{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1752","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1750","results":[{"created":"2020-07-01T17:51:45.268406+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LMNA as Amber List (moderate evidence)","entity_name":"LMNA","entity_type":"gene"},{"created":"2020-07-01T17:51:45.256243+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmna has been classified as Amber List (Moderate Evidence).","entity_name":"LMNA","entity_type":"gene"},{"created":"2020-07-01T17:49:29.306111+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRYAB as ready","entity_name":"CRYAB","entity_type":"gene"},{"created":"2020-07-01T17:49:29.283537+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cryab has been classified as Amber List (Moderate Evidence).","entity_name":"CRYAB","entity_type":"gene"},{"created":"2020-07-01T17:49:27.261343+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar, 2 608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related 613869 to Myopathy, myofibrillar, 2, MIM# 608810","entity_name":"CRYAB","entity_type":"gene"},{"created":"2020-07-01T17:49:13.508863+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CRYAB was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CRYAB","entity_type":"gene"},{"created":"2020-07-01T17:48:54.293855+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CRYAB as Amber List (moderate evidence)","entity_name":"CRYAB","entity_type":"gene"},{"created":"2020-07-01T17:48:54.277573+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cryab has been classified as Amber List (Moderate Evidence).","entity_name":"CRYAB","entity_type":"gene"},{"created":"2020-07-01T17:48:45.145514+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, myofibrillar, 2, MIM# 608810; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CRYAB","entity_type":"gene"},{"created":"2020-07-01T17:45:51.689185+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DES as ready","entity_name":"DES","entity_type":"gene"},{"created":"2020-07-01T17:45:51.685026+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Variable presentation, some overlap with LGMD.","entity_name":"DES","entity_type":"gene"},{"created":"2020-07-01T17:45:51.651504+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: des has been classified as Amber List (Moderate Evidence).","entity_name":"DES","entity_type":"gene"},{"created":"2020-07-01T17:45:38.096919+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DES as Amber List (moderate evidence)","entity_name":"DES","entity_type":"gene"},{"created":"2020-07-01T17:45:38.081091+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: des has been classified as Amber List (Moderate Evidence).","entity_name":"DES","entity_type":"gene"},{"created":"2020-07-01T17:44:20.788149+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LPIN1 as ready","entity_name":"LPIN1","entity_type":"gene"},{"created":"2020-07-01T17:44:20.775440+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lpin1 has been classified as Green List (High Evidence).","entity_name":"LPIN1","entity_type":"gene"},{"created":"2020-07-01T17:44:16.907088+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LPIN1 were set to ","entity_name":"LPIN1","entity_type":"gene"},{"created":"2020-07-01T17:43:59.636376+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28649549, 18817903, 32410653; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LPIN1","entity_type":"gene"},{"created":"2020-07-01T17:42:32.862009+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH7 as ready","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-07-01T17:42:32.849112+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh7 has been classified as Amber List (Moderate Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-07-01T17:42:29.070119+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYH7 as Amber List (moderate evidence)","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-07-01T17:42:29.060344+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh7 has been classified as Amber List (Moderate Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-07-01T17:38:03.121432+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.133","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: COL1A2 as ready","entity_name":"COL1A2","entity_type":"gene"},{"created":"2020-07-01T17:38:03.110798+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.133","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: col1a2 has been classified as Green List (High Evidence).","entity_name":"COL1A2","entity_type":"gene"},{"created":"2020-07-01T17:37:22.453317+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.133","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: COL1A2 as Green List (high evidence)","entity_name":"COL1A2","entity_type":"gene"},{"created":"2020-07-01T17:37:22.440776+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.133","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: col1a2 has been classified as Green List (High Evidence).","entity_name":"COL1A2","entity_type":"gene"},{"created":"2020-07-01T17:36:48.066919+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL1A2 was added\ngene: COL1A2 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list\nMode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COL1A2 were set to 28306229; 32091183; 2993307; 30821104\nPhenotypes for gene: COL1A2 were set to Ehlers-Danlos syndrome, arthrochalasia type, 2 MIM#617821; Ehlers-Danlos syndrome, cardiac valvular type MIM#225320\nReview for gene: COL1A2 was set to GREEN\ngene: COL1A2 was marked as current diagnostic\nAdded