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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=483",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=481",
"results": [
{
"created": "2024-03-07T12:04:39.847913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1596",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: THBS2 were changed from {Lumbar disc herniation, susceptibility to} 603932 to {Lumbar disc herniation, susceptibility to} 603932; connective tissue disorder MONDO:0003900, THBS2-related",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:04:14.312218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1595",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: THBS2 were set to ",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:04:07.690177+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1594",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: THBS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:03:51.995460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1594",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: THBS2 as Amber List (moderate evidence)",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:03:51.983950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1594",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: thbs2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:03:07.375526+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1593",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "reviewed gene: THBS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38433265; Phenotypes: connective tissue disorder MONDO:0003900, THBS2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:02:45.169061+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.83",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:02:42.609775+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.83",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:02:40.288451+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.83",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:02:38.332988+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2330",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: DIP2C: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38421105; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), DIP2C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:02:37.791056+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.83",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:01:53.849126+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2330",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:01:16.842286+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2330",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: DIP2C was added\ngene: DIP2C was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: DIP2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DIP2C were set to PMID: 38421105\nPhenotypes for gene: DIP2C were set to Neurodevelopmental disorder (MONDO#0700092), DIP2C-related\nReview for gene: DIP2C was set to GREEN\nAdded comment: PMID: 38421105 - Twenty three patients with het DIP2C variants (10 de novo).\r\nAll patients had developmental delays affecting expressive language and speech, most had mild dev delay and ID. Four patients had seizures. Additional phenotypic findings were non-specific but recurrent anomalies did include a high anterior hair-line, prominent forehead, and a broad nasal tip. Four patients had cardiac defects (hypertrophic cardiomyopathy, atrial septal defects,and bicuspid aortic valve) \nSources: Literature",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:01:00.911934+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1593",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: UBAP1L as ready",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:01:00.899827+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1593",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ubap1l has been classified as Green List (High Evidence).",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:00:32.864758+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.83",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: THBS2 were changed from connective tissue disorder MONDO:0003900, THBS2-related to connective tissue disorder MONDO:0003900, THBS2-related",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:00:28.262507+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1593",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: UBAP1L as Green List (high evidence)",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:00:28.251651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1593",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ubap1l has been classified as Green List (High Evidence).",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:00:09.357858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1592",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: UBAP1L as Green List (high evidence)",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:00:09.344315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1592",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ubap1l has been classified as Green List (High Evidence).",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:59:45.704188+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.83",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: THBS2 as ready",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:59:45.688774+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.83",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: thbs2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:59:43.959949+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.83",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: THBS2 were changed from connective tissue disorder MONDO:0003900, THBS2-related to connective tissue disorder MONDO:0003900, THBS2-related",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:59:16.660359+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.82",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: THBS2 were changed from Ehlers-Danlos syndrome to connective tissue disorder MONDO:0003900, THBS2-related",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:59:13.277279+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1591",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: DIP2C as ready",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:59:13.265464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1591",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dip2c has been classified as Green List (High Evidence).",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:59:10.944048+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.82",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "edited their review of gene: THBS2: Added comment: One family with autosomal dominant inheritance of a THBS2 missense variant (NM_003247.5:c.2686T>C p.Cys896Arg). The index patient in this family presented with a history of multiple joint dislocations, easy bruising, prolonged wound healing and a diagnosis of bilateral greater saphenous vein insufficiency.