_type": "gene"
},
{
"created": "2025-09-05T17:42:06.147478+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.98",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: adamts6 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS6",
"entity_type": "gene"
},
{
"created": "2025-09-05T17:41:53.336475+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3013",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ADAMTS6 as Green List (high evidence)",
"entity_name": "ADAMTS6",
"entity_type": "gene"
},
{
"created": "2025-09-05T17:41:53.325115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3013",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: adamts6 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS6",
"entity_type": "gene"
},
{
"created": "2025-09-05T17:41:39.539065+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.452",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ADAMTS6 was added\ngene: ADAMTS6 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: ADAMTS6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADAMTS6 were set to PMID: 40657314\nPhenotypes for gene: ADAMTS6 were set to Aortic aneurysm MONDO:0005160; Connective tissue disorder MONDO:0003900; Congenital heart disease MONDO:0005453\nReview for gene: ADAMTS6 was set to GREEN\nAdded comment: 4 unrelated individuals with thoracic aortic dilatation/aneurysm (3/4), congenital heart defect (3/4), high palate (3/4), hypertelorism (3/4), flat feet (3/4). learning issues/ID (2/4). \r\n\r\nWES/WGS identified 4 rare predicted deleterious missense variants in ADAMTS6 gene [p.(Leu814Arg), p.(Asp319Asn), p.(Ala147Thr), p.(Ile810Leu)]. 2/4 variants were de novo, 1/4 was inherited (no parental phenotype info), 1/4 unknown status. Note: THSD4 gene, encoding ADAMTSL6, is associated with aortopathy disorder. \r\n \r\nFunctional studies (patient-derived fibroblasts) demonstrated that the variants impair ADAMTS6 secretion or function resulting in increased deposition of FBN1 and FBN2, and therefore extracellular matrix accumulation and microfibril disorganization. One variant, p.(Leu814Arg), further disrupted the Hippo and TGFβ signalling pathways and altered cell adhesion. Adamts6 (S149R/S149R) mice showed ventricular septal defects and accumulation of FBN1 and FBN2 in the outflow tracts. \r\n\r\nProposed name of condition: CHAN syndrome (Connective tissue, Heart defect, thoracic Aortic aneurysm, and Neurodevelopmental) syndrome. \nSources: Literature",
"entity_name": "ADAMTS6",
"entity_type": "gene"
},
{
"created": "2025-09-05T17:41:31.913179+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3012",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ADAMTS6 was added\ngene: ADAMTS6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADAMTS6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADAMTS6 were set to PMID: 40657314\nPhenotypes for gene: ADAMTS6 were set to Aortic aneurysm MONDO:0005160; Connective tissue disorder MONDO:0003900; Congenital heart disease MONDO:0005453\nReview for gene: ADAMTS6 was set to GREEN\nAdded comment: 4 unrelated individuals with thoracic aortic dilatation/aneurysm (3/4), congenital heart defect (3/4), high palate (3/4), hypertelorism (3/4), flat feet (3/4). learning issues/ID (2/4). \r\n\r\nWES/WGS identified 4 rare predicted deleterious missense variants in ADAMTS6 gene [p.(Leu814Arg), p.(Asp319Asn), p.(Ala147Thr), p.(Ile810Leu)]. 2/4 variants were de novo, 1/4 was inherited (no parental phenotype info), 1/4 unknown status. Note: THSD4 gene, encoding ADAMTSL6, is associated with aortopathy disorder. \r\n \r\nFunctional studies (patient-derived fibroblasts) demonstrated that the variants impair ADAMTS6 secretion or function resulting in increased deposition of FBN1 and FBN2, and therefore extracellular matrix accumulation and microfibril disorganization. One variant, p.(Leu814Arg), further disrupted the Hippo and TGFβ signalling pathways and altered cell adhesion. Adamts6 (S149R/S149R) mice showed ventricular septal defects and accumulation of FBN1 and FBN2 in the outflow tracts. \r\n\r\nProposed name of condition: CHAN syndrome (Connective tissue, Heart defect, thoracic Aortic aneurysm, and Neurodevelopmental) syndrome. \nSources: Literature",
"entity_name": "ADAMTS6",
"entity_type": "gene"
},
{
"created": "2025-09-05T17:40:20.433138+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.97",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ADAMTS6 was added\ngene: ADAMTS6 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: ADAMTS6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADAMTS6 were set to PMID: 40657314\nPhenotypes for gene: ADAMTS6 were set to Aortic aneurysm MONDO:0005160; Connective tissue disorder MONDO:0003900; Congenital heart disease MONDO:0005453\nReview for gene: ADAMTS6 was set to GREEN\nAdded comment: 4 unrelated individuals with thoracic aortic dilatation/aneurysm (3/4), congenital heart defect (3/4), high palate (3/4), hypertelorism (3/4), flat feet (3/4). learning issues/ID (2/4). \r\n\r\nWES/WGS identified 4 rare predicted deleterious missense variants in ADAMTS6 gene [p.(Leu814Arg), p.(Asp319Asn), p.(Ala147Thr), p.(Ile810Leu)]. 2/4 variants were de novo, 1/4 was inherited (no parental phenotype info), 1/4 unknown status. Note: THSD4 gene, encoding ADAMTSL6, is associated with aortopathy disorder. \r\n \r\nFunctional studies (patient-derived fibroblasts) demonstrated that the variants impair ADAMTS6 secretion or function resulting in increased deposition of FBN1 and FBN2, and therefore extracellular matrix accumulation and microfibril disorganization. One variant, p.(Leu814Arg), further disrupted the Hippo and TGFβ signalling pathways and altered cell adhesion. Adamts6 (S149R/S149R) mice showed ventricular septal defects and accumulation of FBN1 and FBN2 in the outflow tracts. \r\n\r\nProposed name of condition: CHAN syndrome (Connective tissue, Heart defect, thoracic Aortic aneurysm, and Neurodevelopmental) syndrome. \nSources: Literature",
