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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1759",
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"results": [
{
"created": "2020-06-25T19:00:10.979848+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LOX were set to ",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:59:37.695718+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:58:12.174477+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN1 as ready",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:58:12.164737+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:58:09.122655+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBN1 were changed from to Marfan syndrome (154700); MASS syndrome (604308)",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:57:27.197150+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBN1 were set to ",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:56:58.793540+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:56:10.550230+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL5A1 as ready",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:56:10.540460+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col5a1 has been classified as Green List (High Evidence).",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:56:07.227554+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL5A1 were changed from to Ehlers-Danlos syndrome, classic type, 1, MIM#\t130000",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:55:19.829512+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL5A1 were set to ",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:54:48.301543+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:53:58.951839+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL3A1 as ready",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:53:58.942349+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Green List (High Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:53:54.061688+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL3A1 were changed from to Ehlers-Danlos syndrome, vascular type, MIM#\t130050; Polymicrogyria with or without vascular-type EDS, MIM#\t618343",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:53:12.040025+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:30:33.951046+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL3A1 were set to ",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:29:48.159895+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL3A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:27:56.355915+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL1A1 as ready",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:27:56.346191+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col1a1 has been classified as Green List (High Evidence).",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:27:51.444895+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL1A1 were changed from to Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#\t130060",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:27:28.055894+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL1A1 were set to ",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:26:59.312045+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL1A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:25:41.426237+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBS as ready",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:25:41.412162+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Green List (High Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:25:38.208246+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CBS were changed from to Homocystinuria (MIM# 236200)",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:25:07.894699+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CBS were set to ",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:24:36.745647+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:24:05.605389+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:22:47.461284+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BGN as ready",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:22:47.455988+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Females variably affected.",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:22:47.416894+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bgn has been classified as Green List (High Evidence).",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:22:28.834667+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BGN as ready",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:22:28.821703+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bgn has been classified as Green List (High Evidence).",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:22:25.779207+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BGN was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:21:52.017836+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BGN were set to ",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:21:04.035899+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BGN were changed from to Meester-Loeys syndrome, MIM#\t300989",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:18:58.631324+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTA2 as ready",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:18:58.620627+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acta2 has been classified as Green List (High Evidence).",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:17:20.631780+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTA2 were changed from to Aortic aneurysm, familial thoracic 6, MIM#\t611788",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:14:00.401142+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTA2 were set to ",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:13:22.683967+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:12:42.653856+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABL1 as ready",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:12:42.638973+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abl1 has been classified as Green List (High Evidence).",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:12:39.844171+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABL1 were changed from to Congenital heart defects and skeletal malformations syndrome (MIM# 617602)",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:12:24.828559+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HFE as Red List (low evidence)",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:12:24.818881+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hfe has been classified as Red List (Low Evidence).",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:12:09.910466+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABL1 were set to ",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T18:11:42.292689+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T17:49:31.383486+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DIAPH2 as ready",