\r\n\r\nThis individual's mother who also carries the variant was noted as having prolonged bleeding, thickened mitral valve and dilated aortic arch.\r\n\r\nNo other variants in 15 known EDS-related genes were identified in the index individual. Sanger sequencing confirmed this variants presence in the two other affected family members and its absence in an unaffected member.\r\n\r\nMouse knock-in of this variant demonstrated that mutant mice had hyper-flexibility of their tails and dramatically longer bleeding times when compared with wildtype mice.; Changed phenotypes: connective tissue disorder MONDO:0003900, THBS2-related",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:59:09.750392+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5717",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: DIP2C as ready",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:59:09.737799+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5717",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dip2c has been classified as Green List (High Evidence).",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:59:09.004219+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC12A9 as Green List (high evidence)",
"entity_name": "SLC12A9",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:59:08.992136+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A9",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:59:02.178630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1591",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: APOLD1 as ready",
"entity_name": "APOLD1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:59:02.165698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1591",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: apold1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "APOLD1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:58:48.464877+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.82",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: THBS2 as Amber List (moderate evidence)",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:58:48.449361+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.82",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: thbs2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:58:38.303820+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5717",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DIP2C as Green List (high evidence)",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:58:38.293985+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5717",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dip2c has been classified as Green List (High Evidence).",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:58:21.762698+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.82",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: THBS2 as Amber List (moderate evidence)",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:58:21.751631+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.82",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: thbs2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:58:06.544328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOGARAM2 as ready",
"entity_name": "TOGARAM2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:58:06.468244+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: togaram2 has been classified as Red List (Low Evidence).",
"entity_name": "TOGARAM2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:58:03.358575+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.81",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "commented on gene: THBS2: One family with autosomal dominant inheritance of a THBS2 missense variant (NM_003247.5:c.2686T>C p.Cys896Arg). The index patient in this family presented with a history of multiple joint dislocations, easy bruising, prolonged wound healing and a diagnosis of bilateral greater saphenous vein insufficiency.\r\n\r\nThis individual's mother who also carries the variant was noted as having prolonged bleeding, thickened mitral valve and dilated aortic arch.\r\n\r\nNo other variants in 15 known EDS-related genes were identified in the index individual. Sanger sequencing confirmed this variants presence in the two other affected family members and its absence in an unaffected member.\r\n\r\nMouse knock-in of this variant demonstrated that mutant mice had hyper-flexibility of their tails and dramatically longer bleeding times when compared with wildtype mice.",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:58:03.091876+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC12A9 as Green List (high evidence)",
"entity_name": "SLC12A9",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:58:03.073880+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A9",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:58:00.704465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1591",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: APOLD1 as Amber List (moderate evidence)",
"entity_name": "APOLD1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:58:00.690559+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1591",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: apold1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "APOLD1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:57:57.752317+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.81",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "commented on gene: THBS2: One family with autosomal dominant inheritance of a THBS2 missense variant (NM_003247.5:c.2686T>C p.Cys896Arg). The index patient in this family presented with a history of multiple joint dislocations, easy bruising, prolonged wound healing and a diagnosis of bilateral greater saphenous vein insufficiency.\r\n\r\nThis individual's mother who also carries the variant was noted as having prolonged bleeding, thickened mitral valve and dilated aortic arch.\r\n\r\nNo other variants in 15 known EDS-related genes were identified in the index individual. Sanger sequencing confirmed this variants presence in the two other affected family members and its absence in an unaffected member.\r\n\r\nMouse knock-in of this variant demonstrated that mutant mice had hyper-flexibility of their tails and dramatically longer bleeding times when compared with wildtype mice.",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:57:52.554623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1590",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DIP2C as Green List (high evidence)",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:57:52.478867+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1590",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dip2c has been classified as Green List (High Evidence).",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:57:39.715859+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOGARAM2 as Red List (low evidence)",
"entity_name": "TOGARAM2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:57:39.703250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: togaram2 has been classified as Red List (Low Evidence).",