"entity_name": "ADAMTS6",
"entity_type": "gene"
},
{
"created": "2025-09-05T17:13:49.967556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3011",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TCFL5 was added\ngene: TCFL5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TCFL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TCFL5 were set to PMID: 40711600\nPhenotypes for gene: TCFL5 were set to Oligoasthenoteratozoospermia MONDO:0850098\nReview for gene: TCFL5 was set to RED\nAdded comment: 2 brothers from non-consanguineous family with oligoasthenoteratozoospermia (OAT). WES identified missense variant in TCFL5 gene (c.1207G>A, p.E403K). Western blotting and immunofluorescence showed no significant effect on the expression of 'mutant' TCFL5. Dual-luciferase reporter assay revealed a serious impact on its transcriptional regulatory function.\r\nThe variant disrupted the normal transcription of crucial genes involved in spermatogenesis (DMRT1, DAZL, SYCE1, SPACA1, CNTROB, IFT88, HOOK1 and SPATA6). Tcfl5+/- male mice manifest infertile due to OAT, while Tcfl5-/- mice can not be generated. \nSources: Literature",
"entity_name": "TCFL5",
"entity_type": "gene"
},
{
"created": "2025-09-05T17:12:41.662715+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.25",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TCFL5 was added\ngene: TCFL5 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TCFL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TCFL5 were set to PMID: 40711600\nPhenotypes for gene: TCFL5 were set to Oligoasthenoteratozoospermia MONDO:0850098\nReview for gene: TCFL5 was set to RED\nAdded comment: 2 brothers from non-consanguineous family with oligoasthenoteratozoospermia (OAT). WES identified missense variant in TCFL5 gene (c.1207G>A, p.E403K). Western blotting and immunofluorescence showed no significant effect on the expression of 'mutant' TCFL5. Dual-luciferase reporter assay revealed a serious impact on its transcriptional regulatory function. \r\nThe variant disrupted the normal transcription of crucial genes involved in spermatogenesis (DMRT1, DAZL, SYCE1, SPACA1, CNTROB, IFT88, HOOK1 and SPATA6). Tcfl5+/- male mice manifest infertile due to OAT, while Tcfl5-/- mice can not be generated. \nSources: Literature",
"entity_name": "TCFL5",
"entity_type": "gene"
},
{
"created": "2025-09-05T17:04:58.380562+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NPHP4 as Red List (low evidence)",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2025-09-05T17:04:58.372949+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nphp4 has been classified as Red List (Low Evidence).",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2025-09-05T16:38:49.452085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3010",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PPARA: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholesterol metabolism disease MONDO:0045008, PPARA-related; Mode of inheritance: None",
"entity_name": "PPARA",
"entity_type": "gene"
},
{
"created": "2025-09-05T16:34:10.659869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3010",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: POU5F1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ovarian insufficiency MONDO:0005387, POU5F1-related; Mode of inheritance: None",
"entity_name": "POU5F1",
"entity_type": "gene"
},
{
"created": "2025-09-05T16:23:40.989895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3010",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: POPDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39006410, 32535041; Phenotypes: Cardiac conduction defect MONDO:0100042, POPDC2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-09-05T15:55:59.665882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3010",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: POLR3H: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ovarian insufficiency MONDO:0005387, POLR3H-related; Mode of inheritance: None",
"entity_name": "POLR3H",
"entity_type": "gene"
},
{
"created": "2025-09-05T15:47:46.165919+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3010",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: POLR3A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: POLR3A-related disorder MONDO:0700276; Mode of inheritance: None",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2025-09-05T15:44:14.389170+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3010",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: POLR2C: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ovarian insufficiency MONDO:0005387, POLR2C-related; Mode of inheritance: None",
"entity_name": "POLR2C",
"entity_type": "gene"
},
{
