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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=175",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=173",
"results": [
{
"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"
},
{
"created": "2025-09-05T11:17:03.620651+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.324",
"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": "2025-09-05T11:16:56.344900+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3D was added\ngene: POLR3D was added to Leukodystrophy - paediatric. 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": "2025-09-05T09:48:48.618869+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAB2 as ready",
"entity_name": "STAB2",
"entity_type": "gene"
},
{
"created": "2025-09-05T09:48:48.610196+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stab2 has been classified as Red List (Low Evidence).",
"entity_name": "STAB2",
"entity_type": "gene"
},
{
"created": "2025-09-05T09:48:42.152014+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STAB2 as Red List (low evidence)",
"entity_name": "STAB2",
"entity_type": "gene"
},
{
"created": "2025-09-05T09:48:42.145415+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stab2 has been classified as Red List (Low Evidence).",
"entity_name": "STAB2",
"entity_type": "gene"
},
{
"created": "2025-09-05T09:48:15.644466+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAB2 as ready",
"entity_name": "STAB2",
"entity_type": "gene"
},
{
"created": "2025-09-05T09:48:15.637492+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stab2 has been classified as Red List (Low Evidence).",
"entity_name": "STAB2",
"entity_type": "gene"
},
{
"created": "2025-09-05T09:48:08.370367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STAB2 as Red List (low evidence)",
"entity_name": "STAB2",
"entity_type": "gene"
},
{
"created": "2025-09-05T09:48:08.359185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stab2 has been classified as Red List (Low Evidence).",
"entity_name": "STAB2",
"entity_type": "gene"
},
{
"created": "2025-09-05T09:33:44.349489+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.50",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: LDHD was added\ngene: LDHD was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: LDHD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LDHD were set to 40678184\nPhenotypes for gene: LDHD were set to D-lactic aciduria with susceptibility to gout MIM#245450\nReview for gene: LDHD was set to GREEN\nAdded comment: 8 patients summarized in PMID: 40678184 with D-Lactate Dehydrogenase Deficiency. 5 homozygous missense, 1 homozygous frameshift, 1 compound heterozygous canonical splice and missense, and 1 homozygous deletion encompassing CTRB2, ZFP1 (neither of which have a disease association) and the first 7 exons of LDHD. Three of these patients had additional variants of interest in other genes that were thought to explain extra phenotypes they had out of the typical spectrum for this disorder.\r\n\r\nSome patients only have increased plasma urate/gout however 4 also had delayed development, ataxia or epilepsy. 2 of these individuals had other genetic variants that likely explained the neurodevelopmental phenotype (11p deletion syndrome, CACNA1B), and 1 had the deletion that also affected 2 other genes of uncertain significance. So its unclear whether this gene is actually associated with a neurodevelopmental phenotype.\r\n\r\n\"Patients diagnosed with the disease human D-lactate dehydrogenase deficiency present with elevated plasma D-lactate, causing D-lactic acidosis\" \nSources: Literature",
"entity_name": "LDHD",
"entity_type": "gene"
},
{
"created": "2025-09-05T09:27:31.603681+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3005",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: LDHD was added\ngene: LDHD was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LDHD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LDHD were set to 40678184\nPhenotypes for gene: LDHD were set to D-lactic aciduria with susceptibility to gout MIM#245450\nReview for gene: LDHD was set to GREEN\nAdded comment: 8 patients summarized in PMID: 40678184 with D-Lactate Dehydrogenase Deficiency. 5 homozygous missense, 1 homozygous frameshift, 1 compound heterozygous canonical splice and missense, and 1 homozygous deletion encompassing CTRB2, ZFP1 (neither of which have a disease association) and the first 7 exons of LDHD. Three of these patients had additional variants of interest in other genes that were thought to explain extra phenotypes they had out of the typical spectrum for this disorder.\r\n\r\nSome patients only have increased plasma urate/gout however 4 also had delayed development, ataxia or epilepsy. 2 of these individuals had other genetic variants that likely explained the neurodevelopmental phenotype (11p deletion syndrome, CACNA1B), and 1 had the deletion that also affected 2 other genes of uncertain significance. So its unclear whether this gene is actually associated with a neurodevelopmental phenotype. \nSources: Literature",
"entity_name": "LDHD",
"entity_type": "gene"
},
{