"entity_name": "TOGARAM2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:57:18.666313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1589",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - Twelve unrelated families with Hungary, the United States, Israel, Tunisia and the Netherlands with members presenting with autosomal recessive rod-cone or cone-rod dystrophy\r\n- Reported variants included splice, nonsense, frameshift and in-frame del variants\r\n- Age of disease onset was very variable, with some patients experiencing first symptoms during their fourth decade of life or later. \nSources: Literature; to: - Twelve unrelated families with Hungary, the United States, Israel, Tunisia and the Netherlands with members presenting with autosomal recessive rod-cone or cone-rod dystrophy\r\n- Reported variants included splice, nonsense, frameshift and in-frame del variants\r\n- Age of disease onset was very variable, with some patients experiencing first symptoms during their fourth decade of life or later. \r\nSources: Literature",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:57:17.556276+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5716",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Neurodevelopmental disorder (MONDO:0700092), SNF8-related",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:57:13.623695+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.81",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "edited their review of gene: THBS2: Added comment: One family with autosomal dominant inheritance of a THBS2 missense variant (NM_003247.5:c.2686T>C p.Cys896Arg). The index patient in this family presented with a history of multiple joint dislocations, easy bruising, prolonged wound healing and a diagnosis of bilateral greater saphenous vein insufficiency.\r\n\r\nThis individual's mother who also carries the variant was noted as having prolonged bleeding, thickened mitral valve and dilated aortic arch.\r\n\r\nNo other variants in 15 known EDS-related genes were identified in the index individual. Sanger sequencing confirmed this variants presence in the two other affected family members and its absence in an unaffected member.\r\n\r\nMouse knock-in of this variant demonstrated that mutant mice had hyper-flexibility of their tails and dramatically longer bleeding times when compared with wildtype mice.; Changed phenotypes: connective tissue disorder MONDO:0003900",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:57:13.253665+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1589",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: CORIN: Rating: RED; Mode of pathogenicity: None; Publications: 37913506, 15637153; Phenotypes: ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:57:08.643235+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.13",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SNUPN as ready",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:57:08.628721+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.13",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: snupn has been classified as Green List (High Evidence).",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:57:01.790497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1589",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SNUPN as ready",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:57:01.776125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1589",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: snupn has been classified as Green List (High Evidence).",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:54.461009+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.81",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: THBS2 as Amber List (moderate evidence)",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:54.372393+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.81",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: thbs2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:52.215844+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.27",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SNUPN as ready",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:52.198335+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.27",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: snupn has been classified as Green List (High Evidence).",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:37.857284+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.28",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: APOLD1 as ready",
"entity_name": "APOLD1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:37.780075+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.28",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: apold1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "APOLD1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:35.294001+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.2",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CORIN as ready",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:35.279418+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.2",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: corin has been classified as Red List (Low Evidence).",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:29.244355+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC12A9 as Green List (high evidence)",
"entity_name": "SLC12A9",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:29.170063+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A9",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:22.744347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOGARAM2 as Red List (low evidence)",
"entity_name": "TOGARAM2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:22.656548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: togaram2 has been classified as Red List (Low Evidence).",
"entity_name": "TOGARAM2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:20.276159+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5715",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: ZSCAN10 was added\ngene: ZSCAN10 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZSCAN10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZSCAN10 were set to PMID: 38386308\nPhenotypes for gene: ZSCAN10 were set to Syndromic disease MONDO:0002254\nReview for gene: ZSCAN10 was set to GREEN\nAdded comment: Bi-allelic ZSCAN10 loss-of-function variants were identified in seven affected individuals from five unrelated families with syndromic neurodevelopmental disorder.\r\n\r\nHighly consistent phenotypic features include global developmental delay, behavioural abnormalities, and variable facial asymmetry with outer and inner ear malformations leading to profound SNHL.