"created": "2025-09-05T15:26:25.239057+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3010",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ZPR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 40776660; Phenotypes: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies MIM#619321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2025-09-05T15:06:30.279567+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.281",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: COMMD4 was added\ngene: COMMD4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: COMMD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COMMD4 were set to 40601774\nPhenotypes for gene: COMMD4 were set to Ritscher-Schinzel syndrome, MONDO:0019078, COMMD4-related\nReview for gene: COMMD4 was set to RED\nAdded comment: PMID: 40601774 3 siblings with Ritscher-Schinzel syndrome and a homozygous missense in COMMD4 NM_017828.5:c.122T>G; p.Leu41Arg. All three individuals died in infancy and the authors suggest there could be a dual diagnosis to explain the severity.\r\n\r\nThis variant was expressed in a H4 neuroglioma cell line with COMMD4 knocked out, and showed an enhanced degradative turnover compared to WT when treated with cyclohexamide. Western blot in HEK293T cells showed a decrease in the steady-state abundance of COMMD4. \r\n\r\nKnock out of COMMD4 protein leads to destabilization of the Commander complex. \nSources: Literature",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T15:05:47.426626+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.555",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: COMMD4 was added\ngene: COMMD4 was added to Callosome. Sources: Literature\nMode of inheritance for gene: COMMD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COMMD4 were set to 40601774\nPhenotypes for gene: COMMD4 were set to Ritscher-Schinzel syndrome, MONDO:0019078, COMMD4-related\nReview for gene: COMMD4 was set to RED\nAdded comment: PMID: 40601774 3 siblings with Ritscher-Schinzel syndrome and a homozygous missense in COMMD4 NM_017828.5:c.122T>G; p.Leu41Arg. All three individuals died in infancy and the authors suggest there could be a dual diagnosis to explain the severity.\r\n\r\nThis variant was expressed in a H4 neuroglioma cell line with COMMD4 knocked out, and showed an enhanced degradative turnover compared to WT when treated with cyclohexamide. Western blot in HEK293T cells showed a decrease in the steady-state abundance of COMMD4. \r\n\r\nKnock out of COMMD4 protein leads to destabilization of the Commander complex. \nSources: Literature",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T15:04:09.824051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3010",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: COMMD4 was added\ngene: COMMD4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: COMMD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COMMD4 were set to 40601774\nPhenotypes for gene: COMMD4 were set to Ritscher-Schinzel syndrome, MONDO:0019078, COMMD4-related\nReview for gene: COMMD4 was set to RED\nAdded comment: PMID: 40601774 3 siblings with Ritscher-Schinzel syndrome and a homozygous missense in COMMD4 NM_017828.5:c.122T>G; p.Leu41Arg. All three individuals died in infancy and the authors suggest there could be a dual diagnosis to explain the severity.\r\n\r\nThis variant was expressed in a H4 neuroglioma cell line with COMMD4 knocked out, and showed an enhanced degradative turnover compared to WT when treated with cyclohexamide. Western blot in HEK293T cells showed a decrease in the steady-state abundance of COMMD4. \r\n\r\nKnock out of COMMD4 protein leads to destabilization of the Commander complex. \nSources: Literature",
"entity_name": "COMMD4",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:44:50.851536+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM184B as ready",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:44:50.828603+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem184b has been classified as Green List (High Evidence).",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:44:46.255131+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM184B as Green List (high evidence)",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:44:46.248094+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem184b has been classified as Green List (High Evidence).",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:44:19.904961+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM184B as ready",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:44:19.898332+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem184b has been classified as Green List (High Evidence).",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:44:16.499420+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM184B as Green List (high evidence)",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:44:16.492859+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem184b has been classified as Green List (High Evidence).",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:43:51.550653+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM184B as ready",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:43:51.543981+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem184b has been classified as Green List (High Evidence).",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:43:45.006413+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM184B as Green List (high evidence)",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:43:44.990221+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem184b has been classified as Green List (High Evidence).",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:43:13.706140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM184B as ready",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:43:13.699139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem184b has been classified as Green List (High Evidence).",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:43:06.798675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM184B as Green List (high evidence)",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:43:06.791704+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem184b has been classified as Green List (High Evidence).",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:40:59.517368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C4orf26 as ready",