"created": "2025-09-05T08:37:56.513578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3005",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: In a cohort of chronic thromboembolic pulmonary hypertension a missense in STAB2 was found in 2 related affected individuals. However, the variant Ala1665Thr is common on gnomad with over 100 hets and 4 homs. They also observed a significantly higher prevalence of 'qualifying alleles' in STAB2 in their disease cohort compared to the UK biobank- 4.6% in the disease cohort vs 1.2% in UK biobank. Qualifying alleles were rare and predicted deleterious. 78% of these variants were missense and quite a few of them also had thousands of hets and some homs in gnomad v4. \nSources: Literature; to: In a cohort of chronic thromboembolic pulmonary hypertension a missense in STAB2 was found in 2 related affected individuals. However, the variant Ala1665Thr is common on gnomad with over 1000 hets and 4 homs. They also observed a significantly higher prevalence of 'qualifying alleles' in STAB2 in their disease cohort compared to the UK biobank- 4.6% in the disease cohort vs 1.2% in UK biobank. Qualifying alleles were rare and predicted deleterious. 78% of these variants were missense and quite a few of them also had thousands of hets and some homs in gnomad v4. \r\nSources: Literature",
"entity_name": "STAB2",
"entity_type": "gene"
},
{
"created": "2025-09-05T08:37:39.419313+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.57",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: STAB2 was added\ngene: STAB2 was added to Bleeding and Platelet Disorders. Sources: Literature\nMode of inheritance for gene: STAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: STAB2 were set to 40726512\nPhenotypes for gene: STAB2 were set to Chronic thromboembolic pulmonary hypertension MONDO:0013024, STAB2-related\nReview for gene: STAB2 was set to RED\nAdded comment: PMID: 40726512 In a cohort of chronic thromboembolic pulmonary hypertension a missense in STAB2 was found in 2 related affected individuals. However, the variant Ala1665Thr is common on gnomad with over 1000 hets and 4 homs. They also observed a significantly higher prevalence of 'qualifying alleles' in STAB2 in their disease cohort compared to the UK biobank- 4.6% in the disease cohort vs 1.2% in UK biobank. Qualifying alleles were rare and predicted deleterious. 78% of these variants were missense and quite a few of them also had thousands of hets and some homs in gnomad v4. \nSources: Literature",
"entity_name": "STAB2",
"entity_type": "gene"
},
{
"created": "2025-09-05T08:33:36.426461+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3005",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: STAB2 was added\ngene: STAB2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: STAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: STAB2 were set to 40726512\nPhenotypes for gene: STAB2 were set to Chronic thromboembolic pulmonary hypertension MONDO:0013024, STAB2-related\nReview for gene: STAB2 was set to RED\nAdded comment: In a cohort of chronic thromboembolic pulmonary hypertension a missense in STAB2 was found in 2 related affected individuals. However, the variant Ala1665Thr is common on gnomad with over 100 hets and 4 homs. They also observed a significantly higher prevalence of 'qualifying alleles' in STAB2 in their disease cohort compared to the UK biobank- 4.6% in the disease cohort vs 1.2% in UK biobank. Qualifying alleles were rare and predicted deleterious. 78% of these variants were missense and quite a few of them also had thousands of hets and some homs in gnomad v4. \nSources: Literature",
"entity_name": "STAB2",
"entity_type": "gene"
},
{
"created": "2025-09-05T08:17:06.133230+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM28 were changed from Wilms tumor, MONDO:0006058; Wilms tumor predisposition, no MIM# to Wilms tumor 7, MIM# 621332",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2025-09-05T08:16:54.658269+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIM28: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilms tumor 7, MIM# 621332; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2025-09-05T08:16:32.989942+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM28 were changed from Wilms tumour, MONDO:0006058, TRIM28-related to Wilms tumor 7, MIM# 621332",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2025-09-05T08:16:19.547629+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRIM28: Changed phenotypes: Wilms tumor 7, MIM# 621332",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2025-09-05T08:15:54.101900+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM28 were changed from Wilms tumour, MONDO:0006058, TRIM28-related to Wilms tumor 7, MIM# 621332",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2025-09-05T08:15:28.533556+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRIM28: Changed phenotypes: Wilms tumor 7, MIM# 621332",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2025-09-05T07:27:30.434563+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGEF15 as ready",
"entity_name": "ARHGEF15",
"entity_type": "gene"
},
{
"created": "2025-09-05T07:27:30.375777+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef15 has been classified as Green List (High Evidence).",
"entity_name": "ARHGEF15",
"entity_type": "gene"
},
{
"created": "2025-09-05T07:27:24.772549+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARHGEF15 as Green List (high evidence)",
"entity_name": "ARHGEF15",