\r\n\r\nFacial asymmetry was recapitulated in the Zscan10 mouse model along with inner and outer ear malformations. \nSources: Literature",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:15.527331+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.2",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CORIN as Red List (low evidence)",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:15.514045+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.2",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: corin has been classified as Red List (Low Evidence).",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:00.741778+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.13",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SNUPN as Green List (high evidence)",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:56:00.681629+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.13",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: snupn has been classified as Green List (High Evidence).",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:55:56.163604+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.27",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SNUPN as Green List (high evidence)",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:55:56.119880+11:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.27",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: snupn has been classified as Green List (High Evidence).",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:55:50.259896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1588",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: UBAP1L was added\ngene: UBAP1L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UBAP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBAP1L were set to PMID: 38293907; 38420906\nPhenotypes for gene: UBAP1L were set to Cone-rod dystrophy (MONDO:0015993), UBAP1L-related\nReview for gene: UBAP1L was set to GREEN\ngene: UBAP1L was marked as current diagnostic\nAdded comment: - Twelve unrelated families with Hungary, the United States, Israel, Tunisia and the Netherlands with members presenting with autosomal recessive rod-cone or cone-rod dystrophy\r\n- Reported variants included splice, nonsense, frameshift and in-frame del variants\r\n- Age of disease onset was very variable, with some patients experiencing first symptoms during their fourth decade of life or later. \nSources: Literature",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:55:27.470092+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.28",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: APOLD1 as Amber List (moderate evidence)",
"entity_name": "APOLD1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:55:27.443830+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.28",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: apold1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "APOLD1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:55:09.666466+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.81",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: THBS2 as Amber List (moderate evidence)",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:55:09.644347+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.81",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: thbs2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THBS2",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:54:50.927714+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.1",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: CORIN was added\ngene: CORIN was added to Atrial Fibrillation. Sources: Expert list\nMode of inheritance for gene: CORIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CORIN were set to 37913506; 15637153\nPhenotypes for gene: CORIN were set to ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734)\nReview for gene: CORIN was set to RED\nAdded comment: Two siblings with a homozygous loss-of-function variant in CORIN. Both presented with left atrial hypertrophic cardiomyopathy, hypertension, fibrosis, and arrhythmia isolated to the left atrium. A plasma sample obtained from one of the siblings had no detectable levels of corin.\r\n\r\nOne sibling also had a het variant, p.(Ser571Thr), in PKP2 (associated with AD ARVC). The PKP2 variant is LP/VUS in ClinVar.\r\n\r\nCor-/- mice exhibit cardiac hypertrophy resulting in a mild decline in cardiac function later in life. Cor-/- mice also have spontaneous hypertension. \nSources: Expert list",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:54:50.050767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1588",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SNUPN as Green List (high evidence)",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:54:49.978264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1588",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: snupn has been classified as Green List (High Evidence).",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:54:48.620260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1587",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: CELSR3 was added\ngene: CELSR3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CELSR3 were set to PMID: 38429302\nPhenotypes for gene: CELSR3 were set to Neurodevelopmental disorder (MONDO#0700092), CELSR3-related\nReview for gene: CELSR3 was set to GREEN\nAdded comment: PMID: 38429302:12 affected individuals from 11 families reported with bi-allelic variants. Phenotype ranged from CNS anomalies (7/12), CNS and CAKUT (3/12) and CAKUT only (2/12). Only missense variants reported and 1 inframe variant. Functional studies done in zebrafish demonstrate similar structural anomalies of the developing pronephros and neuronal abnormalities to affected individuals\r\n\r\nPMID: 34951123: 5 het missense variants reported in patients with febrile seizures (FS)/epilepsy. Arg3141Gln present in gnomAD (7 hets). No functional studies. Summarised as potentially associated with febrile seizures (FS)/epilepsy \nSources: Literature",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:54:46.753986+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5715",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Neurodevelopmental disorder (MONDO:0700092), SNF8-related",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:54:38.263476+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.172",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: ZSCAN10 was added\ngene: ZSCAN10 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: ZSCAN10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZSCAN10 were set to PMID: 38386308\nPhenotypes for gene: ZSCAN10 were set to Syndromic disease MONDO:0002254\nReview for gene: ZSCAN10 was set to GREEN\nAdded comment: Bi-allelic ZSCAN10 loss-of-function variants were identified in seven affected individuals from five unrelated families with syndromic neurodevelopmental disorder.\r\n\r\nHighly consistent phenotypic features include global developmental delay, behavioural abnormalities, and variable facial asymmetry with outer and inner ear malformations leading to profound SNHL.\r\n\r\nFacial asymmetry was recapitulated in the Zscan10 mouse model along with inner and outer ear malformations. \nSources: Literature",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:54:36.050942+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBAP1L as ready",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:54:35.976168+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubap1l has been classified as Green List (High Evidence).",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:54:31.576092+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBAP1L as Green List (high evidence)",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:54:31.560248+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubap1l has been classified as Green List (High Evidence).",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:54:06.557145+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1587",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: PMID: 35638551\r\n1 family with an atypical inherited bleeding disorder characterised by severe spontaneous bleeding episodes in childhood and microcirculatory problems. 