"entity_name": "C4orf26",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:40:59.513892+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is ODAPH.",
"entity_name": "C4orf26",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:40:59.495915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c4orf26 has been classified as Green List (High Evidence).",
"entity_name": "C4orf26",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:40:37.149494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C4orf26.",
"entity_name": "C4orf26",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:18:01.131795+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.554",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: TMEM184B was added\ngene: TMEM184B was added to Callosome. Sources: Literature\nMode of inheritance for gene: TMEM184B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TMEM184B were set to 39006436\nPhenotypes for gene: TMEM184B were set to Neurodevelopmental disorder (MONDO:0700092), TMEM184B-related\nReview for gene: TMEM184B was set to GREEN\nAdded comment: A cohort of 6 patients with developmental delay (5/6), corpus callosum hypoplasia (4/6), microcephaly (1/6), seizures (3/6), and ID (2/6). 2 patients also had gastrointestinal motility disruption. All 6 have de novo variants in TMEM184B, 5 missense 1 canonical splice. 1 of the missense variants has 35 hets in gnomad but the rest are absent. The authors also say they are aware of a 7th patient with overlapping features by personal communication.\r\n\r\nA knockout zebrafish model showed a dose dependent reduction in head size and body length in larvae. Knock-in of 2 of the missense variants also showed head size and body length reduction, but the other missense did not. However the other three missense failed to rescue the phenotype of a knockout zebrafish while WT and a negative control did. The authors suggest the first 2 variants are dominant negative while the latter three and loss of function.\r\n\r\nThe splice variant was shown to cause exon 7 skipping which is out of frame. \r\n\r\nTransfection of the missense and splice variants in HEK293T cells showed that all but 1 had reduced TMEM184B protein levels. \nSources: Literature",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:16:51.835881+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.195",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: TMEM184B was added\ngene: TMEM184B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TMEM184B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TMEM184B were set to 39006436\nPhenotypes for gene: TMEM184B were set to Neurodevelopmental disorder (MONDO:0700092), TMEM184B-related\nReview for gene: TMEM184B was set to GREEN\nAdded comment: A cohort of 6 patients with developmental delay (5/6), corpus callosum hypoplasia (4/6), microcephaly (1/6), seizures (3/6), and ID (2/6). 2 patients also had gastrointestinal motility disruption. All 6 have de novo variants in TMEM184B, 5 missense 1 canonical splice. 1 of the missense variants has 35 hets in gnomad but the rest are absent. The authors also say they are aware of a 7th patient with overlapping features by personal communication.\r\n\r\nA knockout zebrafish model showed a dose dependent reduction in head size and body length in larvae. Knock-in of 2 of the missense variants also showed head size and body length reduction, but the other missense did not. However the other three missense failed to rescue the phenotype of a knockout zebrafish while WT and a negative control did. The authors suggest the first 2 variants are dominant negative while the latter three and loss of function.\r\n\r\nThe splice variant was shown to cause exon 7 skipping which is out of frame. \r\n\r\nTransfection of the missense and splice variants in HEK293T cells showed that all but 1 had reduced TMEM184B protein levels. \nSources: Literature",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:15:07.674744+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.280",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: TMEM184B was added\ngene: TMEM184B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TMEM184B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TMEM184B were set to 39006436\nPhenotypes for gene: TMEM184B were set to Neurodevelopmental disorder (MONDO:0700092), TMEM184B-related\nReview for gene: TMEM184B was set to GREEN\nAdded comment: A cohort of 6 patients with developmental delay (5/6), corpus callosum hypoplasia (4/6), microcephaly (1/6), seizures (3/6), and ID (2/6). 2 patients also had gastrointestinal motility disruption. All 6 have de novo variants in TMEM184B, 5 missense 1 canonical splice. 1 of the missense variants has 35 hets in gnomad but the rest are absent. The authors also say they are aware of a 7th patient with overlapping features by personal communication.