"entity_type": "gene"
},
{
"created": "2025-09-05T07:27:24.733797+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef15 has been classified as Green List (High Evidence).",
"entity_name": "ARHGEF15",
"entity_type": "gene"
},
{
"created": "2025-09-05T07:27:16.315864+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARHGEF15 was added\ngene: ARHGEF15 was added to Stroke. Sources: Literature\nMode of inheritance for gene: ARHGEF15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARHGEF15 were set to 36929019\nPhenotypes for gene: ARHGEF15 were set to Brain small vessel disease 5 with osteoporosis, MIM# 621331\nReview for gene: ARHGEF15 was set to GREEN\nAdded comment: 7 individuals, ranging from 42 to 60 years of age and from 4 unrelated Chinese families, who presented between 38 and 46 years of age, with cognitive and memory decline, psychiatric disturbances, and small-vessel cerebral infarction and/or intracerebral hemorrhage on brain imaging. Features included irritability, mania, anxiety, depression, and suicidal tendencies. Four different missense variants identified. Supportive functional data, including mouse model. \nSources: Literature",
"entity_name": "ARHGEF15",
"entity_type": "gene"
},
{
"created": "2025-09-05T07:25:58.377917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGEF15 were changed from to Brain small vessel disease 5 with osteoporosis, MIM# 621331",
"entity_name": "ARHGEF15",
"entity_type": "gene"
},
{
"created": "2025-09-05T07:25:44.425167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARHGEF15 were set to ",
"entity_name": "ARHGEF15",
"entity_type": "gene"
},
{
"created": "2025-09-05T07:25:30.178638+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGEF15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARHGEF15",
"entity_type": "gene"
},
{
"created": "2025-09-05T07:25:16.487251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARHGEF15 as Green List (high evidence)",
"entity_name": "ARHGEF15",
"entity_type": "gene"
},
{
"created": "2025-09-05T07:25:16.478341+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef15 has been classified as Green List (High Evidence).",
"entity_name": "ARHGEF15",
"entity_type": "gene"
},
{
"created": "2025-09-05T07:24:59.198558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARHGEF15: Added comment: 7 individuals, ranging from 42 to 60 years of age and from 4 unrelated Chinese families, who presented between 38 and 46 years of age, with cognitive and memory decline, psychiatric disturbances, and small-vessel cerebral infarction and/or intracerebral hemorrhage on brain imaging. Features included irritability, mania, anxiety, depression, and suicidal tendencies.\r\n\r\nFour different missense variants identified. Supportive functional data, including mouse model.; Changed rating: GREEN; Changed publications: 36929019; Changed phenotypes: Brain small vessel disease 5 with osteoporosis, MIM# 621331; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARHGEF15",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:43:28.914211+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TDRD9 as ready",
"entity_name": "TDRD9",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:43:28.903995+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tdrd9 has been classified as Green List (High Evidence).",
"entity_name": "TDRD9",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:43:25.575141+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TDRD9 as Green List (high evidence)",
"entity_name": "TDRD9",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:43:25.566413+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tdrd9 has been classified as Green List (High Evidence).",
"entity_name": "TDRD9",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:43:16.212453+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TDRD9 was added\ngene: TDRD9 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TDRD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDRD9 were set to 28536242; 40645105; 20059948; 39267058; 39174853; 35172124\nPhenotypes for gene: TDRD9 were set to spermatogenic failure MONDO:0004983\nReview for gene: TDRD9 was set to GREEN\nAdded comment: At least 5 families with biallelic variants (homozygous and compound heterozygous) were identified in males with spermatogenic failure (azoospermia and oligoazoospermia). Also, supporting infertile mouse model. \nSources: Literature",
"entity_name": "TDRD9",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:42:18.435430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3001",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TDRD9 as Green List (high evidence)",
"entity_name": "TDRD9",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:42:18.425288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3001",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tdrd9 has been classified as Green List (High Evidence).",
"entity_name": "TDRD9",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:41:59.933615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3000",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TDRD9 was added\ngene: TDRD9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TDRD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDRD9 were set to 28536242; 40645105; 20059948; 39267058; 39174853; 35172124\nPhenotypes for gene: TDRD9 were set to spermatogenic failure MONDO:0004983\nReview for gene: TDRD9 was set to GREEN\nAdded comment: At least 5 families with biallelic variants (homozygous and compound heterozygous) were identified in males with spermatogenic failure (azoospermia and oligoazoospermia). Also, supporting infertile mouse model. \nSources: Literature",