4 affected individuals across 2 generations have R49*in APOLD1, another affected individual from a third generation was not able to be sequenced = 4 meiosis. 4 unaffected individuals did not have the variant. \r\n\r\nThis gene has no NMD region, R49* would affect 82% of the protein. Paper is not using the MANE select transcript, alt p. in MANE select is R18* which affects 92% of the MANE select protein\r\n\r\nInterestingly R49* is created by a delins/2 missense in cis, 1 common R49Q and 1 rare R49W, some UNaffected family members just have the common missense without the other in cis.\r\n\r\nImmunofluorescence studies in patient platelets showed a 50% reduction of APOLD1 and disrupted cytoskeletal and junctional organization. \nSources: Literature; to: PMID: 35638551\r\n1 family with an atypical inherited bleeding disorder characterised by severe spontaneous bleeding episodes in childhood and microcirculatory problems. 4 affected individuals across 2 generations have R49*in APOLD1, another affected individual from a third generation was not able to be sequenced = 4 meiosis. 4 unaffected individuals did not have the variant. \r\n\r\nThis gene has no NMD region, R49* would affect 82% of the protein. Paper is not using the MANE select transcript, alt p. in MANE select is R18* which affects 92% of the MANE select protein\r\n\r\nInterestingly R49* is created by a delins/2 missense in cis, 1 common R49Q and 1 rare R49W, some UNaffected family members just have the common missense without the other in cis.\r\n\r\nImmunofluorescence studies in patient platelets showed a 50% reduction of APOLD1 and disrupted cytoskeletal and junctional organization. \r\n\r\nSiRNA silencing of APOLD1 in HBDEC cells resulted in altered cell shape and size, and were associated with endothelial cell junction dismantling. These cells were also almost devoid of VWF.\r\nSources: Literature",
"entity_name": "APOLD1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:53:53.170471+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.27",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: PMID: 35638551\r\n1 family with an atypical inherited bleeding disorder characterised by severe spontaneous bleeding episodes in childhood and microcirculatory problems. 4 affected individuals across 2 generations have R49*in APOLD1, another affected individual from a third generation was not able to be sequenced = 4 meiosis. 4 unaffected individuals did not have the variant. \r\n\r\nThis gene has no NMD region, R49* would affect 82% of the protein. Paper is not using the MANE select transcript, alt p. in MANE select is R18* which affects 92% of the MANE select protein\r\n\r\nInterestingly R49* is created by a delins/2 missense in cis, 1 common R49Q and 1 rare R49W, some UNaffected family members just have the common missense without the other in cis.\r\n\r\nImmunofluorescence studies in patient platelets showed a 50% reduction of APOLD1 and disrupted cytoskeletal and junctional organization. \nSources: Literature; to: PMID: 35638551\r\n1 family with an atypical inherited bleeding disorder characterised by severe spontaneous bleeding episodes in childhood and microcirculatory problems. 4 affected individuals across 2 generations have R49*in APOLD1, another affected individual from a third generation was not able to be sequenced = 4 meiosis. 4 unaffected individuals did not have the variant. \r\n\r\nThis gene has no NMD region, R49* would affect 82% of the protein. Paper is not using the MANE select transcript, alt p. in MANE select is R18* which affects 92% of the MANE select protein\r\n\r\nInterestingly R49* is created by a delins/2 missense in cis, 1 common R49Q and 1 rare R49W, some UNaffected family members just have the common missense without the other in cis.\r\n\r\nImmunofluorescence studies in patient platelets showed a 50% reduction of APOLD1 and disrupted cytoskeletal and junctional organization. \r\n\r\nSiRNA silencing of APOLD1 in HBDEC cells resulted in altered cell shape and size, and were associated with endothelial cell junction dismantling. These cells were also almost devoid of VWF.\r\nSources: Literature",
"entity_name": "APOLD1",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:53:45.754304+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5715",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Neurodevelopmental disorder (MONDO:0700092), SNF8-related",
"entity_name": "SNF8",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:53:22.297669+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1587",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: ZSCAN10 was added\ngene: ZSCAN10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZSCAN10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZSCAN10 were set to PMID: 38386308\nPhenotypes for gene: ZSCAN10 were set to syndromic disease MONDO:0002254\nReview for gene: ZSCAN10 was set to GREEN\nAdded comment: Bi-allelic ZSCAN10 loss-of-function variants were identified in seven affected individuals from five unrelated families with syndromic neurodevelopmental disorder. \r\n\r\nHighly consistent phenotypic features include global developmental delay, behavioural abnormalities, and variable facial asymmetry with outer and inner ear malformations leading to profound SNHL.\r\n\r\nFacial asymmetry was recapitulated in the Zscan10 mouse model along with inner and outer ear malformations. \nSources: Literature",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:53:17.347600+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.53",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: UBAP1L was added\ngene: UBAP1L was added to Cone-rod Dystrophy. Sources: Literature\nMode of inheritance for gene: UBAP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBAP1L were set to PMID: 38293907; 38420906\nPhenotypes for gene: UBAP1L were set to Cone-rod dystrophy (MONDO:0015993), UBAP1L-related\nReview for gene: UBAP1L was set to GREEN\ngene: UBAP1L was marked as current diagnostic\nAdded comment: - Twelve unrelated families with Hungary, the United States, Israel, Tunisia and the Netherlands with members presenting with autosomal recessive rod-cone or cone-rod dystrophy\r\n- Reported variants included splice, nonsense, frameshift and in-frame del variants\r\n- Age of disease onset was very variable, with some patients experiencing first symptoms during their fourth decade of life or later. \nSources: Literature",
"entity_name": "UBAP1L",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:53:08.165256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A9 as ready",
"entity_name": "SLC12A9",
"entity_type": "gene"
},
{
"created": "2024-03-07T11:53:08.153498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A9",
"entity_type": "gene"
}
]
}