\r\n\r\nA knockout zebrafish model showed a dose dependent reduction in head size and body length in larvae. Knock-in of 2 of the missense variants also showed head size and body length reduction, but the other missense did not. However the other three missense failed to rescue the phenotype of a knockout zebrafish while WT and a negative control did. The authors suggest the first 2 variants are dominant negative while the latter three and loss of function.\r\n\r\nThe splice variant was shown to cause exon 7 skipping which is out of frame. \r\n\r\nTransfection of the missense and splice variants in HEK293T cells showed that all but 1 had reduced TMEM184B protein levels. \nSources: Literature",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T14:10:51.251387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3009",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: TMEM184B was added\ngene: TMEM184B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM184B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TMEM184B were set to 39006436\nPhenotypes for gene: TMEM184B were set to Neurodevelopmental disorder (MONDO:0700092), TMEM184B-related\nReview for gene: TMEM184B was set to GREEN\nAdded comment: A cohort of 6 patients with developmental delay (5/6), corpus callosum hypoplasia (4/6), microcephaly (1/6), seizures (3/6), and ID (2/6). 2 patients also had gastrointestinal motility disruption. All 6 have de novo variants in TMEM184B, 5 missense 1 canonical splice. 1 of the missense variants has 35 hets in gnomad but the rest are absent. The authors also say they are aware of a 7th patient with overlapping features by personal communication.\r\n\r\nA knockout zebrafish model showed a dose dependent reduction in head size and body length in larvae. Knock-in of 2 of the missense variants also showed head size and body length reduction, but the other missense did not. However the other three missense failed to rescue the phenotype of a knockout zebrafish while WT and a negative control did. The authors suggest the first 2 variants are dominant negative while the latter three and loss of function.\r\n\r\nThe splice variant was shown to cause exon 7 skipping which is out of frame. \r\n\r\nTransfection of the missense and splice variants in HEK293T cells showed that all but 1 had reduced TMEM184B protein levels. \nSources: Literature",
"entity_name": "TMEM184B",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:59:59.202020+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHLPP2 as ready",
"entity_name": "PHLPP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:59:59.195161+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phlpp2 has been classified as Red List (Low Evidence).",
"entity_name": "PHLPP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:59:54.231441+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHLPP2 as Red List (low evidence)",
"entity_name": "PHLPP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:59:54.221286+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phlpp2 has been classified as Red List (Low Evidence).",
"entity_name": "PHLPP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:58:34.298364+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHLPP2 as ready",
"entity_name": "PHLPP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:58:34.290761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phlpp2 has been classified as Red List (Low Evidence).",
"entity_name": "PHLPP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:58:28.010750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHLPP2 as Red List (low evidence)",
"entity_name": "PHLPP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:58:28.000257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phlpp2 has been classified as Red List (Low Evidence).",
"entity_name": "PHLPP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:57:27.374899+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO19 as ready",
"entity_name": "MYO19",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:57:27.367731+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo19 has been classified as Red List (Low Evidence).",
"entity_name": "MYO19",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:57:22.518134+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYO19 as Red List (low evidence)",
"entity_name": "MYO19",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:57:22.511151+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo19 has been classified as Red List (Low Evidence).",
"entity_name": "MYO19",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:57:09.336703+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO19 as ready",
"entity_name": "MYO19",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:57:09.329405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo19 has been classified as Red List (Low Evidence).",
"entity_name": "MYO19",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:57:02.059709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYO19 as Red List (low evidence)",
"entity_name": "MYO19",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:57:02.052202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo19 has been classified as Red List (Low Evidence).",