"entity_name": "TDRD9",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:21:15.963508+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.279",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HS6ST2 as ready",
"entity_name": "HS6ST2",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:21:15.953567+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.279",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hs6st2 has been classified as Green List (High Evidence).",
"entity_name": "HS6ST2",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:21:07.401203+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.279",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HS6ST2 as Green List (high evidence)",
"entity_name": "HS6ST2",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:21:07.394002+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.279",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hs6st2 has been classified as Green List (High Evidence).",
"entity_name": "HS6ST2",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:20:41.234898+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.278",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HS6ST2 was added\ngene: HS6ST2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HS6ST2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: HS6ST2 were set to 40686562; 30471091; 36993824; 38015989\nPhenotypes for gene: HS6ST2 were set to X-linked syndromic intellectual disability MONDO:0020119\nReview for gene: HS6ST2 was set to GREEN\nAdded comment: 4 males with a neurodevelopmental phenotype from 3 families (1 set monozygotic twins) hemizygous for rare missense variants and a supporting mouse model.\r\nPMID: 40686562 - a Chinese male child with a syndromic neurodevelopmental phenotype hemizygous c.764C>A (p.Pro255Glu) and in vitro assays showing the variant alters function. Parents were unaffected and variant was maternally inherited.\r\n\r\nPMID: 38015989 - knockout mouse model impairs dendritic spines of hippocampal neurons, and affects memory.\r\n\r\nPMID: 36993824 - an Iranian male child with a syndromic neurodevelopmental phenotype hemizygouc.979C>T p.Pro327Ser.\r\n\r\nPMID: 30471091 - Italian monozygotic male twins with a syndromic neurodevelopmental phenotype hemizygous c.916G>C (p.G306R - inherited from unaffected mother) and functional assay showing altered enzyme activity. \nSources: Literature",
"entity_name": "HS6ST2",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:19:29.043040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2999",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HS6ST2 as ready",
"entity_name": "HS6ST2",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:19:29.030698+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2999",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hs6st2 has been classified as Green List (High Evidence).",
"entity_name": "HS6ST2",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:19:23.151417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2999",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HS6ST2 as Green List (high evidence)",
"entity_name": "HS6ST2",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:19:23.144709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2999",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hs6st2 has been classified as Green List (High Evidence).",
"entity_name": "HS6ST2",
"entity_type": "gene"
},
{
"created": "2025-09-04T20:18:56.790247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2998",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HS6ST2 was added\ngene: HS6ST2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HS6ST2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: HS6ST2 were set to 40686562; 30471091; 36993824; 38015989\nPhenotypes for gene: HS6ST2 were set to X-linked syndromic intellectual disability MONDO:0020119\nReview for gene: HS6ST2 was set to GREEN\nAdded comment: 4 males with a neurodevelopmental phenotype from 3 families (1 set monozygotic twins) hemizygous for rare missense variants and a supporting mouse model.\r\nPMID: 40686562 - a Chinese male child with a syndromic neurodevelopmental phenotype hemizygous c.764C>A (p.Pro255Glu) and in vitro assays showing the variant alters function. Parents were unaffected and variant was maternally inherited.\r\n\r\nPMID: 38015989 - knockout mouse model impairs dendritic spines of hippocampal neurons, and affects memory.\r\n\r\nPMID: 36993824 - an Iranian male child with a syndromic neurodevelopmental phenotype hemizygouc.979C>T p.Pro327Ser. \r\n\r\nPMID: 30471091 - Italian monozygotic male twins with a syndromic neurodevelopmental phenotype hemizygous c.916G>C (p.G306R - inherited from unaffected mother) and functional assay showing altered enzyme activity. \nSources: Literature",
"entity_name": "HS6ST2",
"entity_type": "gene"
},
{
"created": "2025-09-04T19:34:11.327468+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: ATXN2_SCA2_CAG as ready",