comment: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229). Monoallelic variants leading to (partial) loss of exon 6 are a well-established cause arthrochalasia type EDS. \r\nBiallelic variant that lead to loss-of-function/absence of pro a2(I) collagen chains cause cardiac-valvular type EDS. 6 cases in 5 unrelated families have been reported with homozygous and compound heterozygous variants (PMID: 30821104). \nSources: Expert list","entity_name":"COL1A2","entity_type":"gene"},{"created":"2020-07-01T17:32:20.957341+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYOT as ready","entity_name":"MYOT","entity_type":"gene"},{"created":"2020-07-01T17:32:20.953117+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Some of the reported variants have high population frequency.","entity_name":"MYOT","entity_type":"gene"},{"created":"2020-07-01T17:32:20.921264+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myot has been classified as Amber List (Moderate Evidence).","entity_name":"MYOT","entity_type":"gene"},{"created":"2020-07-01T17:31:56.527411+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYOT as Amber List (moderate evidence)","entity_name":"MYOT","entity_type":"gene"},{"created":"2020-07-01T17:31:56.516101+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myot has been classified as Amber List (Moderate Evidence).","entity_name":"MYOT","entity_type":"gene"},{"created":"2020-07-01T17:31:08.321312+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ORAI1 as ready","entity_name":"ORAI1","entity_type":"gene"},{"created":"2020-07-01T17:31:08.306150+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: orai1 has been classified as Amber List (Moderate Evidence).","entity_name":"ORAI1","entity_type":"gene"},{"created":"2020-07-01T17:31:03.951208+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ORAI1 as Amber List (moderate evidence)","entity_name":"ORAI1","entity_type":"gene"},{"created":"2020-07-01T17:31:03.939068+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: orai1 has been classified as Amber List (Moderate Evidence).","entity_name":"ORAI1","entity_type":"gene"},{"created":"2020-07-01T17:30:54.977842+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ORAI1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, tubular aggregate, 2 (MIM#615883); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ORAI1","entity_type":"gene"},{"created":"2020-07-01T17:27:30.674322+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCM3AP as ready","entity_name":"MCM3AP","entity_type":"gene"},{"created":"2020-07-01T17:27:30.657481+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm3ap has been classified as Green List (High Evidence).","entity_name":"MCM3AP","entity_type":"gene"},{"created":"2020-07-01T17:27:27.802329+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MCM3AP were set to ","entity_name":"MCM3AP","entity_type":"gene"},{"created":"2020-07-01T17:27:14.317891+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MCM3AP: Added comment: PMID: 32202298 - Woldegebriel et al 2020 - report a further two families, one in the Netherlands and one in Estonia, with probands with compound heterozygous variants in MCM3AP and a peripheral neuropathy with or without impaired intellectual development (MIM 618124) phenotype. The child from the Netherlands presented with severe hypotonia and intellectual disability. The two siblings from the Estonian family had severe generalized epilepsy and mild spastic diplegia. Functional studies using skin fibroblasts from these and other affected patients showed that disease variants result in depletion of GANP (encoded by MCM3AP) except when they alter critical residues in the Sac3 mRNA binding domain. GANP depletion was associated with more severe phenotypes compared with the Sac3 variants.; Changed publications: 24123876, 28633435, 28969388, 29982295, 32202298","entity_name":"MCM3AP","entity_type":"gene"},{"created":"2020-07-01T17:26:31.790512+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2724","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MCM3AP: Added comment: PMID: 32202298 - Woldegebriel et al 2020 - report a further two families, one in the Netherlands and one in Estonia, with probands with compound heterozygous variants in MCM3AP and a peripheral neuropathy with or without impaired intellectual development (MIM 618124) phenotype. The child from the Netherlands presented with severe hypotonia and intellectual disability. The two siblings from the Estonian family had severe generalized epilepsy and mild spastic diplegia. Functional studies using skin fibroblasts from these and other affected patients showed that disease variants result in depletion of GANP (encoded by MCM3AP) except when they alter critical residues in the Sac3 mRNA binding domain. GANP depletion was associated with more severe phenotypes compared with the Sac3 variants.; Changed publications: 32202298","entity_name":"MCM3AP","entity_type":"gene"},{"created":"2020-07-01T17:25:08.024767+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2724","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295","entity_name":"MCM3AP","entity_type":"gene"},{"created":"2020-07-01T17:24:30.729126+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2723","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MCM3AP: Changed publications: 24123876, 28633435, 28969388, 29982295, 32202298","entity_name":"MCM3AP","entity_type":"gene"},{"created":"2020-07-01T17:21:53.899824+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3187","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295","entity_name":"MCM3AP","entity_type":"gene"},{"created":"2020-07-01T17:20:52.907352+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3186","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SP6 