"entity_name": "DIAPH2",
"entity_type": "gene"
},
{
"created": "2020-06-25T17:49:31.369473+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: diaph2 has been classified as Red List (Low Evidence).",
"entity_name": "DIAPH2",
"entity_type": "gene"
},
{
"created": "2020-06-25T17:49:14.651781+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DIAPH2.",
"entity_name": "DIAPH2",
"entity_type": "gene"
},
{
"created": "2020-06-25T17:48:57.154639+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DIAPH2 as Red List (low evidence)",
"entity_name": "DIAPH2",
"entity_type": "gene"
},
{
"created": "2020-06-25T17:48:57.142012+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: diaph2 has been classified as Red List (Low Evidence).",
"entity_name": "DIAPH2",
"entity_type": "gene"
},
{
"created": "2020-06-25T17:48:46.081229+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DIAPH2: Rating: RED; Mode of pathogenicity: None; Publications: 9497258, 30689869, 26175800, 11129329; Phenotypes: ?Premature ovarian failure 2A MIM#300511; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "DIAPH2",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:52:53.437570+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.30",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Well-known association with classic Ehlers-Danlos syndrome e.g. PMID 22696272. Reviewed in PMID 20847697 and GeneReviews (Available from: https://www.ncbi.nlm.nih.gov/books/NBK1244/). \nSources: Literature; to: Well-known association with classic Ehlers-Danlos syndrome e.g. PMID 22696272. Variants in this gene make up ~14% of cases. Reviewed in PMID 20847697 and GeneReviews (Available from: https://www.ncbi.nlm.nih.gov/books/NBK1244/). \r\nSources: Literature",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:50:09.754261+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.30",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: COL5A2 was added\ngene: COL5A2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COL5A2 were set to 20847697; 22696272\nPhenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome, classic type, 2, MIM#120190\nPenetrance for gene: COL5A2 were set to unknown\nReview for gene: COL5A2 was set to GREEN\ngene: COL5A2 was marked as current diagnostic\nAdded comment: Well-known association with classic Ehlers-Danlos syndrome e.g. PMID 22696272. Reviewed in PMID 20847697 and GeneReviews (Available from: https://www.ncbi.nlm.nih.gov/books/NBK1244/). \nSources: Literature",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:33:09.782808+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.30",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: MED12: Changed rating: GREEN",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:31:48.723707+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.30",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: SMAD4: Changed rating: GREEN; Changed publications: 30071989, 25931195, 25931195, 30809044",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:30:49.689491+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.30",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: \"Limited evidence\" for association with aortic dilatation/dissection by ClinGen:\r\n\r\n\"Eight genes scored as moderate (EFEMP2) or limited (ELN, FBN2, FLNA, NOTCH1,\r\nSLC2A10, SMAD4, and SKI) for association with HTAAD. These genes are a heterogeneous group for which the evidence was often difficult to assess...the evidence, therefore, for their association with a presentation of aortic dilatation and/or dissection is often rather lacking. The other common feature of these conditions is that there is no robust evidence of progression to aortic dissection.\"\r\n\r\nThe ClinGen review of SMAD4, viewable in the supplementary material, dates to 22/12/2016 and so does not account for the reported individuals in PMID 30809044.\r\n\r\nGreen in PanelApp UK although with quite a few Amber reviews. \r\n\r\nThere is an association between people with with SMAD4 variants and aortic dissection (PMID 25931195).; to: \"Limited evidence\" for association with aortic dilatation/dissection by ClinGen:\r\n\r\n\"Eight genes scored as moderate (EFEMP2) or limited (ELN, FBN2, FLNA, NOTCH1,\r\nSLC2A10, SMAD4, and SKI) for association with HTAAD. These genes are a heterogeneous group for which the evidence was often difficult to assess...the evidence, therefore, for their association with a presentation of aortic dilatation and/or dissection is often rather lacking. The other common feature of these conditions is that there is no robust evidence of progression to aortic dissection.\"\r\n\r\n\r\nGreen in PanelApp UK although with quite a few Amber reviews. \r\n\r\nThere is an association between people with with SMAD4 variants and aortic dissection (PMID 25931195). The ClinGen review of SMAD4, viewable in the supplementary material, dates to 22/12/2016 and so does not account for the reported individuals in PMID 30809044. Given this more recent data Green is appropriate.",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:23:03.712486+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C1S as Amber List (moderate evidence)",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:23:03.699625+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1s has been classified as Amber List (Moderate Evidence).",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:21:51.858595+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.29",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: 5 unrelated individuals with TAAD (PMID:27632686) plus mouse model (PMID:17502576) \r\n\r\nPMID:27632686\r\nProband associated with syndromic TAAD: c.5G>A, p.Trp2*, 21 kb del: chrX:152767424-152787984 28 kb del: chrX:152768438-152795976, c.908A>C, p.Gln303Pro, c.238G>A, p.Gly80Ser. Some segregation evidence and mutation-carrying females ranged from unaffected upon repeated echocardiographic evaluation over aortic root dilatation to death due to aortic dissection.