"entity_name": "MYO19",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:49:12.853181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3007",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: C4orf26: Rating: GREEN; Mode of pathogenicity: Other; Publications: 40680053; Phenotypes: Amelogenesis imperfecta, type IIA4 MONDO:0019507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C4orf26",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:12:40.919099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3007",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: 1 month old baby with severe HCM found to have compound heterozygous variants in MYO19 (missense and frameshift). The patients mother, maternal aunt and maternal grandfather also had HCM and were diagnosed as teenagers or adults. The MYO19 frameshift variant was maternally inherited, but was not present in the affected aunt or grandfather. \r\n\r\nMYO19 is a myosin located in the mitochondria, its role in cardiac function has not bene investigated.\r\n\r\nAll 4 affected individuals in this family also has variants in PHLPP2 (stop gain), CAPN1 (canonical splice) and ADAMTS8 (missense). CAPN1 is associated with biallelic HSP while the other 2 genes are not yet associated with disease. the CAPN1 and ADAMTS8 variants are present with over 10 hets in gnomad while PHLPP2 is absent.\r\n\r\nIt has previously been shown that inhibiting PHLPP2 activity increases cardiomyocyte hypertrophy. \nSources: Literature; to: 1 month old baby with severe HCM found to have compound heterozygous variants in MYO19 (missense and frameshift). The patients mother, maternal aunt and maternal grandfather also had HCM and were diagnosed as teenagers or adults. The MYO19 frameshift variant was maternally inherited, but was not present in the affected aunt or grandfather. \r\n\r\nMYO19 is a myosin located in the mitochondria, its role in cardiac function has not bene investigated.\r\n\r\nAll 4 affected individuals in this family also had variants in PHLPP2 (stop gain), CAPN1 (canonical splice) and ADAMTS8 (missense). CAPN1 is associated with biallelic HSP while the other 2 genes are not yet associated with disease. the CAPN1 and ADAMTS8 variants are present with over 10 hets in gnomad while PHLPP2 is absent.\r\n\r\nIt has previously been shown that inhibiting PHLPP2 activity increases cardiomyocyte hypertrophy. \r\nSources: Literature",
"entity_name": "MYO19",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:12:33.981988+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.200",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: 1 month old baby with severe HCM found to have compound heterozygous variants in MYO19 (missense and frameshift). The patients mother, maternal aunt and maternal grandfather also had HCM and were diagnosed as teenagers or adults. The MYO19 frameshift variant was maternally inherited, but was not present in the affected aunt or grandfather. \r\n\r\nMYO19 is a myosin located in the mitochondria, its role in cardiac function has not bene investigated.\r\n\r\nAll 4 affected individuals in this family also has variants in PHLPP2 (stop gain), CAPN1 (canonical splice) and ADAMTS8 (missense). CAPN1 is associated with biallelic HSP while the other 2 genes are not yet associated with disease. the CAPN1 and ADAMTS8 variants are present with over 10 hets in gnomad while PHLPP2 is absent.\r\n\r\nIt has previously been shown that inhibiting PHLPP2 activity increases cardiomyocyte hypertrophy. \nSources: Literature; to: 1 month old baby with severe HCM found to have compound heterozygous variants in MYO19 (missense and frameshift). The patients mother, maternal aunt and maternal grandfather also had HCM and were diagnosed as teenagers or adults. The MYO19 frameshift variant was maternally inherited, but was not present in the affected aunt or grandfather. \r\n\r\nMYO19 is a myosin located in the mitochondria, its role in cardiac function has not bene investigated.\r\n\r\nAll 4 affected individuals in this family also had variants in PHLPP2 (stop gain), CAPN1 (canonical splice) and ADAMTS8 (missense). CAPN1 is associated with biallelic HSP while the other 2 genes are not yet associated with disease. the CAPN1 and ADAMTS8 variants are present with over 10 hets in gnomad while PHLPP2 is absent.\r\n\r\nIt has previously been shown that inhibiting PHLPP2 activity increases cardiomyocyte hypertrophy. \r\nSources: Literature",
"entity_name": "MYO19",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:12:16.293956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3007",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: 1 month old baby with severe HCM found to have compound heterozygous variants in MYO19 (missense and frameshift). The patients mother, maternal aunt and maternal grandfather also had HCM and were diagnosed as teenagers or adults. The MYO19 frameshift variant was maternally inherited, but was not present in the affected aunt or grandfather. \r\n\r\nMYO19 is a myosin located in the mitochondria, its role in cardiac function has not bene investigated.\r\n\r\nAll 4 affected individuals in this family also has variants in PHLPP2 (stop gain), CAPN1 (canonical splice) and ADAMTS8 (missense). CAPN1 is associated with biallelic HSP while the other 2 genes are not yet associated with disease. the CAPN1 and ADAMTS8 variants are present with over 10 hets in gnomad while PHLPP2 is absent.\r\n\r\nIt has previously been shown that inhibiting PHLPP2 activity increases cardiomyocyte hypertrophy PMID: 29628444 \nSources: Literature; to: 1 month old baby with severe HCM found to have compound heterozygous variants in MYO19 (missense and frameshift). The patients mother, maternal aunt and maternal grandfather also had HCM and were diagnosed as teenagers or adults. The MYO19 frameshift variant was maternally inherited, but was not present in the affected aunt or grandfather. \r\n\r\nMYO19 is a myosin located in the mitochondria, its role in cardiac function has not bene investigated.\r\n\r\nAll 4 affected individuals in this family also had variants in PHLPP2 (stop gain), CAPN1 (canonical splice) and ADAMTS8 (missense). CAPN1 is associated with biallelic HSP while the other 2 genes are not yet associated with disease. the CAPN1 and ADAMTS8 variants are present with over 10 hets in gnomad while PHLPP2 is absent.\r\n\r\nIt has previously been shown that inhibiting PHLPP2 activity increases cardiomyocyte hypertrophy PMID: 29628444 \r\nSources: Literature",