as ready","entity_name":"SP6","entity_type":"gene"},{"created":"2020-07-01T17:20:52.894561+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sp6 has been classified as Amber List (Moderate Evidence).","entity_name":"SP6","entity_type":"gene"},{"created":"2020-07-01T17:20:14.385694+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3186","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SP6 as Amber List (moderate evidence)","entity_name":"SP6","entity_type":"gene"},{"created":"2020-07-01T17:20:14.370903+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sp6 has been classified as Amber List (Moderate Evidence).","entity_name":"SP6","entity_type":"gene"},{"created":"2020-07-01T17:19:18.215991+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX5 as ready","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-07-01T17:19:18.203685+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx5 has been classified as Green List (High Evidence).","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-07-01T17:18:51.838109+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBX5 were changed from  to Holt-Oram syndrome, MIM# 142900","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-07-01T17:18:07.796756+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBX5 were set to ","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-07-01T17:17:38.148083+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-07-01T17:17:09.001384+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TBX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10077612, 31373354; Phenotypes: Holt-Oram syndrome, MIM# 142900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-07-01T17:15:09.271585+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3185","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBX5: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-07-01T17:14:54.943247+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3185","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TBX5: Rating: ; Mode of pathogenicity: None; Publications: 10077612; Phenotypes: Holt-Oram syndrome, MIM# 142900; Mode of inheritance: None","entity_name":"TBX5","entity_type":"gene"},{"created":"2020-07-01T17:01:43.483339+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFEMP2 as ready","entity_name":"EFEMP2","entity_type":"gene"},{"created":"2020-07-01T17:01:43.473392+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efemp2 has been classified as Green List (High Evidence).","entity_name":"EFEMP2","entity_type":"gene"},{"created":"2020-07-01T17:01:40.784830+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFEMP2 were changed from  to Cutis laxa, autosomal recessive, type IB MIM# 614437","entity_name":"EFEMP2","entity_type":"gene"},{"created":"2020-07-01T17:01:10.801681+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.130","user_name":"Ain Roesley","item_type":"entity","text":"gene: FOXE3 was added\ngene: FOXE3 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: FOXE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXE3 were set to 30071989; 26854927\nReview for gene: FOXE3 was set to AMBER\nAdded comment: PMID: 30071989; classification from “moderate” to “limited” after expert review, because the data provided are limited to single supporting publications with few HTAAD families. \r\n\r\nGene validity curation by ClinGen in 2016 was \"moderate\", citing segregation in the large family and animal models  (https://search.clinicalgenome.org/kb/gene-validity/8261, PMID: 26854927) \nSources: Literature","entity_name":"FOXE3","entity_type":"gene"},{"created":"2020-07-01T17:01:08.965334+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EFEMP2 as Green List (high evidence)","entity_name":"EFEMP2","entity_type":"gene"},{"created":"2020-07-01T17:01:08.955789+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efemp2 has been classified as Green List (High Evidence).","entity_name":"EFEMP2","entity_type":"gene"},{"created":"2020-07-01T17:00:21.078184+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.129","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: EFEMP2: Changed phenotypes: Cutis laxa, autosomal recessive, type IB MIM# 614437","entity_name":"EFEMP2","entity_type":"gene"},{"created":"2020-07-01T16:59:40.768047+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.129","user_name":"Paul De Fazio","item_type":"entity","text":"gene: EFEMP2 was added\ngene: EFEMP2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EFEMP2 were set to 20389311; 19664000; 16685658; 17937443; 22943132; 22440127\nReview for gene: EFEMP2 was set to GREEN\ngene: EFEMP2 was marked as current diagnostic\nAdded comment: Associated with cutis laxa in at least 6 unrelated individuals (PMID: 20389311; 19664000; 16685658; 17937443).\r\n\r\nPMID: 22943132 reports 22 homozygous or compound het infants with: cardiovascular features included aneurysmal dilatation, elongation, tortuosity and narrowing of the aorta, pulmonary artery and their branches. The phenotype included a variable combination of cutis laxa (52%), long philtrum-thin vermillion (90%), micrognathia (43%), hypertelorism (57%), prominent eyes (43%), sagging cheeks (43%), long slender digits (48%), and visible arterial pulsations (38%).