\r\nPMID:17502576\r\nBiglycan deficiency in male BALB/cA mice has been shown to lead to sudden death due to aortic rupture.\r\n\r\nGEL PanelApp: As per evidence above.\r\n\r\nClinGen assessment uncertain due to focuses on isolated TAAD; however support involvement of BGN in syndromic TAAD: \"Strong for syndromic , X-linked TAAD and “limited” for isolated TAAD. The curation shows strong assertion with syndromic TAAD. There was 1 reported proband with isolated TAAD harboring variant in this gene. Given this, the association with isolated TAAD should be limited.\"; to: 5 unrelated individuals with TAAD (PMID:27632686) plus mouse model (PMID:17502576) \r\n\r\nPMID:27632686\r\nProband associated with syndromic TAAD: c.5G>A, p.Trp2*, 21 kb del: chrX:152767424-152787984 28 kb del: chrX:152768438-152795976, c.908A>C, p.Gln303Pro, c.238G>A, p.Gly80Ser. Some segregation evidence and mutation-carrying females ranged from unaffected upon repeated echocardiographic evaluation over aortic root dilatation to death due to aortic dissection.\r\nPMID:17502576\r\nBiglycan deficiency in male BALB/cA mice has been shown to lead to sudden death due to aortic rupture.\r\n\r\nGEL PanelApp: As per evidence above.\r\n\r\nClinGen assessment uncertain due to focus on isolated TAAD; however support involvement of BGN in syndromic TAAD: \"Strong for syndromic , X-linked TAAD and “limited” for isolated TAAD. The curation shows strong assertion with syndromic TAAD. There was 1 reported proband with isolated TAAD harboring variant in this gene. Given this, the association with isolated TAAD should be limited.\"",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:19:12.704590+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30343942; Phenotypes: Turnpenny-Fry syndrome, MIM#600346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:19:07.020575+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2709",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: UBE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24053514, 16909393; Phenotypes: Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:17:39.838298+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:15:17.032878+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.29",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: \"Uncertain\" by ClinGen. 43 patients from 11 families reported in PMID 25835445 but this seemed insufficient for the ClinGen working group.; to: \"Uncertain\" by ClinGen. 43 patients from 11 families with syndromic presentations of aortic aneurysms reported in PMID 25835445 but this seemed insufficient for the ClinGen working group.",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:14:57.021016+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.29",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: \"Uncertain\" by ClinGen. Quite a few individuals in PMID 25835445 but this seemed insufficient for the ClinGen working group.; to: \"Uncertain\" by ClinGen. 43 patients from 11 families reported in PMID 25835445 but this seemed insufficient for the ClinGen working group.",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:14:52.909962+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 28288113; Phenotypes: Congenital heart defects and skeletal malformations syndrome (MIM# 617602); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:14:02.320896+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.29",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: \"Uncertain\" by ClinGen. 3 unrelated individuals in PMID 25835445 but this was insufficient for the ClinGen working group.; to: \"Uncertain\" by ClinGen. Quite a few individuals in PMID 25835445 but this seemed insufficient for the ClinGen working group.",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:10:45.702268+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNA as ready",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:10:45.692295+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:10:42.943082+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLNA were changed from to Heterotopia, periventricular, 1 MIM# 300049; Cardiac valvular dysplasia, X-linked MIM# 314400.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:10:24.700899+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.1",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "edited their review of gene: HFE: Changed publications: 30683557",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:10:19.117035+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLNA were set to ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:09:55.969387+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-06-25T16:06:45.521450+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HFE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Porphyria cutanea tarda, susceptibility to} 176100, {Porphyria variegata, susceptibility to} 176200; Mode of inheritance: None",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:56:36.627410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3157",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681085; Phenotypes: Luscan-Lumish syndrome, 616831 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:47:44.706786+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AXL as ready",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:47:44.698237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: axl has been classified as Amber List (Moderate Evidence).",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:46:34.809818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AXL as Amber List (moderate evidence)",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:46:34.798143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: axl has been classified as Amber List (Moderate Evidence).",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:45:36.996623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AXL was added\ngene: AXL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AXL were set to 18787040; 24476074\nPhenotypes for gene: AXL were set to Kallman syndrome; normosmic idiopathic hypogonadotropic hypogonadism\nReview for gene: AXL was set to AMBER\nAdded comment: Axl null mice had delayed first oestrus and persistently abnormal oestrous cyclicality compared with wild-type controls. Only a single study reported screening human cases. In a screen of 104 probands with KS or nIHH, four heterozygous AXL mutations were identified in two KS and two nIHH unrelated subjects (two males and two females). Three of the