"entity_name": "PHLPP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:11:44.211535+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.8",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PHLPP2 was added\ngene: PHLPP2 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: PHLPP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PHLPP2 were set to 40634996; 29628444\nPhenotypes for gene: PHLPP2 were set to Hypertrophic cardiomyopathy MONDO:0005045, PHLPP2-related\nReview for gene: PHLPP2 was set to RED\nAdded comment: 1 month old baby with severe HCM found to have compound heterozygous variants in MYO19 (missense and frameshift). The patients mother, maternal aunt and maternal grandfather also had HCM and were diagnosed as teenagers or adults. The MYO19 frameshift variant was maternally inherited, but was not present in the affected aunt or grandfather. \r\n\r\nMYO19 is a myosin located in the mitochondria, its role in cardiac function has not bene investigated.\r\n\r\nAll 4 affected individuals in this family also had variants in PHLPP2 (stop gain), CAPN1 (canonical splice) and ADAMTS8 (missense). CAPN1 is associated with biallelic HSP while the other 2 genes are not yet associated with disease. the CAPN1 and ADAMTS8 variants are present with over 10 hets in gnomad while PHLPP2 is absent.\r\n\r\nIt has previously been shown that inhibiting PHLPP2 activity increases cardiomyocyte hypertrophy PMID: 29628444. \nSources: Literature",
"entity_name": "PHLPP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:10:23.229177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3007",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PHLPP2 was added\ngene: PHLPP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PHLPP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PHLPP2 were set to 40634996; 29628444\nPhenotypes for gene: PHLPP2 were set to Hypertrophic cardiomyopathy MONDO:0005045, PHLPP2-related\nReview for gene: PHLPP2 was set to RED\nAdded comment: 1 month old baby with severe HCM found to have compound heterozygous variants in MYO19 (missense and frameshift). The patients mother, maternal aunt and maternal grandfather also had HCM and were diagnosed as teenagers or adults. The MYO19 frameshift variant was maternally inherited, but was not present in the affected aunt or grandfather. \r\n\r\nMYO19 is a myosin located in the mitochondria, its role in cardiac function has not bene investigated.\r\n\r\nAll 4 affected individuals in this family also has variants in PHLPP2 (stop gain), CAPN1 (canonical splice) and ADAMTS8 (missense). CAPN1 is associated with biallelic HSP while the other 2 genes are not yet associated with disease. the CAPN1 and ADAMTS8 variants are present with over 10 hets in gnomad while PHLPP2 is absent.\r\n\r\nIt has previously been shown that inhibiting PHLPP2 activity increases cardiomyocyte hypertrophy PMID: 29628444 \nSources: Literature",
"entity_name": "PHLPP2",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:07:31.650674+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.200",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: MYO19 was added\ngene: MYO19 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: MYO19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO19 were set to 40634996\nPhenotypes for gene: MYO19 were set to Hypertrophic cardiomyopathy MONDO:0005045, MYO19-related\nReview for gene: MYO19 was set to RED\nAdded comment: 1 month old baby with severe HCM found to have compound heterozygous variants in MYO19 (missense and frameshift). The patients mother, maternal aunt and maternal grandfather also had HCM and were diagnosed as teenagers or adults. The MYO19 frameshift variant was maternally inherited, but was not present in the affected aunt or grandfather. \r\n\r\nMYO19 is a myosin located in the mitochondria, its role in cardiac function has not bene investigated.\r\n\r\nAll 4 affected individuals in this family also has variants in PHLPP2 (stop gain), CAPN1 (canonical splice) and ADAMTS8 (missense). CAPN1 is associated with biallelic HSP while the other 2 genes are not yet associated with disease. the CAPN1 and ADAMTS8 variants are present with over 10 hets in gnomad while PHLPP2 is absent.\r\n\r\nIt has previously been shown that inhibiting PHLPP2 activity increases cardiomyocyte hypertrophy. \nSources: Literature",
"entity_name": "MYO19",
"entity_type": "gene"
},
{