\r\n\r\nHas also been associated with aortic dissection without presentation of cutis laxa (PMID: 22440127 - reports 9 affected individuals). \nSources: Literature","entity_name":"EFEMP2","entity_type":"gene"},{"created":"2020-07-01T16:46:54.396903+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBLN5 as ready","entity_name":"FBLN5","entity_type":"gene"},{"created":"2020-07-01T16:46:54.374175+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbln5 has been classified as Green List (High Evidence).","entity_name":"FBLN5","entity_type":"gene"},{"created":"2020-07-01T16:46:49.315230+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBLN5 as Green List (high evidence)","entity_name":"FBLN5","entity_type":"gene"},{"created":"2020-07-01T16:46:49.305860+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbln5 has been classified as Green List (High Evidence).","entity_name":"FBLN5","entity_type":"gene"},{"created":"2020-07-01T16:46:19.012221+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBLN5 was added\ngene: FBLN5 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list\nMode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBLN5 were set to 3232707; 22829427; 11805835\nPhenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA, MIM#\t219100\nReview for gene: FBLN5 was set to GREEN\nAdded comment: >3 families reported and functional data including mouse model. \nSources: Expert list","entity_name":"FBLN5","entity_type":"gene"},{"created":"2020-07-01T16:44:30.402598+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.736","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: EXOC7 as Green List (high evidence)","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-07-01T16:44:30.394477+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.736","user_name":"Chirag Patel","item_type":"entity","text":"Gene: exoc7 has been classified as Green List (High Evidence).","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-07-01T16:44:00.803403+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.736","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: EXOC7 as Green List (high evidence)","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-07-01T16:44:00.774784+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.736","user_name":"Chirag Patel","item_type":"entity","text":"Gene: exoc7 has been classified as Green List (High Evidence).","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-07-01T16:43:44.254140+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.134","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: EXOC7 as Green List (high evidence)","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-07-01T16:43:44.214015+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.134","user_name":"Chirag Patel","item_type":"entity","text":"Gene: exoc7 has been classified as Green List (High Evidence).","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-07-01T16:43:29.283227+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.59","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28067911, 31243061; Phenotypes: Bosma arhinia microphthalmia syndrome (MIM#603457); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2020-07-01T16:42:51.511432+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.735","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: EXOC7 as Green List (high evidence)","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-07-01T16:42:51.488223+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.735","user_name":"Chirag Patel","item_type":"entity","text":"Gene: exoc7 has been classified as Green List (High Evidence).","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-07-01T16:42:40.982636+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.133","user_name":"Chirag Patel","item_type":"entity","text":"gene: EXOC7 was added\ngene: EXOC7 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOC7 were set to PMID: 32103185\nPhenotypes for gene: EXOC7 were set to brain atrophy; seizures; developmental delay; microcephaly\nReview for gene: EXOC7 was set to GREEN\nAdded comment: 4 families with 8 affected individuals with brain atrophy, seizures, and developmental delay, and in more severe cases microcephaly and infantile death. Four novel homozygous or comp.heterozygous variants found in EXOC7, which segregated with disease in the families. They showed that EXOC7, a member of the mammalian exocyst complex, is highly expressed in developing human cortex. In addition, a zebrafish model of Exoc7 deficiency recapitulates the human disorder with increased apoptosis and decreased progenitor cells during telencephalon development, suggesting that the brain atrophy in human cases reflects neuronal degeneration. \nSources: Literature","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-07-01T16:41:12.309277+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.734","user_name":"Chirag Patel","item_type":"entity","text":"gene: EXOC7 was added\ngene: EXOC7 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOC7 were set to PMID: 32103185\nPhenotypes for gene: EXOC7 were set to brain atrophy; seizures; developmental delay; microcephaly\nReview for gene: EXOC7 was set to GREEN\nAdded comment: 4 families with 8 affected individuals with brain atrophy, seizures, and developmental delay, and in more severe cases microcephaly and infantile death. Four novel homozygous or comp.heterozygous variants found in EXOC7, which segregated with disease in the families. They showed that EXOC7, a member of the mammalian exocyst complex, is highly expressed in developing human cortex. In addition, a zebrafish model of Exoc7 deficiency recapitulates the human disorder with increased apoptosis and decreased progenitor cells during telencephalon development, suggesting that the brain atrophy in human cases reflects neuronal degeneration. \nSources: Literature","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-07-01T16:40:42.093724+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.126","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DSE