"entity_name": "ATXN2_SCA2_CAG",
"entity_type": "str"
},
{
"created": "2025-09-04T19:34:11.320419+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atxn2_sca2_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN2_SCA2_CAG",
"entity_type": "str"
},
{
"created": "2025-09-04T19:33:30.226448+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: ATXN2_SCA2_CAG as Green List (high evidence)",
"entity_name": "ATXN2_SCA2_CAG",
"entity_type": "str"
},
{
"created": "2025-09-04T19:33:30.216477+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: atxn2_sca2_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN2_SCA2_CAG",
"entity_type": "str"
},
{
"created": "2025-09-04T19:33:13.524201+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: ATXN2_SCA2_CAG was added\nSTR: ATXN2_SCA2_CAG was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for STR: ATXN2_SCA2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: ATXN2_SCA2_CAG were set to 40741828\nPhenotypes for STR: ATXN2_SCA2_CAG were set to Spinocerebellar ataxia type 2 MONDO:0008458\nReview for STR: ATXN2_SCA2_CAG was set to GREEN\nSTR: ATXN2_SCA2_CAG was marked as clinically relevant\nSTR: ATXN2_SCA2_CAG was marked as current diagnostic\nAdded comment: Cohort of paediatric-onset SCA2 cases. The infantile onset group (n=9) had expansions ≥88 repeats, and the juvenile onset group (n=13) had expansions ≥43 repeats. Paediatric SCA2 phenotype includes developmental delay and seizures (infantile-onset) and cerebellar degeneration similar to adults in the juvenile group. \nSources: Literature",
"entity_name": "ATXN2_SCA2_CAG",
"entity_type": "str"
},
{
"created": "2025-09-04T17:22:28.966491+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPNS1 as ready",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:22:28.959126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spns1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:22:21.349094+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPNS1 as Amber List (moderate evidence)",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:22:21.338071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spns1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:21:28.830953+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPNS1 as ready",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:21:28.819093+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spns1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:21:24.088221+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPNS1 as Amber List (moderate evidence)",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:21:24.069407+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spns1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPNS1",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:19:00.046719+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CSMD2",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:18:35.663441+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSMD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal epilepsy - MONDO:0005384, CSMD2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSMD2",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:16:50.514433+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHD as ready",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:16:50.504244+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhd has been classified as Green List (High Evidence).",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:16:48.265642+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHD were changed from to Paragangliomas 1, with or without deafness, MIM# 168000; Pheochromocytoma, MIM# 171300",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:15:03.282021+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:14:22.289979+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHAF2 as ready",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:14:22.282791+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhaf2 has been classified as Green List (High Evidence).",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:14:19.551774+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:13:54.470966+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHAF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:06:41.048945+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:06:28.434184+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM17: Rating: AMBER; Mode of pathogenicity: None; Publications: 40841990; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:06:11.155958+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:05:43.844924+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM17: Rating: AMBER; Mode of pathogenicity: None; Publications: 40841990; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:05:31.364849+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM17 as ready",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:05:31.358233+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:05:15.406672+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:04:52.380872+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM17: Rating: AMBER; Mode of pathogenicity: None; Publications: 40841990; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM17",
"entity_type": "gene"
}
]
}