"created": "2025-09-05T12:05:43.781258+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3007",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: MYO19 was added\ngene: MYO19 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MYO19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO19 were set to 40634996\nPhenotypes for gene: MYO19 were set to Hypertrophic cardiomyopathy MONDO:0005045, MYO19-related\nReview for gene: MYO19 was set to RED\nAdded comment: 1 month old baby with severe HCM found to have compound heterozygous variants in MYO19 (missense and frameshift). The patients mother, maternal aunt and maternal grandfather also had HCM and were diagnosed as teenagers or adults. The MYO19 frameshift variant was maternally inherited, but was not present in the affected aunt or grandfather. \r\n\r\nMYO19 is a myosin located in the mitochondria, its role in cardiac function has not bene investigated.\r\n\r\nAll 4 affected individuals in this family also has variants in PHLPP2 (stop gain), CAPN1 (canonical splice) and ADAMTS8 (missense). CAPN1 is associated with biallelic HSP while the other 2 genes are not yet associated with disease. the CAPN1 and ADAMTS8 variants are present with over 10 hets in gnomad while PHLPP2 is absent.\r\n\r\nIt has previously been shown that inhibiting PHLPP2 activity increases cardiomyocyte hypertrophy. \nSources: Literature",
"entity_name": "MYO19",
"entity_type": "gene"
},
{
"created": "2025-09-05T11:20:22.597926+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3D as ready",
"entity_name": "POLR3D",
"entity_type": "gene"
},
{
"created": "2025-09-05T11:20:22.590885+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3d has been classified as Red List (Low Evidence).",
"entity_name": "POLR3D",
"entity_type": "gene"
},
{
"created": "2025-09-05T11:20:10.345810+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3D was added\ngene: POLR3D was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: POLR3D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3D were set to 37915380\nPhenotypes for gene: POLR3D were set to Leukodystrophy, MONDO:0019046, POLR3D-related\nReview for gene: POLR3D was set to RED\nAdded comment: PMID 37915380: single individual with compound het variants in POLR3D and childhood onset leukodystrophy manifesting as DD/ID.\r\n\r\nAdditional neurological features included cerebellar signs (e.g., dysarthria, ataxia, and intention tremor) and dysphagia, while non-neurological features included hypodontia, hypogonadotropic hypogonadism, and dysmorphic facial features. Her MRI was notable for diffuse hypomyelination with myelin preservation of early myelinating structures, characteristic of POLR3-related leukodystrophy. Exome sequencing revealed the biallelic variants in POLR3D, a missense variant (c.541C > T, p.P181S) and an intronic splice site variant (c.656-6G > A, p.?). Functional studies of the patient's fibroblasts demonstrated significantly decreased RNA-level expression of POLR3D, along with reduced expression of other Pol III subunit genes. Notably, Pol III transcription was also shown to be aberrant, with a significant decrease in 7SK RNA and several distinct tRNA genes analyzed. Affinity purification coupled to mass spectrometry of the POLR3D p.P181S variant showed normal assembly of Pol III subunits yet altered interaction of Pol III with the PAQosome chaperone complex, indicating the missense variant is likely to alter complex maturation. \nSources: Literature",
"entity_name": "POLR3D",
"entity_type": "gene"
},
{
"created": "2025-09-05T11:18:45.382018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3D as ready",
"entity_name": "POLR3D",
"entity_type": "gene"
},
{
"created": "2025-09-05T11:18:45.374537+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3d has been classified as Red List (Low Evidence).",
"entity_name": "POLR3D",
"entity_type": "gene"
},
{
"created": "2025-09-05T11:18:37.299622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3D was added\ngene: POLR3D was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: POLR3D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3D were set to 37915380\nPhenotypes for gene: POLR3D were set to Leukodystrophy, MONDO:0019046, POLR3D-related\nReview for gene: POLR3D was set to RED\nAdded comment: PMID 37915380: single individual with compound het variants in POLR3D and childhood onset leukodystrophy manifesting as DD/ID.\r\n\r\nAdditional neurological features included cerebellar signs (e.g., dysarthria, ataxia, and intention tremor) and dysphagia, while non-neurological features included hypodontia, hypogonadotropic hypogonadism, and dysmorphic facial features. Her MRI was notable for diffuse hypomyelination with myelin preservation of early myelinating structures, characteristic of POLR3-related leukodystrophy. Exome sequencing revealed the biallelic variants in POLR3D, a missense variant (c.541C > T, p.P181S) and an intronic splice site variant (c.656-6G > A, p.?). Functional studies of the patient's fibroblasts demonstrated significantly decreased RNA-level expression of POLR3D, along with reduced expression of other Pol III subunit genes. Notably, Pol III transcription was also shown to be aberrant, with a significant decrease in 7SK RNA and several distinct tRNA genes analyzed. Affinity purification coupled to mass spectrometry of the POLR3D p.P181S variant showed normal assembly of Pol III subunits yet altered interaction of Pol III with the PAQosome chaperone complex, indicating the missense variant is likely to alter complex maturation. \nSources: Literature",
"entity_name": "POLR3D",
"entity_type": "gene"
},
{
"created": "2025-09-05T11:17:03.628498+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3D as ready",
"entity_name": "POLR3D",
"entity_type": "gene"
}
]
}