as ready","entity_name":"DSE","entity_type":"gene"},{"created":"2020-07-01T16:40:42.078406+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.126","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dse has been classified as Green List (High Evidence).","entity_name":"DSE","entity_type":"gene"},{"created":"2020-07-01T16:40:35.346481+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.126","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DSE as Green List (high evidence)","entity_name":"DSE","entity_type":"gene"},{"created":"2020-07-01T16:40:35.337646+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.126","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dse has been classified as Green List (High Evidence).","entity_name":"DSE","entity_type":"gene"},{"created":"2020-07-01T16:39:58.317618+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DSE was added\ngene: DSE was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list\nMode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DSE were set to 28306229; 23704329; 25703627; 32130795\nPhenotypes for gene: DSE were set to Ehlers-Danlos syndrome, musculocontractural type 2 MIM#615539\nReview for gene: DSE was set to GREEN\nAdded comment: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229).\r\n8 cases from 6 unrelated families have been reported with homozygous variants. \nSources: Expert list","entity_name":"DSE","entity_type":"gene"},{"created":"2020-07-01T16:38:49.090611+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFAP5 as ready","entity_name":"MFAP5","entity_type":"gene"},{"created":"2020-07-01T16:38:49.080038+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfap5 has been classified as Amber List (Moderate Evidence).","entity_name":"MFAP5","entity_type":"gene"},{"created":"2020-07-01T16:38:45.315684+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MFAP5 as Amber List (moderate evidence)","entity_name":"MFAP5","entity_type":"gene"},{"created":"2020-07-01T16:38:45.304276+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfap5 has been classified as Amber List (Moderate Evidence).","entity_name":"MFAP5","entity_type":"gene"},{"created":"2020-07-01T16:38:13.458478+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2723","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: EXOC7 as Green List (high evidence)","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-07-01T16:38:13.444538+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2723","user_name":"Chirag Patel","item_type":"entity","text":"Gene: exoc7 has been classified as Green List (High Evidence).","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-07-01T16:37:36.910340+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2722","user_name":"Chirag Patel","item_type":"entity","text":"gene: EXOC7 was added\ngene: EXOC7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOC7 were set to PMID: 32103185\nPhenotypes for gene: EXOC7 were set to brain atrophy; seizures; developmental delay; microcephaly\nReview for gene: EXOC7 was set to GREEN\nAdded comment: 4 families with 8 affected individuals with brain atrophy, seizures, and developmental delay, and in more severe cases microcephaly and infantile death. Four novel homozygous or comp.heterozygous variants found in EXOC7, which segregated with disease in the families. They showed that EXOC7, a member of the mammalian exocyst complex, is highly expressed in developing human cortex. In addition, a zebrafish model of Exoc7 deficiency recapitulates the human disorder with increased apoptosis and decreased progenitor cells during telencephalon development, suggesting that the brain atrophy in human cases reflects neuronal degeneration. \nSources: Literature","entity_name":"EXOC7","entity_type":"gene"},{"created":"2020-07-01T16:35:20.651529+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELN as ready","entity_name":"ELN","entity_type":"gene"},{"created":"2020-07-01T16:35:20.625753+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eln has been classified as Green List (High Evidence).","entity_name":"ELN","entity_type":"gene"},{"created":"2020-07-01T16:35:15.425682+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.123","user_name":"Paul De Fazio","item_type":"entity","text":"gene: MFAP5 was added\ngene: MFAP5 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: MFAP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MFAP5 were set to 25434006; 30763214\nPhenotypes for gene: MFAP5 were set to Aortic aneurysm, familial thoracic MIM# 616166\nReview for gene: MFAP5 was set to AMBER\ngene: MFAP5 was marked as current diagnostic\nAdded comment: 2 families described with thoracic aortic aneurysms and dissections, one with a nonsense variant and one with a missense (PMID:2544006). A recent review doesn't mention any other cases (PMID:30763214). \nSources: Literature","entity_name":"MFAP5","entity_type":"gene"},{"created":"2020-07-01T16:32:39.590029+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHST14 as ready","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-07-01T16:32:39.574976+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chst14 has been classified as Green List (High Evidence).","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-07-01T16:32:31.030083+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ELN as Green List (high evidence)","entity_name":"ELN","entity_type":"gene"},{"created":"2020-07-01T16:32:31.020798+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eln has been classified as Green List (High Evidence).","entity_name":"ELN","entity_type":"gene"}]}