variants appear to be too common in gnomAD v2.1 given the reported prevalence of KS reported in GeneReviews (1:30,000 in males and 1:125,000 in females): c.587-6C>T (normal splicing in RNA studies, NFE AF 0.0001472), p.Q361P (NFE 0.002560), p.L50F (AJ 0.004405). The other variant p.S202C (4 hets, 1 female in gnomAD v2.1) is rare enough in gnomAD for a dominant disorder. In vitro functional assays were conducted and p.S202C had an significant effect on function, but so did the more common variant p.Q361P. \nSources: Literature",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:43:54.186837+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: AXL were changed from to Kallman syndrome; normosmic idiopathic hypogonadotropic hypogonadism",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:43:38.777480+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: AXL were set to ",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:41:46.137174+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AXL as ready",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:41:46.128257+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: axl has been classified as Amber List (Moderate Evidence).",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:41:37.175552+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AXL as Amber List (moderate evidence)",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:41:37.164369+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: axl has been classified as Amber List (Moderate Evidence).",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:41:23.233659+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: AXL: Rating: AMBER; Mode of pathogenicity: None; Publications: 18787040, 24476074; Phenotypes: Kallman syndrome, normosmic idiopathic hypogonadotropic hypogonadism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:25:42.900177+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.1",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 27982422; Phenotypes: Porphyria variegata, MIM#600923; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:19:14.079690+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30071989, 19938245, 17369503; Phenotypes: heritable thoracic aortic aneurysm and dissection, Opitz-Kaveggia syndrome (FS syndrome), X-Linked Ohdo Syndrome (XLOS), Lujan Syndrome (LS); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:18:16.488458+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989, 29334594.; Phenotypes: Heterotopia, periventricular, 1 MIM# 300049, Cardiac valvular dysplasia, X-linked MIM# 314400.; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-06-25T15:07:47.854932+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.1",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: None; Publications: 9792863; Phenotypes: Porphyria cutanea tarda; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-06-25T14:57:35.002998+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Not reviewed by ClinGen Aortopathy Working Group.\r\n\r\nNot on any relevant PanelApp UK panel although green on others.\r\n\r\n11 unrelated individuals and a pair of monozygotic twins were reported all with missense variants at proline 65. 5 individuals had aortic dilatation.; to: Not reviewed by ClinGen Aortopathy Working Group.\r\n\r\nNot on any relevant PanelApp UK panel although green on others.\r\n\r\n11 unrelated individuals and a pair of monozygotic twins were reported all with missense variants at proline 65 in the context of Turnpenny-Fry Syndrome. 5 individuals had aortic dilatation.",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-06-25T14:55:50.246683+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 27632686, 17502576; Phenotypes: Heritable Thoracic Aortic Aneurysm and Dissection; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2020-06-25T14:31:11.149791+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: SMAD4: Changed publications: 30071989, 25931195, 25931195",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-06-25T14:30:26.794688+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: \"Limited evidence\" for association with aortic dilatation/dissection by ClinGen:\r\n\r\n\"Eight genes scored as moderate (EFEMP2) or limited (ELN, FBN2, FLNA, NOTCH1,\r\nSLC2A10, SMAD4, and SKI) for association with HTAAD. These genes are a heterogeneous group for which the evidence was often difficult to assess...the evidence, therefore, for their association with a presentation of aortic dilatation and/or dissection is often rather lacking. The other common feature of these conditions is that there is no robust evidence of progression to aortic dissection.\"\r\n\r\nThe ClinGen review of SMAD4, viewable in the supplementary material, dates to 22/12/2016 and does not account for the reported individuals cited below.; to: \"Limited evidence\" for association with aortic dilatation/dissection by ClinGen:\r\n\r\n\"Eight genes scored as moderate (EFEMP2) or limited (ELN, FBN2, FLNA, NOTCH1,\r\nSLC2A10, SMAD4, and SKI) for association with HTAAD. These genes are a heterogeneous group for which the evidence was often difficult to assess...the evidence, therefore, for their association with a presentation of aortic dilatation and/or dissection is often rather lacking. The other common feature of these conditions is that there is no robust evidence of progression to aortic dissection.\"\r\n\r\nThe ClinGen review of SMAD4, viewable in the supplementary material, dates to 22/12/2016 and so does not account for the reported individuals in PMID 30809044.\r\n\r\nGreen in PanelApp UK although with quite a few Amber reviews. \r\n\r\nThere is an association between people with with SMAD4 variants and aortic dissection (PMID 25931195).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-06-25T14:22:05.606341+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: \"Definitive\" by ClinGen.\r\n\r\nReviewed in PMID 27879313 (176 cases with variants in TGFBR1).; to: \"Definitive\" by ClinGen Aortopathy working group.\r\n\r\nReviewed in PMID 27879313 (176 cases with variants in TGFBR1).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-06-25T14:21:37.260738+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: \"Definitive\" by ClinGen. \r\n\r\nClinGen cite PMID 22772371 which describes 4 families with variants in this gene.; to: \"Definitive\" by ClinGen Aortopathy Working Group.\r\n\r\nThe ClinGen Working Group cite PMID 22772371 which describes 4 families with variants in this gene.",
"entity_name": "TGFB2",
"entity_type": "gene"
}
]
}